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52 results on '"Maher B"'

1. Mapping the IMiD-dependent cereblon interactome using BioID-proximity labelling

Author: Costacurta, M, Sandow, JJ, Maher, B, Susanto, O, Vervoort, SJ, Devlin, JR, Garama, D, Condina, MR, Steele, JR, Kahrood, HV, Gough, D, Johnstone, RW, Shortt, J, Costacurta, M, Sandow, JJ, Maher, B, Susanto, O, Vervoort, SJ, Devlin, JR, Garama, D, Condina, MR, Steele, JR, Kahrood, HV, Gough, D, Johnstone, RW, and Shortt, J
Abstract: Immunomodulatory imide drugs (IMiDs) are central components of therapy for multiple myeloma (MM). IMiDs bind cereblon (CRBN), an adaptor for the CUL4-DDB1-RBX1 E3 ligase to change its substrate specificity and induce degradation of 'neosubstrate' transcription factors that are essential to MM cells. Mechanistic studies to date have largely focussed on mediators of therapeutic activity and insight into clinical IMiD toxicities is less developed. We adopted BioID2-dependent proximity labelling (BioID2-CRBN) to characterise the CRBN interactome in the presence and absence of various IMiDs and the proteasome inhibitor, bortezomib. We aimed to leverage this technology to further map CRBN interactions beyond what has been achieved by conventional proteomic techniques. In support of this approach, analysis of cells expressing BioID2-CRBN following IMiD treatment displayed biotinylation of known CRBN interactors and neosubstrates. We observed that bortezomib alone significantly modifies the CRBN interactome. Proximity labelling also suggested that IMiDs augment the interaction between CRBN and proteins that are not degraded, thus designating 'neointeractors' distinct from previously disclosed 'neosubstrates'. Here we identify Non-Muscle Myosin Heavy Chain IIA (MYH9) as a putative CRBN neointeractor that may contribute to the haematological toxicity of IMiDs. These studies provide proof of concept for proximity labelling technologies in the mechanistic profiling of IMiDs and related E3-ligase-modulating drugs.
Published: 2024

2. A Lake Record of Geomagnetic Secular Variations for the Last 23 ka From Lake Chala : Toward a Composite Directional Lake Record of the Earth's Magnetic Field for Equatorial East Africa

Author: Di Chiara, A., Hounslow, M. W., Maher, B. A., Karloukovski, V., Van Daele, M., Blaauw, M., Verschuren, D., Di Chiara, A., Hounslow, M. W., Maher, B. A., Karloukovski, V., Van Daele, M., Blaauw, M., and Verschuren, D.
Abstract: The documentation and understanding of variations in the Earth's magnetic field through time is fundamental for several disciplines, but current geomagnetic models rely on datasets heavily biased toward the mid‐ and high northern latitudes. The African continent and surrounding islands and oceans are particularly underrepresented. Here, we present a new record of paleo‐secular variation (PSV) of the inclinations over the last 23 ka from Lake Chala, situated at 3°S near Mt Kilimanjaro in eastern equatorial Africa. This groundwater‐fed crater lake is characterized by a high sedimentation rate (ca. 1 cm/10 years) and a particularly well‐constrained age model based on 210Pb and 14C dating. The magnetic mineralogy of the sediments is tested with rock magnetic analyses. The Lake Chala inclination record shows four highs and lows over 20 ka and compares well with that of Lake Malawi (10°S) between 20 and 16.2 ka, and from 9.8 to 2.6 ka. This record is linked to PSV records at Lakes Victoria and Malawi using a sequence slotting technique to generate a composite PSV model for east Africa. Analyzed at best‐possible resolutions up to 200 years, the Lake Chala PSV record not only represents an important contribution to improve our understanding of local and global features of the Earth's magnetic field. It also expands the utility of paleomagnetism as a key tool for dating and correlation both for archeological sites throughout East Africa and the many volcanoes, active or dormant, of the East African Rift System.
Published: 2024

3. Integrated clinical and genomic evaluation of guadecitabine (SGI-110) in peripheral T-cell lymphoma

Author: Wong, J, Gruber, E, Maher, B, Waltham, M, Sabouri-Thompson, Z, Jong, I, Luong, Q, Levy, S, Kumar, B, Brasacchio, D, Jia, W, So, J, Skinner, H, Lewis, A, Hogg, SJ, Vervoort, S, DiCorleto, C, Uhe, M, Gamgee, J, Opat, S, Gregory, GP, Polekhina, G, Reynolds, J, Hawkes, EA, Kailainathan, G, Gasiorowski, R, Kats, LM, Shortt, J, Wong, J, Gruber, E, Maher, B, Waltham, M, Sabouri-Thompson, Z, Jong, I, Luong, Q, Levy, S, Kumar, B, Brasacchio, D, Jia, W, So, J, Skinner, H, Lewis, A, Hogg, SJ, Vervoort, S, DiCorleto, C, Uhe, M, Gamgee, J, Opat, S, Gregory, GP, Polekhina, G, Reynolds, J, Hawkes, EA, Kailainathan, G, Gasiorowski, R, Kats, LM, and Shortt, J
Abstract: Peripheral T-cell lymphoma (PTCL) is a rare, heterogenous malignancy with dismal outcomes at relapse. Hypomethylating agents (HMA) have an emerging role in PTCL, supported by shared mutations with myelodysplasia (MDS). Response rates to azacitidine in PTCL of follicular helper cell origin are promising. Guadecitabine is a decitabine analogue with efficacy in MDS. In this phase II, single-arm trial, PTCL patients received guadecitabine on days 1-5 of 28-day cycles. Primary end points were overall response rate (ORR) and safety. Translational sub-studies included cell free plasma DNA sequencing and functional genomic screening using an epigenetically-targeted CRISPR/Cas9 library to identify response predictors. Among 20 predominantly relapsed/refractory patients, the ORR was 40% (10% complete responses). Most frequent grade 3-4 adverse events were neutropenia and thrombocytopenia. At 10 months median follow-up, median progression free survival (PFS) and overall survival (OS) were 2.9 and 10.4 months respectively. RHOAG17V mutations associated with improved PFS (median 5.47 vs. 1.35 months; Wilcoxon p = 0.02, Log-Rank p = 0.06). 4/7 patients with TP53 variants responded. Deletion of the histone methyltransferase SETD2 sensitised to HMA but TET2 deletion did not. Guadecitabine conveyed an acceptable ORR and toxicity profile; decitabine analogues may provide a backbone for future combinatorial regimens co-targeting histone methyltransferases.
Published: 2022

4. Genome-wide association study of pediatric obsessive-compulsive traits: shared genetic risk between traits and disorder

Author: Burton, CL, Lemire, M, Xiao, B, Corfield, EC, Erdman, L, Bralten, J, Poelmans, G, Yu, D, Shaheen, SM, Goodale, T, Sinopoli, VM, Askland, KD, Barlassina, C, Bienvenu, OJ, Black, D, Bloch, M, Brentani, H, Camarena, B, Cappi, C, Cath, D, Cavallini, MC, Ciullo, V, Conti, D, Cook, EH, Coric, V, Cullen, BA, Cusi, D, Davis, LK, Delorme, R, Denys, D, Derks, E, Eapen, V, Edlund, C, Falkai, P, Fyer, AJ, Geller, DA, Goes, FS, Grabe, HJ, Grados, MA, Greenberg, BD, Grünblatt, E, Guo, W, Hounie, AG, Jenike, M, Keenan, CL, Kennedy, JL, Khramtsova, EA, Knowles, JA, Krasnow, J, Lange, C, Lanzagorta, N, Leboyer, M, Liang, KY, Lochner, C, Macciardi, F, Maher, B, Mathews, CA, Mattheisen, M, McCracken, JT, McGregor, N, McLaughlin, NCR, Miguel, EC, Neale, B, Nestadt, G, Nestadt, PS, Nicolini, H, Nurmi, EL, Osiecki, L, Piacentini, J, Pittenger, C, Posthuma, D, Pulver, AE, Rasmussen, SA, Rauch, S, Richter, MA, Riddle, MA, Ripke, S, Ruhrmann, S, Sampaio, AS, Samuels, JF, Scharf, JM, Shugart, YY, Smit, JH, Stein, DJ, Stewart, SE, Turiel, M, Vallada, H, Veenstra-VanderWeele, J, Vulink, N, Wagner, M, Walitza, S, Wang, Y, Wendland, J, Zai, G, Soreni, N, Hanna, GL, Fitzgerald, KD, Rosenberg, D, Paterson, AD, Burton, CL, Lemire, M, Xiao, B, Corfield, EC, Erdman, L, Bralten, J, Poelmans, G, Yu, D, Shaheen, SM, Goodale, T, Sinopoli, VM, Askland, KD, Barlassina, C, Bienvenu, OJ, Black, D, Bloch, M, Brentani, H, Camarena, B, Cappi, C, Cath, D, Cavallini, MC, Ciullo, V, Conti, D, Cook, EH, Coric, V, Cullen, BA, Cusi, D, Davis, LK, Delorme, R, Denys, D, Derks, E, Eapen, V, Edlund, C, Falkai, P, Fyer, AJ, Geller, DA, Goes, FS, Grabe, HJ, Grados, MA, Greenberg, BD, Grünblatt, E, Guo, W, Hounie, AG, Jenike, M, Keenan, CL, Kennedy, JL, Khramtsova, EA, Knowles, JA, Krasnow, J, Lange, C, Lanzagorta, N, Leboyer, M, Liang, KY, Lochner, C, Macciardi, F, Maher, B, Mathews, CA, Mattheisen, M, McCracken, JT, McGregor, N, McLaughlin, NCR, Miguel, EC, Neale, B, Nestadt, G, Nestadt, PS, Nicolini, H, Nurmi, EL, Osiecki, L, Piacentini, J, Pittenger, C, Posthuma, D, Pulver, AE, Rasmussen, SA, Rauch, S, Richter, MA, Riddle, MA, Ripke, S, Ruhrmann, S, Sampaio, AS, Samuels, JF, Scharf, JM, Shugart, YY, Smit, JH, Stein, DJ, Stewart, SE, Turiel, M, Vallada, H, Veenstra-VanderWeele, J, Vulink, N, Wagner, M, Walitza, S, Wang, Y, Wendland, J, Zai, G, Soreni, N, Hanna, GL, Fitzgerald, KD, Rosenberg, D, and Paterson, AD
Abstract: Using a novel trait-based measure, we examined genetic variants associated with obsessive-compulsive (OC) traits and tested whether OC traits and obsessive-compulsive disorder (OCD) shared genetic risk. We conducted a genome-wide association analysis (GWAS) of OC traits using the Toronto Obsessive-Compulsive Scale (TOCS) in 5018 unrelated Caucasian children and adolescents from the community (Spit for Science sample). We tested the hypothesis that genetic variants associated with OC traits from the community would be associated with clinical OCD using a meta-analysis of all currently available OCD cases. Shared genetic risk was examined between OC traits and OCD in the respective samples using polygenic risk score and genetic correlation analyses. A locus tagged by rs7856850 in an intron of PTPRD (protein tyrosine phosphatase δ) was significantly associated with OC traits at the genome-wide significance level (p = 2.48 × 10−8). rs7856850 was also associated with OCD in a meta-analysis of OCD case/control genome-wide datasets (p = 0.0069). The direction of effect was the same as in the community sample. Polygenic risk scores from OC traits were significantly associated with OCD in case/control datasets and vice versa (p’s < 0.01). OC traits were highly, but not significantly, genetically correlated with OCD (rg = 0.71, p = 0.062). We report the first validated genome-wide significant variant for OC traits in PTPRD, downstream of the most significant locus in a previous OCD GWAS. OC traits measured in the community sample shared genetic risk with OCD case/control status. Our results demonstrate the feasibility and power of using trait-based approaches in community samples for genetic discovery.
Published: 2021

5. Characteristics and outcomes of rapid response team activations for hypotension in orthopaedic patients

Author: Ramos, JGR, Zhang, R, Maher, B, Hardidge, A, Weinberg, L, Robbins, R, Peyton, PJ, Bellomo, R, Jones, D, Ramos, JGR, Zhang, R, Maher, B, Hardidge, A, Weinberg, L, Robbins, R, Peyton, PJ, Bellomo, R, and Jones, D
Abstract: BACKGROUND: Hypotension following orthopaedic surgery has been associated with increased morbidity and mortality. Rapid response teams (RRT) review patients on hospital wards with hypotension. AIM: To evaluate the epidemiology of hypotensive RRT activations in adult orthopaedic patients to identify contributing factors and areas for future quality improvement. METHODS: Timing of RRT activations, presumed causes of hypotension and associated treatments were assessed. RESULTS: Among 963 RRT activations in 605 patients over 3 years, the first calls of 226 of 605 patients were due to hypotension, and 213 (94.2%) of 226 had sufficient data for analysis. The median age was 79 (interquartile range 66-87) years; 58 (27.2%) were male, and comorbidities were common. Most (68%) surgery was emergent, and 75.1% received intraoperative vasopressors for hypotension. Most activations occurred within 24 h of surgery, and hypovolaemia, infection and arrhythmias were common presumed causes. Fluid boluses occurred in 173 (81.2%), and the time between surgery and RRT activation was 10 (4.0-26.5) h. in cases where fluid boluses were given, compared with 33 (15.5-61.5) h. where they were not (P < 0.001). Blood transfusion (30, 14.1%) and withholding of medications were also common. Hospital mortality was 8.5% (18), and 13.6% (29) were admitted to critical care at some stage. In-hospital death was associated with older age, functional dependence, arrhythmia and presumed infection. CONCLUSIONS: Hypotension-related RRT calls in orthopaedic patients are common. Future interventional studies might focus on perioperative fluid therapy and vaso-active medications, as well as withholding of anti-hypertensive medications preoperatively.
Published: 2020

6. Exploring the potential of advanced instrumentation in physical hydraulic modelling for spillway design

Author: Modra, B, Felder, S, Montano, L, Mathieu, D, Martin, C, Wiltshire, C, Raymond, M, Maher, B, Modra, B, Felder, S, Montano, L, Mathieu, D, Martin, C, Wiltshire, C, Raymond, M, and Maher, B
Abstract: Physical modelling of dam structures remains a preferred method for validating and improving dam designs. Flow behaviour in the approach and over the crest of a dam can be accurately studied with traditional methods such as pressure transducers, piezometers and current meters due to the relatively smooth and steady flow conditions. However, characterising flows within a stilling basin is far more difficult due to the complex, aerated and highly turbulent flow conditions. Recent work on detailed measurement of hydraulic jumps using a line-scanning Lidar was adapted for measurement of stilling basin surface profiles in a 1:50 scale model of Somerset Dam, QLD. Lidar was shown to be an effective and efficient tool for providing assessment of the toe jump, boil and flow into the downstream channel.
Published: 2018

7. Analysis of shared heritability in common disorders of the brain

Author: Anttila, V, Bulik-Sullivan, B, Finucane, H, Walters, R, Bras, J, Duncan, L, Escott-Price, V, Falcone, G, Gormley, P, Malik, R, Patsopoulos, N, Ripke, S, Wei, Z, Yu, D, Lee, P, Turley, P, Grenier-Boley, B, Chouraki, V, Kamatani, Y, Berr, C, Letenneur, L, Hannequin, D, Amouyel, P, Boland, A, Deleuze, J, Duron, E, Vardarajan, B, Reitz, C, Goate, A, Huentelman, M, Ilyas Kamboh, M, Larson, E, Rogaeva, E, George-Hyslop, P, Hakonarson, H, Kukull, W, Farrer, L, Barnes, L, Beach, T, Yesim Demirci, F, Head, E, Hulette, C, Jicha, G, Kauwe, J, Kaye, J, Leverenz, J, Levey, A, Lieberman, A, Pankratz, V, Poon, W, Quinn, J, Saykin, A, Schneider, L, Smith, A, Sonnen, J, Stern, R, Van Deerlin, V, Van Eldik, L, Harold, D, Russo, G, Rubinsztein, D, Bayer, A, Tsolaki, M, Proitsi, P, Fox, N, Hampel, H, Owen, M, Mead, S, Passmore, P, Morgan, K, Nöthen, M, Rossor, M, Lupton, M, Hoffmann, P, Kornhuber, J, Lawlor, B, Mcquillin, A, Al-Chalabi, A, Bis, J, Ruiz, A, Boada, M, Seshadri, S, Beiser, A, Rice, K, Van Der Lee, S, De Jager, P, Geschwind, D, Riemenschneider, M, Riedel-Heller, S, Rotter, J, Ransmayr, G, Hyman, B, Cruchaga, C, Alegret, M, Winsvold, B, Palta, P, Farh, K, Cuenca-Leon, E, Furlotte, N, Kurth, T, Ligthart, L, Terwindt, G, Freilinger, T, Ran, C, Gordon, S, Borck, G, Adams, H, Lehtimäki, T, Wedenoja, J, Buring, J, Schürks, M, Hrafnsdottir, M, Hottenga, J, Penninx, B, Artto, V, Kaunisto, M, Vepsäläinen, S, Martin, N, Montgomery, G, Kurki, M, Hämäläinen, E, Huang, H, Huang, J, Sandor, C, Webber, C, Muller-Myhsok, B, Schreiber, S, Salomaa, V, Loehrer, E, Göbel, H, Macaya, A, Pozo-Rosich, P, Hansen, T, Werge, T, Kaprio, J, Metspalu, A, Kubisch, C, Ferrari, M, Belin, A, Van Den Maagdenberg, A, Zwart, J, Boomsma, D, Eriksson, N, Olesen, J, Chasman, D, Nyholt, D, Avbersek, A, Baum, L, Berkovic, S, Bradfield, J, Buono, R, Catarino, C, Cossette, P, De Jonghe, P, Depondt, C, Dlugos, D, Ferraro, T, French, J, Hjalgrim, H, Jamnadas-Khoda, J, Kälviäinen, R, Kunz, W, Lerche, H, Leu, C, Lindhout, D, Lo, W, Lowenstein, D, Mccormack, M, Møller, R, Molloy, A, Ng, P, Oliver, K, Privitera, M, Radtke, R, Ruppert, A, Sander, T, Schachter, S, Schankin, C, Scheffer, I, Schoch, S, Sisodiya, S, Smith, P, Sperling, M, Striano, P, Surges, R, Neil Thomas, G, Visscher, F, Whelan, C, Zara, F, Heinzen, E, Marson, A, Becker, F, Stroink, H, Zimprich, F, Gasser, T, Gibbs, R, Heutink, P, Martinez, M, Morris, H, Sharma, M, Ryten, M, Mok, K, Pulit, S, Bevan, S, Holliday, E, Attia, J, Battey, T, Boncoraglio, G, Thijs, V, Chen, W, Mitchell, B, Rothwell, P, Sharma, P, Sudlow, C, Vicente, A, Markus, H, Kourkoulis, C, Pera, J, Raffeld, M, Silliman, S, Perica, V, Thornton, L, Huckins, L, William Rayner, N, Lewis, C, Gratacos, M, Rybakowski, F, Keski-Rahkonen, A, Raevuori, A, Hudson, J, Reichborn-Kjennerud, T, Monteleone, P, Karwautz, A, Mannik, K, Baker, J, O'Toole, J, Trace, S, Davis, O, Helder, S, Ehrlich, S, Herpertz-Dahlmann, B, Danner, U, Van Elburg, A, Clementi, M, Forzan, M, Docampo, E, Lissowska, J, Hauser, J, Tortorella, A, Maj, M, Gonidakis, F, Tziouvas, K, Papezova, H, Yilmaz, Z, Wagner, G, Cohen-Woods, S, Herms, S, Julia, A, Rabionet, R, Dick, D, Ripatti, S, Andreassen, O, Espeseth, T, Lundervold, A, Steen, V, Pinto, D, Scherer, S, Aschauer, H, Schosser, A, Alfredsson, L, Padyukov, L, Halmi, K, Mitchell, J, Strober, M, Bergen, A, Kaye, W, Szatkiewicz, J, Cormand, B, Ramos-Quiroga, J, Sánchez-Mora, C, Ribasés, M, Casas, M, Hervas, A, Arranz, M, Haavik, J, Zayats, T, Johansson, S, Williams, N, Dempfle, A, Rothenberger, A, Kuntsi, J, Oades, R, Banaschewski, T, Franke, B, Buitelaar, J, Vasquez, A, Doyle, A, Reif, A, Lesch, K, Freitag, C, Rivero, O, Palmason, H, Romanos, M, Langley, K, Rietschel, M, Witt, S, Dalsgaard, S, Børglum, A, Waldman, I, Wilmot, B, Molly, N, Bau, C, Crosbie, J, Schachar, R, Loo, S, Mcgough, J, Grevet, E, Medland, S, Robinson, E, Weiss, L, Bacchelli, E, Bailey, A, Bal, V, Battaglia, A, Betancur, C, Bolton, P, Cantor, R, Celestino-Soper, P, Dawson, G, De Rubeis, S, Duque, F, Green, A, Klauck, S, Leboyer, M, Levitt, P, Maestrini, E, Mane, S, Moreno-De-Luca, D, Parr, J, Regan, R, Reichenberg, A, Sandin, S, Vorstman, J, Wassink, T, Wijsman, E, Cook, E, Santangelo, S, Delorme, R, Roge, B, Magalhaes, T, Arking, D, Schulze, T, Thompson, R, Strohmaier, J, Matthews, K, Melle, I, Morris, D, Blackwood, D, Mcintosh, A, Bergen, S, Schalling, M, Jamain, S, Maaser, A, Fischer, S, Reinbold, C, Fullerton, J, Guzman-Parra, J, Mayoral, F, Schofield, P, Cichon, S, Mühleisen, T, Degenhardt, F, Schumacher, J, Bauer, M, Mitchell, P, Gershon, E, Rice, J, Potash, J, Zandi, P, Craddock, N, Nicol Ferrier, I, Alda, M, Rouleau, G, Turecki, G, Ophoff, R, Pato, C, Anjorin, A, Stahl, E, Leber, M, Czerski, P, Cruceanu, C, Jones, I, Posthuma, D, Andlauer, T, Forstner, A, Streit, F, Baune, B, Air, T, Sinnamon, G, Wray, N, Macintyre, D, Porteous, D, Homuth, G, Rivera, M, Grove, J, Middeldorp, C, Hickie, I, Pergadia, M, Mehta, D, Smit, J, Jansen, R, De Geus, E, Dunn, E, Li, Q, Nauck, M, Schoevers, R, Beekman, A, Knowles, J, Viktorin, A, Arnold, P, Barr, C, Bedoya-Berrio, G, Joseph Bienvenu, O, Brentani, H, Burton, C, Camarena, B, Cappi, C, Cath, D, Cavallini, M, Cusi, D, Darrow, S, Denys, D, Derks, E, Dietrich, A, Fernandez, T, Figee, M, Freimer, N, Gerber, G, Grados, M, Greenberg, E, Hanna, G, Hartmann, A, Hirschtritt, M, Hoekstra, P, Huang, A, Huyser, C, Illmann, C, Jenike, M, Kuperman, S, Leventhal, B, Lochner, C, Lyon, G, Macciardi, F, Madruga-Garrido, M, Malaty, I, Maras, A, Mcgrath, L, Miguel, E, Mir, P, Nestadt, G, Nicolini, H, Okun, M, Pakstis, A, Paschou, P, Piacentini, J, Pittenger, C, Plessen, K, Ramensky, V, Ramos, E, Reus, V, Richter, M, Riddle, M, Robertson, M, Roessner, V, Rosário, M, Samuels, J, Sandor, P, Stein, D, Tsetsos, F, Van Nieuwerburgh, F, Weatherall, S, Wendland, J, Wolanczyk, T, Worbe, Y, Zai, G, Goes, F, Mclaughlin, N, Nestadt, P, Grabe, H, Depienne, C, Konkashbaev, A, Lanzagorta, N, Valencia-Duarte, A, Bramon, E, Buccola, N, Cahn, W, Cairns, M, Chong, S, Cohen, D, Crespo-Facorro, B, Crowley, J, Davidson, M, Delisi, L, Dinan, T, Donohoe, G, Drapeau, E, Duan, J, Haan, L, Hougaard, D, Karachanak-Yankova, S, Khrunin, A, Klovins, J, Kučinskas, V, Keong, J, Limborska, S, Loughland, C, Lönnqvist, J, Maher, B, Mattheisen, M, Mcdonald, C, Murphy, K, Nenadic, I, Van Os, J, Pantelis, C, Pato, M, Petryshen, T, Quested, D, Roussos, P, Sanders, A, Schall, U, Schwab, S, Sim, K, So, H, Stögmann, E, Subramaniam, M, Toncheva, D, Waddington, J, Walters, J, Weiser, M, Cheng, W, Cloninger, R, Curtis, D, Gejman, P, Henskens, F, Mattingsdal, M, Oh, S, Scott, R, Webb, B, Breen, G, Churchhouse, C, Bulik, C, Daly, M, Dichgans, M, Faraone, S, Guerreiro, R, Holmans, P, Kendler, K, Koeleman, B, Mathews, C, Price, A, Scharf, J, Sklar, P, Williams, J, Wood, N, Cotsapas, C, Palotie, A, Smoller, J, Sullivan, P, Rosand, J, Corvin, A, Neale, B, Anttila, Verneri, Bulik-Sullivan, Brendan, Finucane, Hilary K., Walters, Raymond K., Bras, Jose, Duncan, Laramie, Escott-Price, Valentina, Falcone, Guido J., Gormley, Padhraig, Malik, Rainer, Patsopoulos, Nikolaos A., Ripke, Stephan, Wei, Zhi, Yu, Dongmei, Lee, Phil H., Turley, Patrick, Grenier-Boley, Benjamin, Chouraki, Vincent, Kamatani, Yoichiro, Berr, Claudine, Letenneur, Luc, Hannequin, Didier, Amouyel, Philippe, Boland, Anne, Deleuze, Jean-François, Duron, Emmanuelle, Vardarajan, Badri N., Reitz, Christiane, Goate, Alison M., Huentelman, Matthew J., Ilyas Kamboh, M., Larson, Eric B., Rogaeva, Ekaterina, George-Hyslop, Peter St, Hakonarson, Hakon, Kukull, Walter A., Farrer, Lindsay A., Barnes, Lisa L., Beach, Thomas G., Yesim Demirci, F., Head, Elizabeth, Hulette, Christine M., Jicha, Gregory A., Kauwe, John S. K., Kaye, Jeffrey A., Leverenz, James B., Levey, Allan I., Lieberman, Andrew P., Pankratz, Vernon S., Poon, Wayne W., Quinn, Joseph F., Saykin, Andrew J., Schneider, Lon S., Smith, Amanda G., Sonnen, Joshua A., Stern, Robert A., Van Deerlin, Vivianna M., Van Eldik, Linda J., Harold, Denise, Russo, Giancarlo, Rubinsztein, David C., Bayer, Anthony, Tsolaki, Magda, Proitsi, Petra, Fox, Nick C., Hampel, Harald, Owen, Michael J., Mead, Simon, Passmore, Peter, Morgan, Kevin, Nöthen, Markus M., Rossor, Martin, Lupton, Michelle K., Hoffmann, Per, Kornhuber, Johannes, Lawlor, Brian, McQuillin, Andrew, Al-Chalabi, Ammar, Bis, Joshua C., Ruiz, Agustin, Boada, Mercè, Seshadri, Sudha, Beiser, Alexa, Rice, Kenneth, Van Der Lee, Sven J., De Jager, Philip L., Geschwind, Daniel H., Riemenschneider, Matthias, Riedel-Heller, Steffi, Rotter, Jerome I., Ransmayr, Gerhard, Hyman, Bradley T., Cruchaga, Carlos, Alegret, Montserrat, Winsvold, Bendik, Palta, Priit, Farh, Kai-How, Cuenca-Leon, Ester, Furlotte, Nicholas, Kurth, Tobias, Ligthart, Lannie, Terwindt, Gisela M., Freilinger, Tobias, Ran, Caroline, Gordon, Scott D., Borck, Guntram, Adams, Hieab H. H., Lehtimäki, Terho, Wedenoja, Juho, Buring, Julie E., Schürks, Markus, Hrafnsdottir, Maria, Hottenga, Jouke-Jan, Penninx, Brenda, Artto, Ville, Kaunisto, Mari, Vepsäläinen, Salli, Martin, Nicholas G., Montgomery, Grant W., Kurki, Mitja I., Hämäläinen, Eija, Huang, Hailiang, Huang, Jie, Sandor, Cynthia, Webber, Caleb, Muller-Myhsok, Bertram, Schreiber, Stefan, Salomaa, Veikko, Loehrer, Elizabeth, Göbel, Hartmut, Macaya, Alfons, Pozo-Rosich, Patricia, Hansen, Thomas, Werge, Thomas, Kaprio, Jaakko, Metspalu, Andres, Kubisch, Christian, Ferrari, Michel D., Belin, Andrea C., Van Den Maagdenberg, Arn M. J. 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Lupton, M, Hoffmann, P, Kornhuber, J, Lawlor, B, Mcquillin, A, Al-Chalabi, A, Bis, J, Ruiz, A, Boada, M, Seshadri, S, Beiser, A, Rice, K, Van Der Lee, S, De Jager, P, Geschwind, D, Riemenschneider, M, Riedel-Heller, S, Rotter, J, Ransmayr, G, Hyman, B, Cruchaga, C, Alegret, M, Winsvold, B, Palta, P, Farh, K, Cuenca-Leon, E, Furlotte, N, Kurth, T, Ligthart, L, Terwindt, G, Freilinger, T, Ran, C, Gordon, S, Borck, G, Adams, H, Lehtimäki, T, Wedenoja, J, Buring, J, Schürks, M, Hrafnsdottir, M, Hottenga, J, Penninx, B, Artto, V, Kaunisto, M, Vepsäläinen, S, Martin, N, Montgomery, G, Kurki, M, Hämäläinen, E, Huang, H, Huang, J, Sandor, C, Webber, C, Muller-Myhsok, B, Schreiber, S, Salomaa, V, Loehrer, E, Göbel, H, Macaya, A, Pozo-Rosich, P, Hansen, T, Werge, T, Kaprio, J, Metspalu, A, Kubisch, C, Ferrari, M, Belin, A, Van Den Maagdenberg, A, Zwart, J, Boomsma, D, Eriksson, N, Olesen, J, Chasman, D, Nyholt, D, Avbersek, A, Baum, L, Berkovic, S, Bradfield, J, Buono, R, Catarino, C, Cossette, P, De Jonghe, P, Depondt, C, Dlugos, D, Ferraro, T, French, J, Hjalgrim, H, Jamnadas-Khoda, J, Kälviäinen, R, Kunz, W, Lerche, H, Leu, C, Lindhout, D, Lo, W, Lowenstein, D, Mccormack, M, Møller, R, Molloy, A, Ng, P, Oliver, K, Privitera, M, Radtke, R, Ruppert, A, Sander, T, Schachter, S, Schankin, C, Scheffer, I, Schoch, S, Sisodiya, S, Smith, P, Sperling, M, Striano, P, Surges, R, Neil Thomas, G, Visscher, F, Whelan, C, Zara, F, Heinzen, E, Marson, A, Becker, F, Stroink, H, Zimprich, F, Gasser, T, Gibbs, R, Heutink, P, Martinez, M, Morris, H, Sharma, M, Ryten, M, Mok, K, Pulit, S, Bevan, S, Holliday, E, Attia, J, Battey, T, Boncoraglio, G, Thijs, V, Chen, W, Mitchell, B, Rothwell, P, Sharma, P, Sudlow, C, Vicente, A, Markus, H, Kourkoulis, C, Pera, J, Raffeld, M, Silliman, S, Perica, V, Thornton, L, Huckins, L, William Rayner, N, Lewis, C, Gratacos, M, Rybakowski, F, Keski-Rahkonen, A, Raevuori, A, Hudson, J, Reichborn-Kjennerud, T, Monteleone, P, Karwautz, A, Mannik, K, Baker, J, O'Toole, J, Trace, S, Davis, O, Helder, S, Ehrlich, S, Herpertz-Dahlmann, B, Danner, U, Van Elburg, A, Clementi, M, Forzan, M, Docampo, E, Lissowska, J, Hauser, J, Tortorella, A, Maj, M, Gonidakis, F, Tziouvas, K, Papezova, H, Yilmaz, Z, Wagner, G, Cohen-Woods, S, Herms, S, Julia, A, Rabionet, R, Dick, D, Ripatti, S, Andreassen, O, Espeseth, T, Lundervold, A, Steen, V, Pinto, D, Scherer, S, Aschauer, H, Schosser, A, Alfredsson, L, Padyukov, L, Halmi, K, Mitchell, J, Strober, M, Bergen, A, Kaye, W, Szatkiewicz, J, Cormand, B, Ramos-Quiroga, J, Sánchez-Mora, C, Ribasés, M, Casas, M, Hervas, A, Arranz, M, Haavik, J, Zayats, T, Johansson, S, Williams, N, Dempfle, A, Rothenberger, A, Kuntsi, J, Oades, R, Banaschewski, T, Franke, B, Buitelaar, J, Vasquez, A, Doyle, A, Reif, A, Lesch, K, Freitag, C, Rivero, O, Palmason, H, Romanos, M, Langley, K, Rietschel, M, Witt, S, Dalsgaard, S, Børglum, A, Waldman, I, Wilmot, B, Molly, N, Bau, C, Crosbie, J, Schachar, R, Loo, S, Mcgough, J, 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Sinnamon, G, Wray, N, Macintyre, D, Porteous, D, Homuth, G, Rivera, M, Grove, J, Middeldorp, C, Hickie, I, Pergadia, M, Mehta, D, Smit, J, Jansen, R, De Geus, E, Dunn, E, Li, Q, Nauck, M, Schoevers, R, Beekman, A, Knowles, J, Viktorin, A, Arnold, P, Barr, C, Bedoya-Berrio, G, Joseph Bienvenu, O, Brentani, H, Burton, C, Camarena, B, Cappi, C, Cath, D, Cavallini, M, Cusi, D, Darrow, S, Denys, D, Derks, E, Dietrich, A, Fernandez, T, Figee, M, Freimer, N, Gerber, G, Grados, M, Greenberg, E, Hanna, G, Hartmann, A, Hirschtritt, M, Hoekstra, P, Huang, A, Huyser, C, Illmann, C, Jenike, M, Kuperman, S, Leventhal, B, Lochner, C, Lyon, G, Macciardi, F, Madruga-Garrido, M, Malaty, I, Maras, A, Mcgrath, L, Miguel, E, Mir, P, Nestadt, G, Nicolini, H, Okun, M, Pakstis, A, Paschou, P, Piacentini, J, Pittenger, C, Plessen, K, Ramensky, V, Ramos, E, Reus, V, Richter, M, Riddle, M, Robertson, M, Roessner, V, Rosário, M, Samuels, J, Sandor, P, Stein, D, Tsetsos, F, Van Nieuwerburgh, F, Weatherall, S, Wendland, J, Wolanczyk, T, Worbe, Y, Zai, G, Goes, F, Mclaughlin, N, Nestadt, P, Grabe, H, Depienne, C, Konkashbaev, A, Lanzagorta, N, Valencia-Duarte, A, Bramon, E, Buccola, N, Cahn, W, Cairns, M, Chong, S, Cohen, D, Crespo-Facorro, B, Crowley, J, Davidson, M, Delisi, L, Dinan, T, Donohoe, G, Drapeau, E, Duan, J, Haan, L, Hougaard, D, Karachanak-Yankova, S, Khrunin, A, Klovins, J, Kučinskas, V, Keong, J, Limborska, S, Loughland, C, Lönnqvist, J, Maher, B, Mattheisen, M, Mcdonald, C, Murphy, K, Nenadic, I, Van Os, J, Pantelis, C, Pato, M, Petryshen, T, Quested, D, Roussos, P, Sanders, A, Schall, U, Schwab, S, Sim, K, So, H, Stögmann, E, Subramaniam, M, Toncheva, D, Waddington, J, Walters, J, Weiser, M, Cheng, W, Cloninger, R, Curtis, D, Gejman, P, Henskens, F, Mattingsdal, M, Oh, S, Scott, R, Webb, B, Breen, G, Churchhouse, C, Bulik, C, Daly, M, Dichgans, M, Faraone, S, Guerreiro, R, Holmans, P, Kendler, K, Koeleman, B, Mathews, C, Price, A, Scharf, J, Sklar, P, Williams, J, Wood, N, Cotsapas, C, Palotie, A, Smoller, J, Sullivan, P, Rosand, J, Corvin, A, Neale, B, Anttila, Verneri, Bulik-Sullivan, Brendan, Finucane, Hilary K., Walters, Raymond K., Bras, Jose, Duncan, Laramie, Escott-Price, Valentina, Falcone, Guido J., Gormley, Padhraig, Malik, Rainer, Patsopoulos, Nikolaos A., Ripke, Stephan, Wei, Zhi, Yu, Dongmei, Lee, Phil H., Turley, Patrick, Grenier-Boley, Benjamin, Chouraki, Vincent, Kamatani, Yoichiro, Berr, Claudine, Letenneur, Luc, Hannequin, Didier, Amouyel, Philippe, Boland, Anne, Deleuze, Jean-François, Duron, Emmanuelle, Vardarajan, Badri N., Reitz, Christiane, Goate, Alison M., Huentelman, Matthew J., Ilyas Kamboh, M., Larson, Eric B., Rogaeva, Ekaterina, George-Hyslop, Peter St, Hakonarson, Hakon, Kukull, Walter A., Farrer, Lindsay A., Barnes, Lisa L., Beach, Thomas G., Yesim Demirci, F., Head, Elizabeth, Hulette, Christine M., Jicha, Gregory A., Kauwe, John S. K., Kaye, Jeffrey A., Leverenz, James B., Levey, Allan I., Lieberman, Andrew P., Pankratz, Vernon S., Poon, Wayne W., Quinn, Joseph F., Saykin, Andrew J., Schneider, Lon S., Smith, Amanda G., Sonnen, Joshua A., Stern, Robert A., Van Deerlin, Vivianna M., Van Eldik, Linda J., Harold, Denise, Russo, Giancarlo, Rubinsztein, David C., Bayer, Anthony, Tsolaki, Magda, Proitsi, Petra, Fox, Nick C., Hampel, Harald, Owen, Michael J., Mead, Simon, Passmore, Peter, Morgan, Kevin, Nöthen, Markus M., Rossor, Martin, Lupton, Michelle K., Hoffmann, Per, Kornhuber, Johannes, Lawlor, Brian, McQuillin, Andrew, Al-Chalabi, Ammar, Bis, Joshua C., Ruiz, Agustin, Boada, Mercè, Seshadri, Sudha, Beiser, Alexa, Rice, Kenneth, Van Der Lee, Sven J., De Jager, Philip L., Geschwind, Daniel H., Riemenschneider, Matthias, Riedel-Heller, Steffi, Rotter, Jerome I., Ransmayr, Gerhard, Hyman, Bradley T., Cruchaga, Carlos, Alegret, Montserrat, Winsvold, Bendik, Palta, Priit, Farh, Kai-How, Cuenca-Leon, Ester, Furlotte, Nicholas, Kurth, Tobias, Ligthart, Lannie, Terwindt, Gisela M., Freilinger, Tobias, Ran, Caroline, Gordon, Scott D., Borck, Guntram, Adams, Hieab H. H., Lehtimäki, Terho, Wedenoja, Juho, Buring, Julie E., Schürks, Markus, Hrafnsdottir, Maria, Hottenga, Jouke-Jan, Penninx, Brenda, Artto, Ville, Kaunisto, Mari, Vepsäläinen, Salli, Martin, Nicholas G., Montgomery, Grant W., Kurki, Mitja I., Hämäläinen, Eija, Huang, Hailiang, Huang, Jie, Sandor, Cynthia, Webber, Caleb, Muller-Myhsok, Bertram, Schreiber, Stefan, Salomaa, Veikko, Loehrer, Elizabeth, Göbel, Hartmut, Macaya, Alfons, Pozo-Rosich, Patricia, Hansen, Thomas, Werge, Thomas, Kaprio, Jaakko, Metspalu, Andres, Kubisch, Christian, Ferrari, Michel D., Belin, Andrea C., Van Den Maagdenberg, Arn M. J. M., Zwart, John-Anker, Boomsma, Dorret, Eriksson, Nicholas, Olesen, Jes, Chasman, Daniel I., Nyholt, Dale R., Avbersek, Andreja, Baum, Larry, Berkovic, Samuel, Bradfield, Jonathan, Buono, Russell, Catarino, Claudia B., Cossette, Patrick, De Jonghe, Peter, Depondt, Chantal, Dlugos, Dennis, Ferraro, Thomas N., French, Jacqueline, Hjalgrim, Helle, Jamnadas-Khoda, Jennifer, Kälviäinen, Reetta, Kunz, Wolfram S., Lerche, Holger, Leu, Costin, Lindhout, Dick, Lo, Warren, Lowenstein, Daniel, McCormack, Mark, Møller, Rikke S., Molloy, Anne, Ng, Ping-Wing, Oliver, Karen, Privitera, Michael, Radtke, Rodney, Ruppert, Ann-Kathrin, Sander, Thomas, Schachter, Steven, Schankin, Christoph, Scheffer, Ingrid, Schoch, Susanne, Sisodiya, Sanjay M., Smith, Philip, Sperling, Michael, Striano, Pasquale, Surges, Rainer, Neil Thomas, G., Visscher, Frank, Whelan, Christopher D., Zara, Federico, Heinzen, Erin L., Marson, Anthony, Becker, Felicitas, Stroink, Hans, Zimprich, Fritz, Gasser, Thomas, Gibbs, Raphael, Heutink, Peter, Martinez, Maria, Morris, Huw R., Sharma, Manu, Ryten, Mina, Mok, Kin Y., Pulit, Sara, Bevan, Steve, Holliday, Elizabeth, Attia, John, Battey, Thomas, BONCORAGLIO, GIORGIO BATTISTA, Thijs, Vincent, Chen, Wei-Min, Mitchell, Braxton, Rothwell, Peter, Sharma, Pankaj, Sudlow, Cathie, Vicente, Astrid, Markus, Hugh, Kourkoulis, Christina, Pera, Joana, Raffeld, Miriam, Silliman, Scott, Perica, Vesna Boraska, Thornton, Laura M., Huckins, Laura M., William Rayner, N., Lewis, Cathryn M., Gratacos, Monica, Rybakowski, Filip, Keski-Rahkonen, Anna, Raevuori, Anu, Hudson, James I., Reichborn-Kjennerud, Ted, Monteleone, Palmiero, Karwautz, Andreas, Mannik, Katrin, Baker, Jessica H., O'Toole, Julie K., Trace, Sara E., Davis, Oliver S. P., Helder, Sietske G., Ehrlich, Stefan, Herpertz-Dahlmann, Beate, Danner, Unna N., Van Elburg, Annemarie A., Clementi, Maurizio, Forzan, Monica, Docampo, Elisa, Lissowska, Jolanta, Hauser, Joanna, Tortorella, Alfonso, Maj, Mario, Gonidakis, Fragiskos, Tziouvas, Konstantinos, Papezova, Hana, Yilmaz, Zeynep, Wagner, Gudrun, Cohen-Woods, Sarah, Herms, Stefan, Julia, Antonio, Rabionet, Raquel, Dick, Danielle M., Ripatti, Samuli, Andreassen, Ole A., Espeseth, Thomas, Lundervold, Astri J., Steen, Vidar M., Pinto, Dalila, Scherer, Stephen W., Aschauer, Harald, Schosser, Alexandra, Alfredsson, Lars, Padyukov, Leonid, Halmi, Katherine A., Mitchell, James, Strober, Michael, Bergen, Andrew W., Kaye, Walter, Szatkiewicz, Jin Peng, Cormand, Bru, Ramos-Quiroga, Josep Antoni, Sánchez-Mora, Cristina, Ribasés, Marta, Casas, Miguel, Hervas, Amaia, Arranz, Maria Jesús, Haavik, Jan, Zayats, Tetyana, Johansson, Stefan, Williams, Nigel, Dempfle, Astrid, Rothenberger, Aribert, Kuntsi, Jonna, Oades, Robert D., Banaschewski, Tobias, Franke, Barbara, Buitelaar, Jan K., Vasquez, Alejandro Arias, Doyle, Alysa E., Reif, Andreas, Lesch, Klaus-Peter, Freitag, Christine, Rivero, Olga, Palmason, Haukur, Romanos, Marcel, Langley, Kate, Rietschel, Marcella, Witt, Stephanie H., Dalsgaard, Soeren, Børglum, Anders D., Waldman, Irwin, Wilmot, Beth, Molly, Nikolas, Bau, Claiton H. D., Crosbie, Jennifer, Schachar, Russell, Loo, Sandra K., McGough, James J., Grevet, Eugenio H., Medland, Sarah E., Robinson, Elise, Weiss, Lauren A., Bacchelli, Elena, Bailey, Anthony, Bal, Vanessa, Battaglia, Agatino, Betancur, Catalina, Bolton, Patrick, Cantor, Rita, Celestino-Soper, Patrícia, Dawson, Geraldine, De Rubeis, Silvia, Duque, Frederico, Green, Andrew, Klauck, Sabine M., Leboyer, Marion, Levitt, Pat, Maestrini, Elena, Mane, Shrikant, Moreno-De-Luca, Daniel, Parr, Jeremy, Regan, Regina, Reichenberg, Abraham, Sandin, Sven, Vorstman, Jacob, Wassink, Thomas, Wijsman, Ellen, Cook, Edwin, Santangelo, Susan, Delorme, Richard, Roge, Bernadette, Magalhaes, Tiago, Arking, Dan, Schulze, Thomas G., Thompson, Robert C., Strohmaier, Jana, Matthews, Keith, Melle, Ingrid, Morris, Derek, Blackwood, Douglas, McIntosh, Andrew, Bergen, Sarah E., Schalling, Martin, Jamain, Stéphane, Maaser, Anna, Fischer, Sascha B., Reinbold, Céline S., Fullerton, Janice M., Guzman-Parra, José, Mayoral, Fermin, Schofield, Peter R., Cichon, Sven, Mühleisen, Thomas W., Degenhardt, Franziska, Schumacher, Johannes, Bauer, Michael, Mitchell, Philip B., Gershon, Elliot S., Rice, John, Potash, James B., Zandi, Peter P., Craddock, Nick, Nicol Ferrier, I., Alda, Martin, Rouleau, Guy A., Turecki, Gustavo, Ophoff, Roel, Pato, Carlos, Anjorin, Adebayo, Stahl, Eli, Leber, Markus, Czerski, Piotr M., Cruceanu, Cristiana, Jones, Ian R., Posthuma, Danielle, Andlauer, Till F. M., Forstner, Andreas J., Streit, Fabian, Baune, Bernhard T., Air, Tracy, Sinnamon, Grant, Wray, Naomi R., MacIntyre, Donald J., Porteous, David, Homuth, Georg, Rivera, Margarita, Grove, Jakob, Middeldorp, Christel M., Hickie, Ian, Pergadia, Michele, Mehta, Divya, Smit, Johannes H., Jansen, Rick, De Geus, Eco, Dunn, Erin, Li, Qingqin S., Nauck, Matthias, Schoevers, Robert A., Beekman, Aartjan TF, Knowles, James A., Viktorin, Alexander, Arnold, Paul, Barr, Cathy L., Bedoya-Berrio, Gabriel, Joseph Bienvenu, O., Brentani, Helena, Burton, Christie, Camarena, Beatriz, Cappi, Carolina, Cath, Danielle, Cavallini, Maria, Cusi, Daniele, Darrow, Sabrina, Denys, Damiaan, Derks, Eske M., Dietrich, Andrea, Fernandez, Thomas, Figee, Martijn, Freimer, Nelson, Gerber, Gloria, Grados, Marco, Greenberg, Erica, Hanna, Gregory L., Hartmann, Andreas, Hirschtritt, Matthew E., Hoekstra, Pieter J., Huang, Alden, Huyser, Chaim, Illmann, Cornelia, Jenike, Michael, Kuperman, Samuel, Leventhal, Bennett, Lochner, Christine, Lyon, Gholson J., Macciardi, Fabio, Madruga-Garrido, Marcos, Malaty, Irene A., Maras, Athanasios, McGrath, Lauren, Miguel, Eurípedes C., Mir, Pablo, Nestadt, Gerald, Nicolini, Humberto, Okun, Michael S., Pakstis, Andrew, Paschou, Peristera, Piacentini, John, Pittenger, Christopher, Plessen, Kerstin, Ramensky, Vasily, Ramos, Eliana M., Reus, Victor, Richter, Margaret A., Riddle, Mark A., Robertson, Mary M., Roessner, Veit, Rosário, Maria, Samuels, Jack F., Sandor, Paul, Stein, Dan J., Tsetsos, Fotis, Van Nieuwerburgh, Filip, Weatherall, Sarah, Wendland, Jens R., Wolanczyk, Tomasz, Worbe, Yulia, Zai, Gwyneth, Goes, Fernando S., McLaughlin, Nicole, Nestadt, Paul S., Grabe, Hans-Jorgen, Depienne, Christel, Konkashbaev, Anuar, Lanzagorta, Nuria, Valencia-Duarte, Ana, Bramon, Elvira, Buccola, Nancy, Cahn, Wiepke, Cairns, Murray, Chong, Siow A., Cohen, David, Crespo-Facorro, Benedicto, Crowley, James, Davidson, Michael, DeLisi, Lynn, Dinan, Timothy, Donohoe, Gary, Drapeau, Elodie, Duan, Jubao, Haan, Lieuwe, Hougaard, David, Karachanak-Yankova, Sena, Khrunin, Andrey, Klovins, Janis, Kučinskas, Vaidutis, Keong, Jimmy Lee Chee, Limborska, Svetlana, Loughland, Carmel, Lönnqvist, Jouko, Maher, Brion, Mattheisen, Manuel, McDonald, Colm, Murphy, Kieran C., Nenadic, Igor, Van Os, Jim, Pantelis, Christos, Pato, Michele, Petryshen, Tracey, Quested, Digby, Roussos, Panos, Sanders, Alan R., Schall, Ulrich, Schwab, Sibylle G., Sim, Kang, So, Hon-Cheong, Stögmann, Elisabeth, Subramaniam, Mythily, Toncheva, Draga, Waddington, John, Walters, James, Weiser, Mark, Cheng, Wei, Cloninger, Robert, Curtis, David, Gejman, Pablo V., Henskens, Frans, Mattingsdal, Morten, Oh, Sang-Yun, Scott, Rodney, Webb, Bradley, Breen, Gerome, Churchhouse, Claire, Bulik, Cynthia M., Daly, Mark, Dichgans, Martin, Faraone, Stephen V., Guerreiro, Rita, Holmans, Peter, Kendler, Kenneth S., Koeleman, Bobby, Mathews, Carol A., Price, Alkes, Scharf, Jeremiah, Sklar, Pamela, Williams, Julie, Wood, Nicholas W., Cotsapas, Chris, Palotie, Aarno, Smoller, Jordan W., Sullivan, Patrick, Rosand, Jonathan, Corvin, Aiden, and Neale, Benjamin M.
Abstract: Disorders of the brain can exhibit considerable epidemiological comorbidity and often share symptoms, provoking debate about their etiologic overlap. We quantified the genetic sharing of 25 brain disorders from genome-wide association studies of 265,218 patients and 784,643 control participants and assessed their relationship to 17 phenotypes from 1,191,588 individuals. Psychiatric disorders share common variant risk, whereas neurological disorders appear more distinct from one another and from the psychiatric disorders. We also identified significant sharing between disorders and a number of brain phenotypes, including cognitive measures. Further, we conducted simulations to explore how statistical power, diagnostic misclassification, and phenotypic heterogeneity affect genetic correlations. These results highlight the importance of common genetic variation as a risk factor for brain disorders and the value of heritability-based methods in understanding their etiology.
Published: 2018

8. DNM1 encephalopathy

Author: Von Spiczak, S, Helbig, KL, Shinde, DN, Huether, R, Pendziwiat, M, Lourenço, C, Nunes, ME, Sarco, DP, Kaplan, RA, Dlugos, DJ, Kirsch, H, Slavotinek, A, Cilio, MR, Cervenka, MC, Cohen, JS, McClellan, R, Fatemi, A, Yuen, A, Sagawa, Y, Littlejohn, R, McLean, SD, Hernandez-Hernandez, L, Maher, B, Møller, RS, Palmer, E, Lawson, JA, Campbell, CA, Joshi, CN, Kolbe, DL, Hollingsworth, G, Neubauer, BA, Muhle, H, Stephani, U, Scheffer, IE, Pena, SDJ, Sisodiya, SM, Helbig, I, Von Spiczak, S, Helbig, KL, Shinde, DN, Huether, R, Pendziwiat, M, Lourenço, C, Nunes, ME, Sarco, DP, Kaplan, RA, Dlugos, DJ, Kirsch, H, Slavotinek, A, Cilio, MR, Cervenka, MC, Cohen, JS, McClellan, R, Fatemi, A, Yuen, A, Sagawa, Y, Littlejohn, R, McLean, SD, Hernandez-Hernandez, L, Maher, B, Møller, RS, Palmer, E, Lawson, JA, Campbell, CA, Joshi, CN, Kolbe, DL, Hollingsworth, G, Neubauer, BA, Muhle, H, Stephani, U, Scheffer, IE, Pena, SDJ, Sisodiya, SM, and Helbig, I
Abstract: Objective: To evaluate the phenotypic spectrum caused by mutations in dynamin 1 (DNM1), encoding the presynaptic protein DNM1, and to investigate possible genotype-phenotype correlations and predicted functional consequences based on structural modeling. Methods: We reviewed phenotypic data of 21 patients (7 previously published) with DNM1 mutations. We compared mutation data to known functional data and undertook biomolecular modeling to assess the effect of the mutations on protein function. Results: We identified 19 patients with de novo mutations in DNM1 and a sibling pair who had an inherited mutation from a mosaic parent. Seven patients (33.3%) carried the recurrent p.Arg237Trp mutation. A common phenotype emerged that included severe to profound intellectual disability and muscular hypotonia in all patients and an epilepsy characterized by infantile spasms in 16 of 21 patients, frequently evolving into Lennox-Gastaut syndrome. Two patients had profound global developmental delay without seizures. In addition, we describe a single patient with normal development before the onset of a catastrophic epilepsy, consistent with febrile infection-related epilepsy syndrome at 4 years. All mutations cluster within the GTPase or middle domains, and structural modeling and existing functional data suggest a dominant-negative effect on DMN1 function. Conclusions: The phenotypic spectrum of DNM1-related encephalopathy is relatively homogeneous, in contrast to many other genetic epilepsies. Up to one-third of patients carry the recurrent p.Arg237Trp variant, which is now one of the most common recurrent variants in epileptic encephalopathies identified to date. Given the predicted dominant-negative mechanism of this mutation, this variant presents a prime target for therapeutic intervention.
Published: 2017

9. DNM1 encephalopathy A new disease of vesicle fission

Author: von Spiczak, S, Helbig, KL, Shinde, DN, Huether, R, Pendziwiat, M, Lourenco, C, Nunes, ME, Sarco, DP, Kaplan, RA, Dlugos, DJ, Kirsch, H, Slavotinek, A, Cilio, MR, Cervenka, MC, Cohen, JS, McClellan, R, Fatemi, A, Yuen, A, Sagawa, Y, Littlejohn, R, McLean, SD, Hernandez-Hernandez, L, Maher, B, Moller, RS, Palmer, E, Lawson, JA, Campbell, CA, Joshi, CN, Kolbe, DL, Hollingsworth, G, Neubauer, BA, Muhle, H, Stephani, U, Scheffer, IE, Pena, SDJ, Sisodiya, SM, Helbig, I, von Spiczak, S, Helbig, KL, Shinde, DN, Huether, R, Pendziwiat, M, Lourenco, C, Nunes, ME, Sarco, DP, Kaplan, RA, Dlugos, DJ, Kirsch, H, Slavotinek, A, Cilio, MR, Cervenka, MC, Cohen, JS, McClellan, R, Fatemi, A, Yuen, A, Sagawa, Y, Littlejohn, R, McLean, SD, Hernandez-Hernandez, L, Maher, B, Moller, RS, Palmer, E, Lawson, JA, Campbell, CA, Joshi, CN, Kolbe, DL, Hollingsworth, G, Neubauer, BA, Muhle, H, Stephani, U, Scheffer, IE, Pena, SDJ, Sisodiya, SM, and Helbig, I
Abstract: OBJECTIVE: To evaluate the phenotypic spectrum caused by mutations in dynamin 1 (DNM1), encoding the presynaptic protein DNM1, and to investigate possible genotype-phenotype correlations and predicted functional consequences based on structural modeling. METHODS: We reviewed phenotypic data of 21 patients (7 previously published) with DNM1 mutations. We compared mutation data to known functional data and undertook biomolecular modeling to assess the effect of the mutations on protein function. RESULTS: We identified 19 patients with de novo mutations in DNM1 and a sibling pair who had an inherited mutation from a mosaic parent. Seven patients (33.3%) carried the recurrent p.Arg237Trp mutation. A common phenotype emerged that included severe to profound intellectual disability and muscular hypotonia in all patients and an epilepsy characterized by infantile spasms in 16 of 21 patients, frequently evolving into Lennox-Gastaut syndrome. Two patients had profound global developmental delay without seizures. In addition, we describe a single patient with normal development before the onset of a catastrophic epilepsy, consistent with febrile infection-related epilepsy syndrome at 4 years. All mutations cluster within the GTPase or middle domains, and structural modeling and existing functional data suggest a dominant-negative effect on DMN1 function. CONCLUSIONS: The phenotypic spectrum of DNM1-related encephalopathy is relatively homogeneous, in contrast to many other genetic epilepsies. Up to one-third of patients carry the recurrent p.Arg237Trp variant, which is now one of the most common recurrent variants in epileptic encephalopathies identified to date. Given the predicted dominant-negative mechanism of this mutation, this variant presents a prime target for therapeutic intervention.
Published: 2017

10. Whole-genome association analysis of treatment response in obsessive-compulsive disorder.

Author: Qin, H, Qin, H, Samuels, JF, Wang, Y, Zhu, Y, Grados, MA, Riddle, MA, Greenberg, BD, Knowles, JA, Fyer, AJ, McCracken, JT, Murphy, DL, Rasmussen, SA, Cullen, BA, Piacentini, J, Geller, D, Stewart, SE, Pauls, D, Bienvenu, OJ, Goes, FS, Maher, B, Pulver, AE, Valle, D, Lange, C, Mattheisen, M, McLaughlin, NC, Liang, K-Y, Nurmi, EL, Askland, KD, Nestadt, G, Shugart, YY, Qin, H, Qin, H, Samuels, JF, Wang, Y, Zhu, Y, Grados, MA, Riddle, MA, Greenberg, BD, Knowles, JA, Fyer, AJ, McCracken, JT, Murphy, DL, Rasmussen, SA, Cullen, BA, Piacentini, J, Geller, D, Stewart, SE, Pauls, D, Bienvenu, OJ, Goes, FS, Maher, B, Pulver, AE, Valle, D, Lange, C, Mattheisen, M, McLaughlin, NC, Liang, K-Y, Nurmi, EL, Askland, KD, Nestadt, G, and Shugart, YY
Abstract: Up to 30% of patients with obsessive-compulsive disorder (OCD) exhibit an inadequate response to serotonin reuptake inhibitors (SRIs). To date, genetic predictors of OCD treatment response have not been systematically investigated using genome-wide association study (GWAS). To identify specific genetic variations potentially influencing SRI response, we conducted a GWAS study in 804 OCD patients with information on SRI response. SRI response was classified as 'response' (n=514) or 'non-response' (n=290), based on self-report. We used the more powerful Quasi-Likelihood Score Test (the MQLS test) to conduct a genome-wide association test correcting for relatedness, and then used an adjusted logistic model to evaluate the effect size of the variants in probands. The top single-nucleotide polymorphism (SNP) was rs17162912 (P=1.76 × 10(-8)), which is near the DISP1 gene on 1q41-q42, a microdeletion region implicated in neurological development. The other six SNPs showing suggestive evidence of association (P<10(-5)) were rs9303380, rs12437601, rs16988159, rs7676822, rs1911877 and rs723815. Among them, two SNPs in strong linkage disequilibrium, rs7676822 and rs1911877, located near the PCDH10 gene, gave P-values of 2.86 × 10(-6) and 8.41 × 10(-6), respectively. The other 35 variations with signals of potential significance (P<10(-4)) involve multiple genes expressed in the brain, including GRIN2B, PCDH10 and GPC6. Our enrichment analysis indicated suggestive roles of genes in the glutamatergic neurotransmission system (false discovery rate (FDR)=0.0097) and the serotonergic system (FDR=0.0213). Although the results presented may provide new insights into genetic mechanisms underlying treatment response in OCD, studies with larger sample sizes and detailed information on drug dosage and treatment duration are needed.
Published: 2016

11. Whole-genome association analysis of treatment response in obsessive-compulsive disorder.

Author: Qin, H, Qin, H, Samuels, JF, Wang, Y, Zhu, Y, Grados, MA, Riddle, MA, Greenberg, BD, Knowles, JA, Fyer, AJ, McCracken, JT, Murphy, DL, Rasmussen, SA, Cullen, BA, Piacentini, J, Geller, D, Stewart, SE, Pauls, D, Bienvenu, OJ, Goes, FS, Maher, B, Pulver, AE, Valle, D, Lange, C, Mattheisen, M, McLaughlin, NC, Liang, K-Y, Nurmi, EL, Askland, KD, Nestadt, G, Shugart, YY, Qin, H, Qin, H, Samuels, JF, Wang, Y, Zhu, Y, Grados, MA, Riddle, MA, Greenberg, BD, Knowles, JA, Fyer, AJ, McCracken, JT, Murphy, DL, Rasmussen, SA, Cullen, BA, Piacentini, J, Geller, D, Stewart, SE, Pauls, D, Bienvenu, OJ, Goes, FS, Maher, B, Pulver, AE, Valle, D, Lange, C, Mattheisen, M, McLaughlin, NC, Liang, K-Y, Nurmi, EL, Askland, KD, Nestadt, G, and Shugart, YY
Abstract: Up to 30% of patients with obsessive-compulsive disorder (OCD) exhibit an inadequate response to serotonin reuptake inhibitors (SRIs). To date, genetic predictors of OCD treatment response have not been systematically investigated using genome-wide association study (GWAS). To identify specific genetic variations potentially influencing SRI response, we conducted a GWAS study in 804 OCD patients with information on SRI response. SRI response was classified as 'response' (n=514) or 'non-response' (n=290), based on self-report. We used the more powerful Quasi-Likelihood Score Test (the MQLS test) to conduct a genome-wide association test correcting for relatedness, and then used an adjusted logistic model to evaluate the effect size of the variants in probands. The top single-nucleotide polymorphism (SNP) was rs17162912 (P=1.76 × 10(-8)), which is near the DISP1 gene on 1q41-q42, a microdeletion region implicated in neurological development. The other six SNPs showing suggestive evidence of association (P<10(-5)) were rs9303380, rs12437601, rs16988159, rs7676822, rs1911877 and rs723815. Among them, two SNPs in strong linkage disequilibrium, rs7676822 and rs1911877, located near the PCDH10 gene, gave P-values of 2.86 × 10(-6) and 8.41 × 10(-6), respectively. The other 35 variations with signals of potential significance (P<10(-4)) involve multiple genes expressed in the brain, including GRIN2B, PCDH10 and GPC6. Our enrichment analysis indicated suggestive roles of genes in the glutamatergic neurotransmission system (false discovery rate (FDR)=0.0097) and the serotonergic system (FDR=0.0213). Although the results presented may provide new insights into genetic mechanisms underlying treatment response in OCD, studies with larger sample sizes and detailed information on drug dosage and treatment duration are needed.
Published: 2016

12. Stimulating community action for suicide prevention: findings on the effectiveness of the Australian R U OK? Campaign

Author: Mok, K, Donovan, R, Hocking, B, Maher, B, Lewis, R, Pirkis, J, Mok, K, Donovan, R, Hocking, B, Maher, B, Lewis, R, and Pirkis, J
Published: 2016

13. Whole-genome association analysis of treatment response in obsessive-compulsive disorder.

Author: Qin, H, Qin, H, Samuels, JF, Wang, Y, Zhu, Y, Grados, MA, Riddle, MA, Greenberg, BD, Knowles, JA, Fyer, AJ, McCracken, JT, Murphy, DL, Rasmussen, SA, Cullen, BA, Piacentini, J, Geller, D, Stewart, SE, Pauls, D, Bienvenu, OJ, Goes, FS, Maher, B, Pulver, AE, Valle, D, Lange, C, Mattheisen, M, McLaughlin, NC, Liang, K-Y, Nurmi, EL, Askland, KD, Nestadt, G, Shugart, YY, Qin, H, Qin, H, Samuels, JF, Wang, Y, Zhu, Y, Grados, MA, Riddle, MA, Greenberg, BD, Knowles, JA, Fyer, AJ, McCracken, JT, Murphy, DL, Rasmussen, SA, Cullen, BA, Piacentini, J, Geller, D, Stewart, SE, Pauls, D, Bienvenu, OJ, Goes, FS, Maher, B, Pulver, AE, Valle, D, Lange, C, Mattheisen, M, McLaughlin, NC, Liang, K-Y, Nurmi, EL, Askland, KD, Nestadt, G, and Shugart, YY
Abstract: Up to 30% of patients with obsessive-compulsive disorder (OCD) exhibit an inadequate response to serotonin reuptake inhibitors (SRIs). To date, genetic predictors of OCD treatment response have not been systematically investigated using genome-wide association study (GWAS). To identify specific genetic variations potentially influencing SRI response, we conducted a GWAS study in 804 OCD patients with information on SRI response. SRI response was classified as 'response' (n=514) or 'non-response' (n=290), based on self-report. We used the more powerful Quasi-Likelihood Score Test (the MQLS test) to conduct a genome-wide association test correcting for relatedness, and then used an adjusted logistic model to evaluate the effect size of the variants in probands. The top single-nucleotide polymorphism (SNP) was rs17162912 (P=1.76 × 10(-8)), which is near the DISP1 gene on 1q41-q42, a microdeletion region implicated in neurological development. The other six SNPs showing suggestive evidence of association (P<10(-5)) were rs9303380, rs12437601, rs16988159, rs7676822, rs1911877 and rs723815. Among them, two SNPs in strong linkage disequilibrium, rs7676822 and rs1911877, located near the PCDH10 gene, gave P-values of 2.86 × 10(-6) and 8.41 × 10(-6), respectively. The other 35 variations with signals of potential significance (P<10(-4)) involve multiple genes expressed in the brain, including GRIN2B, PCDH10 and GPC6. Our enrichment analysis indicated suggestive roles of genes in the glutamatergic neurotransmission system (false discovery rate (FDR)=0.0097) and the serotonergic system (FDR=0.0213). Although the results presented may provide new insights into genetic mechanisms underlying treatment response in OCD, studies with larger sample sizes and detailed information on drug dosage and treatment duration are needed.
Published: 2016

14. Stimulating community action for suicide prevention: findings on the effectiveness of the Australian R U OK? campaign

Author: Mok, K., Donovan, Robert, Hocking, B., Maher, B., Lewis, R., Pirkis, J., Mok, K., Donovan, Robert, Hocking, B., Maher, B., Lewis, R., and Pirkis, J.
Abstract: R U OK? is an Australian-based organisation that aims to prevent suicide by empowering and encouraging community members to have regular, meaningful conversations with those around them by asking, ‘Are you ok?’ One of the organisation’s main activities is ‘R U OK? Day’, a national day of action held in Australia every year to remind people of the importance of connecting with and supporting those around them who may be troubled. This paper primarily examines data from a 2014 Australia-wide population survey evaluating the effectiveness of the R U OK? campaign in promoting its message. Following R U OK? Day in 2014, approximately two-thirds of participants reported being aware of R U OK?, with one in five of these participating in R U OK? Day activities. Overall, people believed that the R U OK? campaign has a positive impact on people’s willingness to talk to others about their problems and seek professional help, and in reducing the stigma associated with help-seeking. The findings were positive, but future work should also investigate outcomes such as knowledge, stigma and help-seeking in order to demonstrate the efficacy of the campaign.
Published: 2016

15. Genome-wide association study in obsessive-compulsive disorder: results from the OCGAS.

Author: Mattheisen, M, Mattheisen, M, Samuels, JF, Wang, Y, Greenberg, BD, Fyer, AJ, McCracken, JT, Geller, DA, Murphy, DL, Knowles, JA, Grados, MA, Riddle, MA, Rasmussen, SA, McLaughlin, NC, Nurmi, EL, Askland, KD, Qin, H-D, Cullen, BA, Piacentini, J, Pauls, DL, Bienvenu, OJ, Stewart, SE, Liang, K-Y, Goes, FS, Maher, B, Pulver, AE, Shugart, YY, Valle, D, Lange, C, Nestadt, G, Mattheisen, M, Mattheisen, M, Samuels, JF, Wang, Y, Greenberg, BD, Fyer, AJ, McCracken, JT, Geller, DA, Murphy, DL, Knowles, JA, Grados, MA, Riddle, MA, Rasmussen, SA, McLaughlin, NC, Nurmi, EL, Askland, KD, Qin, H-D, Cullen, BA, Piacentini, J, Pauls, DL, Bienvenu, OJ, Stewart, SE, Liang, K-Y, Goes, FS, Maher, B, Pulver, AE, Shugart, YY, Valle, D, Lange, C, and Nestadt, G
Abstract: Obsessive-compulsive disorder (OCD) is a psychiatric condition characterized by intrusive thoughts and urges and repetitive, intentional behaviors that cause significant distress and impair functioning. The OCD Collaborative Genetics Association Study (OCGAS) is comprised of comprehensively assessed OCD patients with an early age of OCD onset. After application of a stringent quality control protocol, a total of 1065 families (containing 1406 patients with OCD), combined with population-based samples (resulting in a total sample of 5061 individuals), were studied. An integrative analyses pipeline was utilized, involving association testing at single-nucleotide polymorphism (SNP) and gene levels (via a hybrid approach that allowed for combined analyses of the family- and population-based data). The smallest P-value was observed for a marker on chromosome 9 (near PTPRD, P=4.13 × 10(-)(7)). Pre-synaptic PTPRD promotes the differentiation of glutamatergic synapses and interacts with SLITRK3. Together, both proteins selectively regulate the development of inhibitory GABAergic synapses. Although no SNPs were identified as associated with OCD at genome-wide significance level, follow-up analyses of genome-wide association study (GWAS) signals from a previously published OCD study identified significant enrichment (P=0.0176). Secondary analyses of high-confidence interaction partners of DLGAP1 and GRIK2 (both showing evidence for association in our follow-up and the original GWAS study) revealed a trend of association (P=0.075) for a set of genes such as NEUROD6, SV2A, GRIA4, SLC1A2 and PTPRD. Analyses at the gene level revealed association of IQCK and C16orf88 (both P<1 × 10(-)(6), experiment-wide significant), as well as OFCC1 (P=6.29 × 10(-)(5)). The suggestive findings in this study await replication in larger samples.
Published: 2015

16. DE NOVO LOSS- OR GAIN-OF-FUNCTION MUTATIONS IN KCNA2 CAUSE EPILEPTIC ENCEPHALOPATHY

Author: Syrbe, S., Hedrich, U., Riesch, E., Djemie, T., Mueller, S., Moller, R. S., Maher, B., Hernandez-Hernandez, L., Synofzik, M., Caglayan, H., Arslan, M., Serratosa, J., Nothnagel, M., May, P., Krause, R., Loeffler, H., Detert, K., Dorn, T., Vogt, H., Kraemer, G., Schoels, L., Mullis, P., Linnankivi, T., Lehesjoki, A. -E., Sterbova, K., Craiu, D., Hoffman-Zacharska, D., Korff, C., Weber, Y., Steinlin, M., Gallati, S., Bertsche, A., Bernhard, M., Merkenschlager, A., Kiess, W., Gonzalez, M., Zuechner, S., Palotie, A., Suls, A., De Jonghe, P., Helbig, I., Biskup, S., Wolff, M., Maljevic, S., Schuele, R., Sisodiya, S., Weckhuysen, S., Lerche, H., Lemke, J., Syrbe, S., Hedrich, U., Riesch, E., Djemie, T., Mueller, S., Moller, R. S., Maher, B., Hernandez-Hernandez, L., Synofzik, M., Caglayan, H., Arslan, M., Serratosa, J., Nothnagel, M., May, P., Krause, R., Loeffler, H., Detert, K., Dorn, T., Vogt, H., Kraemer, G., Schoels, L., Mullis, P., Linnankivi, T., Lehesjoki, A. -E., Sterbova, K., Craiu, D., Hoffman-Zacharska, D., Korff, C., Weber, Y., Steinlin, M., Gallati, S., Bertsche, A., Bernhard, M., Merkenschlager, A., Kiess, W., Gonzalez, M., Zuechner, S., Palotie, A., Suls, A., De Jonghe, P., Helbig, I., Biskup, S., Wolff, M., Maljevic, S., Schuele, R., Sisodiya, S., Weckhuysen, S., Lerche, H., and Lemke, J.
Published: 2015

17. DE NOVO LOSS- OR GAIN-OF-FUNCTION MUTATIONS IN KCNA2 CAUSE EPILEPTIC ENCEPHALOPATHY

Author: Syrbe, S., Hedrich, U., Riesch, E., Djemie, T., Mueller, S., Moller, R. S., Maher, B., Hernandez-Hernandez, L., Synofzik, M., Caglayan, H., Arslan, M., Serratosa, J., Nothnagel, M., May, P., Krause, R., Loeffler, H., Detert, K., Dorn, T., Vogt, H., Kraemer, G., Schoels, L., Mullis, P., Linnankivi, T., Lehesjoki, A. -E., Sterbova, K., Craiu, D., Hoffman-Zacharska, D., Korff, C., Weber, Y., Steinlin, M., Gallati, S., Bertsche, A., Bernhard, M., Merkenschlager, A., Kiess, W., Gonzalez, M., Zuechner, S., Palotie, A., Suls, A., De Jonghe, P., Helbig, I., Biskup, S., Wolff, M., Maljevic, S., Schuele, R., Sisodiya, S., Weckhuysen, S., Lerche, H., Lemke, J., Syrbe, S., Hedrich, U., Riesch, E., Djemie, T., Mueller, S., Moller, R. S., Maher, B., Hernandez-Hernandez, L., Synofzik, M., Caglayan, H., Arslan, M., Serratosa, J., Nothnagel, M., May, P., Krause, R., Loeffler, H., Detert, K., Dorn, T., Vogt, H., Kraemer, G., Schoels, L., Mullis, P., Linnankivi, T., Lehesjoki, A. -E., Sterbova, K., Craiu, D., Hoffman-Zacharska, D., Korff, C., Weber, Y., Steinlin, M., Gallati, S., Bertsche, A., Bernhard, M., Merkenschlager, A., Kiess, W., Gonzalez, M., Zuechner, S., Palotie, A., Suls, A., De Jonghe, P., Helbig, I., Biskup, S., Wolff, M., Maljevic, S., Schuele, R., Sisodiya, S., Weckhuysen, S., Lerche, H., and Lemke, J.
Published: 2015

18. Genome-wide Polygenic Burden of Rare Deleterious Variants in Sudden Unexpected Death in Epilepsy

Author: Leu, C, Balestrini, S, Maher, B, Hernandez-Hernandez, L, Gormley, P, Hamalainen, E, Heggeli, K, Schoeler, N, Novy, J, Willis, J, Plagnol, V, Ellis, R, Reavey, E, O'Regan, M, Pickrell, WO, Thomas, RH, Chung, S-K, Delanty, N, McMahon, JM, Malone, S, Sadleir, LG, Berkovic, SF, Nashef, L, Zuberi, SM, Rees, MI, Cavalleri, GL, Sander, JW, Hughes, E, Cross, JH, Scheffer, IE, Palotie, A, Sisodiya, SM, Leu, C, Balestrini, S, Maher, B, Hernandez-Hernandez, L, Gormley, P, Hamalainen, E, Heggeli, K, Schoeler, N, Novy, J, Willis, J, Plagnol, V, Ellis, R, Reavey, E, O'Regan, M, Pickrell, WO, Thomas, RH, Chung, S-K, Delanty, N, McMahon, JM, Malone, S, Sadleir, LG, Berkovic, SF, Nashef, L, Zuberi, SM, Rees, MI, Cavalleri, GL, Sander, JW, Hughes, E, Cross, JH, Scheffer, IE, Palotie, A, and Sisodiya, SM
Abstract: Sudden unexpected death in epilepsy (SUDEP) represents the most severe degree of the spectrum of epilepsy severity and is the commonest cause of epilepsy-related premature mortality. The precise pathophysiology and the genetic architecture of SUDEP remain elusive. Aiming to elucidate the genetic basis of SUDEP, we analysed rare, protein-changing variants from whole-exome sequences of 18 people who died of SUDEP, 87 living people with epilepsy and 1479 non-epilepsy disease controls. Association analysis revealed a significantly increased genome-wide polygenic burden per individual in the SUDEP cohort when compared to epilepsy (P = 5.7 × 10(- 3)) and non-epilepsy disease controls (P = 1.2 × 10(- 3)). The polygenic burden was driven both by the number of variants per individual, and over-representation of variants likely to be deleterious in the SUDEP cohort. As determined by this study, more than a thousand genes contribute to the observed polygenic burden within the framework of this study. Subsequent gene-based association analysis revealed five possible candidate genes significantly associated with SUDEP or epilepsy, but no one single gene emerges as common to the SUDEP cases. Our findings provide further evidence for a genetic susceptibility to SUDEP, and suggest an extensive polygenic contribution to SUDEP causation. Thus, an overall increased burden of deleterious variants in a highly polygenic background might be important in rendering a given individual more susceptible to SUDEP. Our findings suggest that exome sequencing in people with epilepsy might eventually contribute to generating SUDEP risk estimates, promoting stratified medicine in epilepsy, with the eventual aim of reducing an individual patient's risk of SUDEP.
Published: 2015

19. Genome-wide association study in obsessive-compulsive disorder: results from the OCGAS.

Author: Mattheisen, M, Mattheisen, M, Samuels, JF, Wang, Y, Greenberg, BD, Fyer, AJ, McCracken, JT, Geller, DA, Murphy, DL, Knowles, JA, Grados, MA, Riddle, MA, Rasmussen, SA, McLaughlin, NC, Nurmi, EL, Askland, KD, Qin, H-D, Cullen, BA, Piacentini, J, Pauls, DL, Bienvenu, OJ, Stewart, SE, Liang, K-Y, Goes, FS, Maher, B, Pulver, AE, Shugart, YY, Valle, D, Lange, C, Nestadt, G, Mattheisen, M, Mattheisen, M, Samuels, JF, Wang, Y, Greenberg, BD, Fyer, AJ, McCracken, JT, Geller, DA, Murphy, DL, Knowles, JA, Grados, MA, Riddle, MA, Rasmussen, SA, McLaughlin, NC, Nurmi, EL, Askland, KD, Qin, H-D, Cullen, BA, Piacentini, J, Pauls, DL, Bienvenu, OJ, Stewart, SE, Liang, K-Y, Goes, FS, Maher, B, Pulver, AE, Shugart, YY, Valle, D, Lange, C, and Nestadt, G
Abstract: Obsessive-compulsive disorder (OCD) is a psychiatric condition characterized by intrusive thoughts and urges and repetitive, intentional behaviors that cause significant distress and impair functioning. The OCD Collaborative Genetics Association Study (OCGAS) is comprised of comprehensively assessed OCD patients with an early age of OCD onset. After application of a stringent quality control protocol, a total of 1065 families (containing 1406 patients with OCD), combined with population-based samples (resulting in a total sample of 5061 individuals), were studied. An integrative analyses pipeline was utilized, involving association testing at single-nucleotide polymorphism (SNP) and gene levels (via a hybrid approach that allowed for combined analyses of the family- and population-based data). The smallest P-value was observed for a marker on chromosome 9 (near PTPRD, P=4.13 × 10(-)(7)). Pre-synaptic PTPRD promotes the differentiation of glutamatergic synapses and interacts with SLITRK3. Together, both proteins selectively regulate the development of inhibitory GABAergic synapses. Although no SNPs were identified as associated with OCD at genome-wide significance level, follow-up analyses of genome-wide association study (GWAS) signals from a previously published OCD study identified significant enrichment (P=0.0176). Secondary analyses of high-confidence interaction partners of DLGAP1 and GRIK2 (both showing evidence for association in our follow-up and the original GWAS study) revealed a trend of association (P=0.075) for a set of genes such as NEUROD6, SV2A, GRIA4, SLC1A2 and PTPRD. Analyses at the gene level revealed association of IQCK and C16orf88 (both P<1 × 10(-)(6), experiment-wide significant), as well as OFCC1 (P=6.29 × 10(-)(5)). The suggestive findings in this study await replication in larger samples.
Published: 2015

20. DE NOVO LOSS- OR GAIN-OF-FUNCTION MUTATIONS IN KCNA2 CAUSE EPILEPTIC ENCEPHALOPATHY

Author: Syrbe, S., Hedrich, U., Riesch, E., Djemie, T., Mueller, S., Moller, R. S., Maher, B., Hernandez-Hernandez, L., Synofzik, M., Caglayan, H., Arslan, M., Serratosa, J., Nothnagel, M., May, P., Krause, R., Loeffler, H., Detert, K., Dorn, T., Vogt, H., Kraemer, G., Schoels, L., Mullis, P., Linnankivi, T., Lehesjoki, A. -E., Sterbova, K., Craiu, D., Hoffman-Zacharska, D., Korff, C., Weber, Y., Steinlin, M., Gallati, S., Bertsche, A., Bernhard, M., Merkenschlager, A., Kiess, W., Gonzalez, M., Zuechner, S., Palotie, A., Suls, A., De Jonghe, P., Helbig, I., Biskup, S., Wolff, M., Maljevic, S., Schuele, R., Sisodiya, S., Weckhuysen, S., Lerche, H., Lemke, J., Syrbe, S., Hedrich, U., Riesch, E., Djemie, T., Mueller, S., Moller, R. S., Maher, B., Hernandez-Hernandez, L., Synofzik, M., Caglayan, H., Arslan, M., Serratosa, J., Nothnagel, M., May, P., Krause, R., Loeffler, H., Detert, K., Dorn, T., Vogt, H., Kraemer, G., Schoels, L., Mullis, P., Linnankivi, T., Lehesjoki, A. -E., Sterbova, K., Craiu, D., Hoffman-Zacharska, D., Korff, C., Weber, Y., Steinlin, M., Gallati, S., Bertsche, A., Bernhard, M., Merkenschlager, A., Kiess, W., Gonzalez, M., Zuechner, S., Palotie, A., Suls, A., De Jonghe, P., Helbig, I., Biskup, S., Wolff, M., Maljevic, S., Schuele, R., Sisodiya, S., Weckhuysen, S., Lerche, H., and Lemke, J.
Published: 2015

21. DE NOVO LOSS- OR GAIN-OF-FUNCTION MUTATIONS IN KCNA2 CAUSE EPILEPTIC ENCEPHALOPATHY

Author: Syrbe, S., Hedrich, U., Riesch, E., Djemie, T., Mueller, S., Moller, R. S., Maher, B., Hernandez-Hernandez, L., Synofzik, M., Caglayan, H., Arslan, M., Serratosa, J., Nothnagel, M., May, P., Krause, R., Loeffler, H., Detert, K., Dorn, T., Vogt, H., Kraemer, G., Schoels, L., Mullis, P., Linnankivi, T., Lehesjoki, A. -E., Sterbova, K., Craiu, D., Hoffman-Zacharska, D., Korff, C., Weber, Y., Steinlin, M., Gallati, S., Bertsche, A., Bernhard, M., Merkenschlager, A., Kiess, W., Gonzalez, M., Zuechner, S., Palotie, A., Suls, A., De Jonghe, P., Helbig, I., Biskup, S., Wolff, M., Maljevic, S., Schuele, R., Sisodiya, S., Weckhuysen, S., Lerche, H., Lemke, J., Syrbe, S., Hedrich, U., Riesch, E., Djemie, T., Mueller, S., Moller, R. S., Maher, B., Hernandez-Hernandez, L., Synofzik, M., Caglayan, H., Arslan, M., Serratosa, J., Nothnagel, M., May, P., Krause, R., Loeffler, H., Detert, K., Dorn, T., Vogt, H., Kraemer, G., Schoels, L., Mullis, P., Linnankivi, T., Lehesjoki, A. -E., Sterbova, K., Craiu, D., Hoffman-Zacharska, D., Korff, C., Weber, Y., Steinlin, M., Gallati, S., Bertsche, A., Bernhard, M., Merkenschlager, A., Kiess, W., Gonzalez, M., Zuechner, S., Palotie, A., Suls, A., De Jonghe, P., Helbig, I., Biskup, S., Wolff, M., Maljevic, S., Schuele, R., Sisodiya, S., Weckhuysen, S., Lerche, H., and Lemke, J.
Published: 2015

22. Design your individual pilot of a handover training module - Möglichkeiten der Vermittlung standardisierter Übergabeprozesse aus dem EU-Projekt PATIENT

Author: Schröder, H, Stieger, L, Druener, S, Maher, B, Orrego, C, Drachsler, H, Sopka, S, Schröder, H, Stieger, L, Druener, S, Maher, B, Orrego, C, Drachsler, H, and Sopka, S
Published: 2014

23. Design your individual pilot of a handover training module - Möglichkeiten der Vermittlung standardisierter Übergabeprozesse aus dem EU-Projekt PATIENT

Author: Schröder, H, Stieger, L, Druener, S, Maher, B, Orrego, C, Drachsler, H, Sopka, S, Schröder, H, Stieger, L, Druener, S, Maher, B, Orrego, C, Drachsler, H, and Sopka, S
Published: 2014

24. Probe Technology for the Direct Measurement and Sampling of Ellsworth Subglacial Lake

Author: Mowlem, Matthew C., Tsaloglou, Maria Nefeli, Waugh, Edward M., Floquet, Cedric F.A., Saw, Kevin, Fowler, Lee, Brown, Robin, Pearce, David, Wyatt, James B., Beaton, Alexander D., Brito, Mario P., Hodgson, Dominic A., Griffiths, Gwyn, Bentley, M., Blake, D., Capper, L., Clarke, R., Cockell, C., Corr, H., Harris, W., Hill, C., Hindmarsh, R., King, E., Lamb, H., Maher, B., Makinson, K., Parnell, J., Priscu, J., Rivera, A., Ross, N., Siegert, M. J., Smith, A., Tait, A., Tranter, M., Wadham, J., Whalley, B., Woodward, J., Mowlem, Matthew C., Tsaloglou, Maria Nefeli, Waugh, Edward M., Floquet, Cedric F.A., Saw, Kevin, Fowler, Lee, Brown, Robin, Pearce, David, Wyatt, James B., Beaton, Alexander D., Brito, Mario P., Hodgson, Dominic A., Griffiths, Gwyn, Bentley, M., Blake, D., Capper, L., Clarke, R., Cockell, C., Corr, H., Harris, W., Hill, C., Hindmarsh, R., King, E., Lamb, H., Maher, B., Makinson, K., Parnell, J., Priscu, J., Rivera, A., Ross, N., Siegert, M. J., Smith, A., Tait, A., Tranter, M., Wadham, J., Whalley, B., and Woodward, J.
Abstract: The direct measurement and sampling of Ellsworth Subglacial Lake is a multidisciplinary investigation of life in extreme environments and West Antarctic ice sheet history. The project's aims are (1) to determine whether, and in what form, microbial life exists in Antarctic subglacial lakes and (2) to reveal the post-Pliocene history of the West Antarctic Ice Sheet. A U.K. consortium has planned an extensive logistics and equipment development program that will deliver the necessary resources. This will include hot water drill technology for lake access through approximately 3.2 km of ice, a probe to make measurements with sensors and to collect water and sediment samples, and a percussion corer to acquire an ~3-4 m sediment core. This chapter details the requirements and early stages of design and development of the probe system. This includes the instrumentation package, water samplers, and a mini gravity corer mounted on the front of the probe. Initial design concepts for supporting equipment required at the drill site to deploy and operate the probe are also described. A review of the literature describing relevant technology is presented. The project will implement environmental protection in line with principles set out by the Scientific Committee on Antarctic Research.
Published: 2013

25. Standardisierte Medizinische Übergaben - Wie lernen, lehren und implementieren?

Author: Sopka, S, Druener, S, Stieger, L, Drachsler, H, Hartkopf, K, Orrego, C, Secanell, M, Maher, B, Henn, P, Sopka, S, Druener, S, Stieger, L, Drachsler, H, Hartkopf, K, Orrego, C, Secanell, M, Maher, B, and Henn, P
Published: 2013

26. Standardisierte Medizinische Übergaben - Wie lernen, lehren und implementieren?

Author: Sopka, S, Druener, S, Stieger, L, Drachsler, H, Hartkopf, K, Orrego, C, Secanell, M, Maher, B, Henn, P, Sopka, S, Druener, S, Stieger, L, Drachsler, H, Hartkopf, K, Orrego, C, Secanell, M, Maher, B, and Henn, P
Published: 2013

27. GWA study data mining and independent replication identify cardiomyopathy-associated 5 (CMYA5) as a risk gene for schizophrenia

Author: Chen, Xiangning, Lee, G, Maher, B S, Fanous, A H, Chen, J, Zhao, Zhongming, Guo, A, Van Den Oord, E, Sullivan, P F, Schwab, Sibylle G, Chen, Xiangning, Lee, G, Maher, B S, Fanous, A H, Chen, J, Zhao, Zhongming, Guo, A, Van Den Oord, E, Sullivan, P F, and Schwab, Sibylle G
Abstract: We conducted data-mining analyses using the Clinical Antipsychotic Trials of Intervention Effectiveness (CATIE) and molecular genetics of schizophrenia genome-wide association study supported by the genetic association information network (MGS-GAIN) schizophrenia data sets and performed bioinformatic prioritization for all the markers with P-values less than or equal to0.05 in both data sets. In this process, we found that in the CMYA5 gene, there were two non-synonymous markers, rs3828611 and rs10043986, showing nominal significance in both the CATIE and MGS-GAIN samples. In a combined analysis of both the CATIE and MGS-GAIN samples, rs4704591 was identified as the most significant marker in the gene. Linkage disequilibrium analyses indicated that these markers were in low LD (3 828 611-rs10043986, r2=0.008; rs10043986-rs4704591, r2=0.204). In addition, CMYA5 was reported to be physically interacting with the DTNBP1 gene, a promising candidate for schizophrenia, suggesting that CMYA5 may be involved in the same biological pathway and process. On the basis of this information, we performed replication studies for these three single-nucleotide polymorphisms. The rs3828611 was found to have conflicting results in our Irish samples and was dropped out without further investigation. The other two markers were verified in 23 other independent data sets. In a meta-analysis of all 23 replication samples (family samples, 912 families with 4160 subjects; case-control samples, 11 380 cases and 15 021 controls), we found that both markers are significantly associated with schizophrenia (rs10043986, odds ratio (OR)=1.11, 95% confidence interval (CI)=1.04-1.18, P=8.2 x 10−4 and rs4704591, OR=1.07, 95% CI=1.03-1.11, P=3.0 x 10−4). The results were also significant for the 22 Caucasian replication samples (rs10043986, OR=1.11, 95% CI=1.03-1.17, P=0.0026 and rs4704591, OR=1.07, 95% CI=1.02-1.11, P=0.0015). Furthermore, haplotype conditioned analyses indicated that the association s
Published: 2011

28. GWA study data mining and independent replication identify cardiomyopathy-associated 5 (CMYA5) as a risk gene for schizophrenia

Author: Chen, Xiangning, Lee, G, Maher, B S, Fanous, A H, Chen, J, Zhao, Zhongming, Guo, A, Van Den Oord, E, Sullivan, P F, Schwab, Sibylle G, Chen, Xiangning, Lee, G, Maher, B S, Fanous, A H, Chen, J, Zhao, Zhongming, Guo, A, Van Den Oord, E, Sullivan, P F, and Schwab, Sibylle G
Abstract: We conducted data-mining analyses using the Clinical Antipsychotic Trials of Intervention Effectiveness (CATIE) and molecular genetics of schizophrenia genome-wide association study supported by the genetic association information network (MGS-GAIN) schizophrenia data sets and performed bioinformatic prioritization for all the markers with P-values less than or equal to0.05 in both data sets. In this process, we found that in the CMYA5 gene, there were two non-synonymous markers, rs3828611 and rs10043986, showing nominal significance in both the CATIE and MGS-GAIN samples. In a combined analysis of both the CATIE and MGS-GAIN samples, rs4704591 was identified as the most significant marker in the gene. Linkage disequilibrium analyses indicated that these markers were in low LD (3 828 611-rs10043986, r2=0.008; rs10043986-rs4704591, r2=0.204). In addition, CMYA5 was reported to be physically interacting with the DTNBP1 gene, a promising candidate for schizophrenia, suggesting that CMYA5 may be involved in the same biological pathway and process. On the basis of this information, we performed replication studies for these three single-nucleotide polymorphisms. The rs3828611 was found to have conflicting results in our Irish samples and was dropped out without further investigation. The other two markers were verified in 23 other independent data sets. In a meta-analysis of all 23 replication samples (family samples, 912 families with 4160 subjects; case-control samples, 11 380 cases and 15 021 controls), we found that both markers are significantly associated with schizophrenia (rs10043986, odds ratio (OR)=1.11, 95% confidence interval (CI)=1.04-1.18, P=8.2 x 10−4 and rs4704591, OR=1.07, 95% CI=1.03-1.11, P=3.0 x 10−4). The results were also significant for the 22 Caucasian replication samples (rs10043986, OR=1.11, 95% CI=1.03-1.17, P=0.0026 and rs4704591, OR=1.07, 95% CI=1.02-1.11, P=0.0015). Furthermore, haplotype conditioned analyses indicated that the association s
Published: 2011

29. Probe technology for the direct measurement and sampling of Ellsworth Subglacial Lake

Author: Siegert, Martin J, Kennicutt, Mahlon C., II, Bindschadler, Robert A., Mowlem, M., Tsaloglou, M-N., Waugh, E., Floquet, C.F.A., Saw, K., Fowler, L., Brown, R., Pearce, D., Wyatt, J., Beaton, A.D., Brito, M.P., Hodgson, D., Griffiths, G., Bentley, M., Blake, D., Campbell, H., Capper, L., Clarke, R., Cockell, C., Corr, H., Harris, W., Hill, C., Hindmarsh, R., King, E., Lamb, H., Maher, B., Makinson, K., Parnell, J., Priscu, J., Rivera, A., Ross, N., Siegert, M.J., Smith, A., Tait, A., Tranter, M., Wadham, J., Whalley, B., Woodward, J., Siegert, Martin J, Kennicutt, Mahlon C., II, Bindschadler, Robert A., Mowlem, M., Tsaloglou, M-N., Waugh, E., Floquet, C.F.A., Saw, K., Fowler, L., Brown, R., Pearce, D., Wyatt, J., Beaton, A.D., Brito, M.P., Hodgson, D., Griffiths, G., Bentley, M., Blake, D., Campbell, H., Capper, L., Clarke, R., Cockell, C., Corr, H., Harris, W., Hill, C., Hindmarsh, R., King, E., Lamb, H., Maher, B., Makinson, K., Parnell, J., Priscu, J., Rivera, A., Ross, N., Siegert, M.J., Smith, A., Tait, A., Tranter, M., Wadham, J., Whalley, B., and Woodward, J.
Abstract: The direct measurement and sampling of Ellsworth Subglacial Lake is a multidisciplinary investigation of life in extreme environments and West Antarctic ice sheet history. The project's aims are (1) to determine whether, and in what form, microbial life exists in Antarctic subglacial lakes and (2) to reveal the post-Pliocene history of the West Antarctic Ice Sheet. A U.K. consortium has planned an extensive logistics and equipment development program that will deliver the necessary resources. This will include hot water drill technology for lake access through approximately 3.2 km of ice, a probe to make measurements with sensors and to collect water and sediment samples, and a percussion corer to acquire an ˜3–4 m sediment core. This chapter details the requirements and early stages of design and development of the probe system. This includes the instrumentation package, water samplers, and a mini gravity corer mounted on the front of the probe. Initial design concepts for supporting equipment required at the drill site to deploy and operate the probe are also described. A review of the literature describing relevant technology is presented. The project will implement environmental protection in line with principles set out by the Scientific Committee on Antarctic Research.
Published: 2011

30. Ellsworth Subglacial Lake, West Antarctica: A review of its history and recent field campaigns

Author: Siegert, Martin J, Kennicutt, Mahlon C., II, Bindschadler, Robert A., Ross, N., Siegert, M.J., Rivera, A., Bentley, M.J., Blake, David, Capper, Linda, Clarke, Rachel, Cockell, C.S., Corr, Hugh, Harris, W., Hill, Christopher, Hindmarsh, Richard, Hodgson, Dominic, King, Edward, Lamb, H., Maher, B., Makinson, Keith, Mowlem, M., Parnell, J., Pearce, David, Priscu, J., Smith, Andy, Tait, Andrew, Tranter, M., Wadham, J.L., Whalley, W.B., Woodward, J., Siegert, Martin J, Kennicutt, Mahlon C., II, Bindschadler, Robert A., Ross, N., Siegert, M.J., Rivera, A., Bentley, M.J., Blake, David, Capper, Linda, Clarke, Rachel, Cockell, C.S., Corr, Hugh, Harris, W., Hill, Christopher, Hindmarsh, Richard, Hodgson, Dominic, King, Edward, Lamb, H., Maher, B., Makinson, Keith, Mowlem, M., Parnell, J., Pearce, David, Priscu, J., Smith, Andy, Tait, Andrew, Tranter, M., Wadham, J.L., Whalley, W.B., and Woodward, J.
Abstract: Ellsworth Subglacial Lake, first observed in airborne radio echo sounding data acquired in 1978, is located within a long, deep subglacial trough within the Ellsworth Subglacial Highlands of West Antarctica. Geophysical surveys have characterized the lake, its subglacial catchment, and the thickness, structure, and flow of the overlying ice sheet. Covering 28.9 km2, Ellsworth Subglacial Lake is located below 2.9 to 3.3 km of ice at depths of −1361 to −1030 m. Seismic reflection data have shown the lake to be up to 156 m deep and underlain by unconsolidated sediments. Ice sheet flow over the lake is characterized by low velocities (<6 m yr−1), flow convergence, and longitudinal extension. The lake appears to be in steady state, although the hydrological balance may vary over glacial-interglacial cycles. Direct access, measurement, and sampling of Ellsworth Subglacial Lake are planned for the 2012/2013 Antarctic field season. The aims of this access experiment are to determine (1) the presence, character, and maintenance of microbial life in Antarctic subglacial lakes and (2) the Quaternary history of the West Antarctic ice sheet. Geophysical data have been used to define a preferred lake access site. The factors that make this location suitable for exploration are (1) a relatively thin overlying ice column (∼3.1 km), (2) a significant measured water depth (∼143 m), (3) >2 m of sediment below the lake floor, (4) water circulation modeling suggesting a melting ice-water interface, and (5) coring that can target the deepest point of the lake floor away from marginal, localized sediment sources.
Published: 2011

31. Ellsworth Subglacial Lake, West Antarctica:A review of its history and recent field campaigns

Author: Ross, N., Siegert, M. J., Rivera, A., Bentley, M. J., Blake, D., Capper, L., Clarke, R., Cockell, C. S., Corr, H. F.J., Harris, W., Hill, C., Hindmarsh, R. C.A., Hodgson, D. A., King, E. C., Lamb, H., Maher, B., Makinson, K., Mowlem, M., Parnell, J., Pearce, D. A., Priscu, J., Smith, A. M., Tait, A., Tranter, M., Wadham, J. L., Whalley, W. B., Woodward, J., Ross, N., Siegert, M. J., Rivera, A., Bentley, M. J., Blake, D., Capper, L., Clarke, R., Cockell, C. S., Corr, H. F.J., Harris, W., Hill, C., Hindmarsh, R. C.A., Hodgson, D. A., King, E. C., Lamb, H., Maher, B., Makinson, K., Mowlem, M., Parnell, J., Pearce, D. A., Priscu, J., Smith, A. M., Tait, A., Tranter, M., Wadham, J. L., Whalley, W. B., and Woodward, J.
Abstract: Ellsworth Subglacial Lake, first observed in airborne radio echo sounding data acquired in 1978, is located within a long, deep subglacial trough within the Ellsworth Subglacial Highlands of West Antarctica. Geophysical surveys have characterized the lake, its subglacial catchment, and the thickness, structure, and flow of the overlying ice sheet. Covering 28.9 km2, Ellsworth Subglacial Lake is located below 2.9 to 3.3 km of ice at depths of -1361 to -1030 m. Seismic reflection data have shown the lake to be up to 156 m deep and underlain by unconsolidated sediments. Ice sheet flow over the lake is characterized by low velocities (<6 m yr-1), flow convergence, and longitudinal extension. The lake appears to be in steady state, although the hydrological balance may vary over glacial-interglacial cycles. Direct access, measurement, and sampling of Ellsworth Subglacial Lake are planned for the 2012/2013 Antarctic field season. The aims of this access experiment are to determine (1) the presence, character, and maintenance of microbial life in Antarctic subglacial lakes and (2) the Quaternary history of the West Antarctic ice sheet. Geophysical data have been used to define a preferred lake access site. The factors that make this location suitable for exploration are (1) a relatively thin overlying ice column (~3.1 km), (2) a significant measured water depth (~143 m), (3) >2 m of sediment below the lake floor, (4) water circulation modeling suggesting a melting ice-water interface, and (5) coring that can target the deepest point of the lake floor away from marginal, localized sediment sources.
Published: 2011

32. GWA study data mining and independent replication identify cardiomyopathy-associated 5 (CMYA5) as a risk gene for schizophrenia

Author: Chen, X, Lee, G, Maher, B S, Fanous, A H, Chen, J, Zhao, Z, Guo, A, van den Oord, E, Sullivan, P F, Shi, J, Levinson, D F, Gejman, P V, Sanders, A, Duan, J, Owen, M J, Craddock, N J, O'Donovan, M C, Blackman, J, Lewis, D, Kirov, G K, Qin, W, Schwab, S, Wildenauer, D, Chowdari, K, Nimgaonkar, V, Straub, R E, Weinberger, D R, O'Neill, F A, Walsh, D, Bronstein, M, Darvasi, A, Lencz, T, Malhotra, A K, Rujescu, D, Giegling, I, Werge, T, Hansen, Thomas Folkmann, Ingason, A, Nöethen, M M, Rietschel, M, Cichon, S, Djurovic, S, Andreassen, O A, Cantor, R M, Ophoff, R, Corvin, A, Morris, D W, Gill, M, Pato, C N, Pato, M T, Macedo, A, Gurling, H M D, McQuillin, A, Pimm, J, Hultman, C, Lichtenstein, P, Sklar, P, Purcell, S M, Scolnick, E, St Clair, D, Blackwood, D H R, Kendler, K S, Chen, X, Lee, G, Maher, B S, Fanous, A H, Chen, J, Zhao, Z, Guo, A, van den Oord, E, Sullivan, P F, Shi, J, Levinson, D F, Gejman, P V, Sanders, A, Duan, J, Owen, M J, Craddock, N J, O'Donovan, M C, Blackman, J, Lewis, D, Kirov, G K, Qin, W, Schwab, S, Wildenauer, D, Chowdari, K, Nimgaonkar, V, Straub, R E, Weinberger, D R, O'Neill, F A, Walsh, D, Bronstein, M, Darvasi, A, Lencz, T, Malhotra, A K, Rujescu, D, Giegling, I, Werge, T, Hansen, Thomas Folkmann, Ingason, A, Nöethen, M M, Rietschel, M, Cichon, S, Djurovic, S, Andreassen, O A, Cantor, R M, Ophoff, R, Corvin, A, Morris, D W, Gill, M, Pato, C N, Pato, M T, Macedo, A, Gurling, H M D, McQuillin, A, Pimm, J, Hultman, C, Lichtenstein, P, Sklar, P, Purcell, S M, Scolnick, E, St Clair, D, Blackwood, D H R, and Kendler, K S
Abstract: We conducted data-mining analyses using the Clinical Antipsychotic Trials of Intervention Effectiveness (CATIE) and molecular genetics of schizophrenia genome-wide association study supported by the genetic association information network (MGS-GAIN) schizophrenia data sets and performed bioinformatic prioritization for all the markers with P-values ¿0.05 in both data sets. In this process, we found that in the CMYA5 gene, there were two non-synonymous markers, rs3828611 and rs10043986, showing nominal significance in both the CATIE and MGS-GAIN samples. In a combined analysis of both the CATIE and MGS-GAIN samples, rs4704591 was identified as the most significant marker in the gene. Linkage disequilibrium analyses indicated that these markers were in low LD (3¿828¿611-rs10043986, r(2)=0.008; rs10043986-rs4704591, r(2)=0.204). In addition, CMYA5 was reported to be physically interacting with the DTNBP1 gene, a promising candidate for schizophrenia, suggesting that CMYA5 may be involved in the same biological pathway and process. On the basis of this information, we performed replication studies for these three single-nucleotide polymorphisms. The rs3828611 was found to have conflicting results in our Irish samples and was dropped out without further investigation. The other two markers were verified in 23 other independent data sets. In a meta-analysis of all 23 replication samples (family samples, 912 families with 4160 subjects; case-control samples, 11¿380 cases and 15¿021 controls), we found that both markers are significantly associated with schizophrenia (rs10043986, odds ratio (OR)=1.11, 95% confidence interval (CI)=1.04-1.18, P=8.2 × 10(-4) and rs4704591, OR=1.07, 95% CI=1.03-1.11, P=3.0 × 10(-4)). The results were also significant for the 22 Caucasian replication samples (rs10043986, OR=1.11, 95% CI=1.03-1.17, P=0.0026 and rs4704591, OR=1.07, 95% CI=1.02-1.11, P=0.0015). Furthermore, haplotype conditioned analyses indicated that the association signals obser
Published: 2011

33. Ellsworth Subglacial Lake, West Antarctica:A review of its history and recent field campaigns

Author: Ross, N., Siegert, M. J., Rivera, A., Bentley, M. J., Blake, D., Capper, L., Clarke, R., Cockell, C. S., Corr, H. F.J., Harris, W., Hill, C., Hindmarsh, R. C.A., Hodgson, D. A., King, E. C., Lamb, H., Maher, B., Makinson, K., Mowlem, M., Parnell, J., Pearce, D. A., Priscu, J., Smith, A. M., Tait, A., Tranter, M., Wadham, J. L., Whalley, W. B., Woodward, J., Ross, N., Siegert, M. J., Rivera, A., Bentley, M. J., Blake, D., Capper, L., Clarke, R., Cockell, C. S., Corr, H. F.J., Harris, W., Hill, C., Hindmarsh, R. C.A., Hodgson, D. A., King, E. C., Lamb, H., Maher, B., Makinson, K., Mowlem, M., Parnell, J., Pearce, D. A., Priscu, J., Smith, A. M., Tait, A., Tranter, M., Wadham, J. L., Whalley, W. B., and Woodward, J.
Abstract: Ellsworth Subglacial Lake, first observed in airborne radio echo sounding data acquired in 1978, is located within a long, deep subglacial trough within the Ellsworth Subglacial Highlands of West Antarctica. Geophysical surveys have characterized the lake, its subglacial catchment, and the thickness, structure, and flow of the overlying ice sheet. Covering 28.9 km2, Ellsworth Subglacial Lake is located below 2.9 to 3.3 km of ice at depths of -1361 to -1030 m. Seismic reflection data have shown the lake to be up to 156 m deep and underlain by unconsolidated sediments. Ice sheet flow over the lake is characterized by low velocities (<6 m yr-1), flow convergence, and longitudinal extension. The lake appears to be in steady state, although the hydrological balance may vary over glacial-interglacial cycles. Direct access, measurement, and sampling of Ellsworth Subglacial Lake are planned for the 2012/2013 Antarctic field season. The aims of this access experiment are to determine (1) the presence, character, and maintenance of microbial life in Antarctic subglacial lakes and (2) the Quaternary history of the West Antarctic ice sheet. Geophysical data have been used to define a preferred lake access site. The factors that make this location suitable for exploration are (1) a relatively thin overlying ice column (~3.1 km), (2) a significant measured water depth (~143 m), (3) >2 m of sediment below the lake floor, (4) water circulation modeling suggesting a melting ice-water interface, and (5) coring that can target the deepest point of the lake floor away from marginal, localized sediment sources.
Published: 2011

34. GWA study data mining and independent replication identify cardiomyopathy-associated 5 (CMYA5) as a risk gene for schizophrenia

Author: Chen, X, Lee, G, Maher, B S, Fanous, A H, Chen, J, Zhao, Z, Guo, A, van den Oord, E, Sullivan, P F, Shi, J, Levinson, D F, Gejman, P V, Sanders, A, Duan, J, Owen, M J, Craddock, N J, O'Donovan, M C, Blackman, J, Lewis, D, Kirov, G K, Qin, W, Schwab, S, Wildenauer, D, Chowdari, K, Nimgaonkar, V, Straub, R E, Weinberger, D R, O'Neill, F A, Walsh, D, Bronstein, M, Darvasi, A, Lencz, T, Malhotra, A K, Rujescu, D, Giegling, I, Werge, T, Hansen, Thomas Folkmann, Ingason, A, Nöethen, M M, Rietschel, M, Cichon, S, Djurovic, S, Andreassen, O A, Cantor, R M, Ophoff, R, Corvin, A, Morris, D W, Gill, M, Pato, C N, Pato, M T, Macedo, A, Gurling, H M D, McQuillin, A, Pimm, J, Hultman, C, Lichtenstein, P, Sklar, P, Purcell, S M, Scolnick, E, St Clair, D, Blackwood, D H R, Kendler, K S, Chen, X, Lee, G, Maher, B S, Fanous, A H, Chen, J, Zhao, Z, Guo, A, van den Oord, E, Sullivan, P F, Shi, J, Levinson, D F, Gejman, P V, Sanders, A, Duan, J, Owen, M J, Craddock, N J, O'Donovan, M C, Blackman, J, Lewis, D, Kirov, G K, Qin, W, Schwab, S, Wildenauer, D, Chowdari, K, Nimgaonkar, V, Straub, R E, Weinberger, D R, O'Neill, F A, Walsh, D, Bronstein, M, Darvasi, A, Lencz, T, Malhotra, A K, Rujescu, D, Giegling, I, Werge, T, Hansen, Thomas Folkmann, Ingason, A, Nöethen, M M, Rietschel, M, Cichon, S, Djurovic, S, Andreassen, O A, Cantor, R M, Ophoff, R, Corvin, A, Morris, D W, Gill, M, Pato, C N, Pato, M T, Macedo, A, Gurling, H M D, McQuillin, A, Pimm, J, Hultman, C, Lichtenstein, P, Sklar, P, Purcell, S M, Scolnick, E, St Clair, D, Blackwood, D H R, and Kendler, K S
Abstract: We conducted data-mining analyses using the Clinical Antipsychotic Trials of Intervention Effectiveness (CATIE) and molecular genetics of schizophrenia genome-wide association study supported by the genetic association information network (MGS-GAIN) schizophrenia data sets and performed bioinformatic prioritization for all the markers with P-values ¿0.05 in both data sets. In this process, we found that in the CMYA5 gene, there were two non-synonymous markers, rs3828611 and rs10043986, showing nominal significance in both the CATIE and MGS-GAIN samples. In a combined analysis of both the CATIE and MGS-GAIN samples, rs4704591 was identified as the most significant marker in the gene. Linkage disequilibrium analyses indicated that these markers were in low LD (3¿828¿611-rs10043986, r(2)=0.008; rs10043986-rs4704591, r(2)=0.204). In addition, CMYA5 was reported to be physically interacting with the DTNBP1 gene, a promising candidate for schizophrenia, suggesting that CMYA5 may be involved in the same biological pathway and process. On the basis of this information, we performed replication studies for these three single-nucleotide polymorphisms. The rs3828611 was found to have conflicting results in our Irish samples and was dropped out without further investigation. The other two markers were verified in 23 other independent data sets. In a meta-analysis of all 23 replication samples (family samples, 912 families with 4160 subjects; case-control samples, 11¿380 cases and 15¿021 controls), we found that both markers are significantly associated with schizophrenia (rs10043986, odds ratio (OR)=1.11, 95% confidence interval (CI)=1.04-1.18, P=8.2 × 10(-4) and rs4704591, OR=1.07, 95% CI=1.03-1.11, P=3.0 × 10(-4)). The results were also significant for the 22 Caucasian replication samples (rs10043986, OR=1.11, 95% CI=1.03-1.17, P=0.0026 and rs4704591, OR=1.07, 95% CI=1.02-1.11, P=0.0015). Furthermore, haplotype conditioned analyses indicated that the association signals obser
Published: 2011

35. Ellsworth Subglacial Lake, West Antarctica: A review of its history and recent field campaigns

Author: Siegert, Martin J, Kennicutt, Mahlon C., II, Bindschadler, Robert A., Ross, N., Siegert, M.J., Rivera, A., Bentley, M.J., Blake, David, Capper, Linda, Clarke, Rachel, Cockell, C.S., Corr, Hugh, Harris, W., Hill, Christopher, Hindmarsh, Richard, Hodgson, Dominic, King, Edward, Lamb, H., Maher, B., Makinson, Keith, Mowlem, M., Parnell, J., Pearce, David, Priscu, J., Smith, Andy, Tait, Andrew, Tranter, M., Wadham, J.L., Whalley, W.B., Woodward, J., Siegert, Martin J, Kennicutt, Mahlon C., II, Bindschadler, Robert A., Ross, N., Siegert, M.J., Rivera, A., Bentley, M.J., Blake, David, Capper, Linda, Clarke, Rachel, Cockell, C.S., Corr, Hugh, Harris, W., Hill, Christopher, Hindmarsh, Richard, Hodgson, Dominic, King, Edward, Lamb, H., Maher, B., Makinson, Keith, Mowlem, M., Parnell, J., Pearce, David, Priscu, J., Smith, Andy, Tait, Andrew, Tranter, M., Wadham, J.L., Whalley, W.B., and Woodward, J.
Abstract: Ellsworth Subglacial Lake, first observed in airborne radio echo sounding data acquired in 1978, is located within a long, deep subglacial trough within the Ellsworth Subglacial Highlands of West Antarctica. Geophysical surveys have characterized the lake, its subglacial catchment, and the thickness, structure, and flow of the overlying ice sheet. Covering 28.9 km2, Ellsworth Subglacial Lake is located below 2.9 to 3.3 km of ice at depths of −1361 to −1030 m. Seismic reflection data have shown the lake to be up to 156 m deep and underlain by unconsolidated sediments. Ice sheet flow over the lake is characterized by low velocities (<6 m yr−1), flow convergence, and longitudinal extension. The lake appears to be in steady state, although the hydrological balance may vary over glacial-interglacial cycles. Direct access, measurement, and sampling of Ellsworth Subglacial Lake are planned for the 2012/2013 Antarctic field season. The aims of this access experiment are to determine (1) the presence, character, and maintenance of microbial life in Antarctic subglacial lakes and (2) the Quaternary history of the West Antarctic ice sheet. Geophysical data have been used to define a preferred lake access site. The factors that make this location suitable for exploration are (1) a relatively thin overlying ice column (∼3.1 km), (2) a significant measured water depth (∼143 m), (3) >2 m of sediment below the lake floor, (4) water circulation modeling suggesting a melting ice-water interface, and (5) coring that can target the deepest point of the lake floor away from marginal, localized sediment sources.
Published: 2011

36. Probe technology for the direct measurement and sampling of Ellsworth Subglacial Lake

Author: Siegert, Martin J, Kennicutt, Mahlon C., II, Bindschadler, Robert A., Mowlem, M., Tsaloglou, M-N., Waugh, E., Floquet, C.F.A., Saw, K., Fowler, L., Brown, R., Pearce, D., Wyatt, J., Beaton, A.D., Brito, M.P., Hodgson, D., Griffiths, G., Bentley, M., Blake, D., Campbell, H., Capper, L., Clarke, R., Cockell, C., Corr, H., Harris, W., Hill, C., Hindmarsh, R., King, E., Lamb, H., Maher, B., Makinson, K., Parnell, J., Priscu, J., Rivera, A., Ross, N., Siegert, M.J., Smith, A., Tait, A., Tranter, M., Wadham, J., Whalley, B., Woodward, J., Siegert, Martin J, Kennicutt, Mahlon C., II, Bindschadler, Robert A., Mowlem, M., Tsaloglou, M-N., Waugh, E., Floquet, C.F.A., Saw, K., Fowler, L., Brown, R., Pearce, D., Wyatt, J., Beaton, A.D., Brito, M.P., Hodgson, D., Griffiths, G., Bentley, M., Blake, D., Campbell, H., Capper, L., Clarke, R., Cockell, C., Corr, H., Harris, W., Hill, C., Hindmarsh, R., King, E., Lamb, H., Maher, B., Makinson, K., Parnell, J., Priscu, J., Rivera, A., Ross, N., Siegert, M.J., Smith, A., Tait, A., Tranter, M., Wadham, J., Whalley, B., and Woodward, J.
Abstract: The direct measurement and sampling of Ellsworth Subglacial Lake is a multidisciplinary investigation of life in extreme environments and West Antarctic ice sheet history. The project's aims are (1) to determine whether, and in what form, microbial life exists in Antarctic subglacial lakes and (2) to reveal the post-Pliocene history of the West Antarctic Ice Sheet. A U.K. consortium has planned an extensive logistics and equipment development program that will deliver the necessary resources. This will include hot water drill technology for lake access through approximately 3.2 km of ice, a probe to make measurements with sensors and to collect water and sediment samples, and a percussion corer to acquire an ˜3–4 m sediment core. This chapter details the requirements and early stages of design and development of the probe system. This includes the instrumentation package, water samplers, and a mini gravity corer mounted on the front of the probe. Initial design concepts for supporting equipment required at the drill site to deploy and operate the probe are also described. A review of the literature describing relevant technology is presented. The project will implement environmental protection in line with principles set out by the Scientific Committee on Antarctic Research.
Published: 2011

37. GWA study data mining and independent replication identify cardiomyopathy-associated 5 (CMYA5) as a risk gene for schizophrenia

Author: Chen, X, Lee, G, Maher, B S, Fanous, A H, Chen, J, Zhao, Z, Guo, A, van den Oord, E, Sullivan, P F, Shi, J, Levinson, D F, Gejman, P V, Sanders, A, Duan, J, Owen, M J, Craddock, N J, O'Donovan, M C, Blackman, J, Lewis, D, Kirov, G K, Qin, W, Schwab, S, Wildenauer, D, Chowdari, K, Nimgaonkar, V, Straub, R E, Weinberger, D R, O'Neill, F A, Walsh, D, Bronstein, M, Darvasi, A, Lencz, T, Malhotra, A K, Rujescu, D, Giegling, I, Werge, T, Hansen, Thomas Folkmann, Ingason, A, Nöethen, M M, Rietschel, M, Cichon, S, Djurovic, S, Andreassen, O A, Cantor, R M, Ophoff, R, Corvin, A, Morris, D W, Gill, M, Pato, C N, Pato, M T, Macedo, A, Gurling, H M D, McQuillin, A, Pimm, J, Hultman, C, Lichtenstein, P, Sklar, P, Purcell, S M, Scolnick, E, St Clair, D, Blackwood, D H R, Kendler, K S, Chen, X, Lee, G, Maher, B S, Fanous, A H, Chen, J, Zhao, Z, Guo, A, van den Oord, E, Sullivan, P F, Shi, J, Levinson, D F, Gejman, P V, Sanders, A, Duan, J, Owen, M J, Craddock, N J, O'Donovan, M C, Blackman, J, Lewis, D, Kirov, G K, Qin, W, Schwab, S, Wildenauer, D, Chowdari, K, Nimgaonkar, V, Straub, R E, Weinberger, D R, O'Neill, F A, Walsh, D, Bronstein, M, Darvasi, A, Lencz, T, Malhotra, A K, Rujescu, D, Giegling, I, Werge, T, Hansen, Thomas Folkmann, Ingason, A, Nöethen, M M, Rietschel, M, Cichon, S, Djurovic, S, Andreassen, O A, Cantor, R M, Ophoff, R, Corvin, A, Morris, D W, Gill, M, Pato, C N, Pato, M T, Macedo, A, Gurling, H M D, McQuillin, A, Pimm, J, Hultman, C, Lichtenstein, P, Sklar, P, Purcell, S M, Scolnick, E, St Clair, D, Blackwood, D H R, and Kendler, K S
Abstract: We conducted data-mining analyses using the Clinical Antipsychotic Trials of Intervention Effectiveness (CATIE) and molecular genetics of schizophrenia genome-wide association study supported by the genetic association information network (MGS-GAIN) schizophrenia data sets and performed bioinformatic prioritization for all the markers with P-values ¿0.05 in both data sets. In this process, we found that in the CMYA5 gene, there were two non-synonymous markers, rs3828611 and rs10043986, showing nominal significance in both the CATIE and MGS-GAIN samples. In a combined analysis of both the CATIE and MGS-GAIN samples, rs4704591 was identified as the most significant marker in the gene. Linkage disequilibrium analyses indicated that these markers were in low LD (3¿828¿611-rs10043986, r(2)=0.008; rs10043986-rs4704591, r(2)=0.204). In addition, CMYA5 was reported to be physically interacting with the DTNBP1 gene, a promising candidate for schizophrenia, suggesting that CMYA5 may be involved in the same biological pathway and process. On the basis of this information, we performed replication studies for these three single-nucleotide polymorphisms. The rs3828611 was found to have conflicting results in our Irish samples and was dropped out without further investigation. The other two markers were verified in 23 other independent data sets. In a meta-analysis of all 23 replication samples (family samples, 912 families with 4160 subjects; case-control samples, 11¿380 cases and 15¿021 controls), we found that both markers are significantly associated with schizophrenia (rs10043986, odds ratio (OR)=1.11, 95% confidence interval (CI)=1.04-1.18, P=8.2 × 10(-4) and rs4704591, OR=1.07, 95% CI=1.03-1.11, P=3.0 × 10(-4)). The results were also significant for the 22 Caucasian replication samples (rs10043986, OR=1.11, 95% CI=1.03-1.17, P=0.0026 and rs4704591, OR=1.07, 95% CI=1.02-1.11, P=0.0015). Furthermore, haplotype conditioned analyses indicated that the association signals obser
Published: 2011

38. GWA study data mining and independent replication identify cardiomyopathy-associated 5 (CMYA5) as a risk gene for schizophrenia

Author: Chen, Xiangning, Lee, G, Maher, B S, Fanous, A H, Chen, J, Zhao, Zhongming, Guo, A, Van Den Oord, E, Sullivan, P F, Schwab, Sibylle G, Chen, Xiangning, Lee, G, Maher, B S, Fanous, A H, Chen, J, Zhao, Zhongming, Guo, A, Van Den Oord, E, Sullivan, P F, and Schwab, Sibylle G
Abstract: We conducted data-mining analyses using the Clinical Antipsychotic Trials of Intervention Effectiveness (CATIE) and molecular genetics of schizophrenia genome-wide association study supported by the genetic association information network (MGS-GAIN) schizophrenia data sets and performed bioinformatic prioritization for all the markers with P-values less than or equal to0.05 in both data sets. In this process, we found that in the CMYA5 gene, there were two non-synonymous markers, rs3828611 and rs10043986, showing nominal significance in both the CATIE and MGS-GAIN samples. In a combined analysis of both the CATIE and MGS-GAIN samples, rs4704591 was identified as the most significant marker in the gene. Linkage disequilibrium analyses indicated that these markers were in low LD (3 828 611-rs10043986, r2=0.008; rs10043986-rs4704591, r2=0.204). In addition, CMYA5 was reported to be physically interacting with the DTNBP1 gene, a promising candidate for schizophrenia, suggesting that CMYA5 may be involved in the same biological pathway and process. On the basis of this information, we performed replication studies for these three single-nucleotide polymorphisms. The rs3828611 was found to have conflicting results in our Irish samples and was dropped out without further investigation. The other two markers were verified in 23 other independent data sets. In a meta-analysis of all 23 replication samples (family samples, 912 families with 4160 subjects; case-control samples, 11 380 cases and 15 021 controls), we found that both markers are significantly associated with schizophrenia (rs10043986, odds ratio (OR)=1.11, 95% confidence interval (CI)=1.04-1.18, P=8.2 x 10−4 and rs4704591, OR=1.07, 95% CI=1.03-1.11, P=3.0 x 10−4). The results were also significant for the 22 Caucasian replication samples (rs10043986, OR=1.11, 95% CI=1.03-1.17, P=0.0026 and rs4704591, OR=1.07, 95% CI=1.02-1.11, P=0.0015). Furthermore, haplotype conditioned analyses indicated that the association s
Published: 2011

39. GWA study data mining and independent replication identify cardiomyopathy-associated 5 (CMYA5) as a risk gene for schizophrenia

Author: Chen, Xiangning, Lee, G, Maher, B S, Fanous, A H, Chen, J, Zhao, Zhongming, Guo, A, Van Den Oord, E, Sullivan, P F, Schwab, Sibylle G, Chen, Xiangning, Lee, G, Maher, B S, Fanous, A H, Chen, J, Zhao, Zhongming, Guo, A, Van Den Oord, E, Sullivan, P F, and Schwab, Sibylle G
Abstract: We conducted data-mining analyses using the Clinical Antipsychotic Trials of Intervention Effectiveness (CATIE) and molecular genetics of schizophrenia genome-wide association study supported by the genetic association information network (MGS-GAIN) schizophrenia data sets and performed bioinformatic prioritization for all the markers with P-values less than or equal to0.05 in both data sets. In this process, we found that in the CMYA5 gene, there were two non-synonymous markers, rs3828611 and rs10043986, showing nominal significance in both the CATIE and MGS-GAIN samples. In a combined analysis of both the CATIE and MGS-GAIN samples, rs4704591 was identified as the most significant marker in the gene. Linkage disequilibrium analyses indicated that these markers were in low LD (3 828 611-rs10043986, r2=0.008; rs10043986-rs4704591, r2=0.204). In addition, CMYA5 was reported to be physically interacting with the DTNBP1 gene, a promising candidate for schizophrenia, suggesting that CMYA5 may be involved in the same biological pathway and process. On the basis of this information, we performed replication studies for these three single-nucleotide polymorphisms. The rs3828611 was found to have conflicting results in our Irish samples and was dropped out without further investigation. The other two markers were verified in 23 other independent data sets. In a meta-analysis of all 23 replication samples (family samples, 912 families with 4160 subjects; case-control samples, 11 380 cases and 15 021 controls), we found that both markers are significantly associated with schizophrenia (rs10043986, odds ratio (OR)=1.11, 95% confidence interval (CI)=1.04-1.18, P=8.2 x 10−4 and rs4704591, OR=1.07, 95% CI=1.03-1.11, P=3.0 x 10−4). The results were also significant for the 22 Caucasian replication samples (rs10043986, OR=1.11, 95% CI=1.03-1.17, P=0.0026 and rs4704591, OR=1.07, 95% CI=1.02-1.11, P=0.0015). Furthermore, haplotype conditioned analyses indicated that the association s
Published: 2011

40. Age assignment of a diatomaceous ooze deposited in the western Amundsen Sea Embayment after the Last Glacial Maximum

Author: Hillenbrand, C.-D., Smith, J. A., Kuhn, Gerhard, Esper, Oliver, Gersonde, Rainer, Larter, R. D., Maher, B., Moreton, S. G., Shimmield, T. M., Korte, M., Hillenbrand, C.-D., Smith, J. A., Kuhn, Gerhard, Esper, Oliver, Gersonde, Rainer, Larter, R. D., Maher, B., Moreton, S. G., Shimmield, T. M., and Korte, M.
Published: 2010

41. Age assignment of a diatomaceous ooze deposited in the western Amundsen Sea Embayment after the Last Glacial Maximum

Author: Hillenbrand, C.-D., Smith, J. A., Kuhn, Gerhard, Esper, Oliver, Gersonde, Rainer, Larter, R. D., Maher, B., Moreton, S. G., Shimmield, T. M., Korte, M., Hillenbrand, C.-D., Smith, J. A., Kuhn, Gerhard, Esper, Oliver, Gersonde, Rainer, Larter, R. D., Maher, B., Moreton, S. G., Shimmield, T. M., and Korte, M.
Published: 2010

42. A common variant of the latrophilin 3 gene, LPHN3, confers susceptibility to ADHD and predicts effectiveness of stimulant medication

Author: Arcos-Burgos, M, Jain, M, Acosta, M T, Shively, S, Stanescu, H, Wallis, D, Domené, S, Vélez, J I, Karkera, J D, Balog, J, Berg, K, Kleta, R, Gahl, W A, Roessler, E, Long, R, Lie, J, Pineda, D, Londoño, A C, Palacio, J D, Arbelaez, A, Lopera, F, Elia, J, Hakonarson, H, Johansson, S, Knappskog, P M, Haavik, J, Ribases, M, Cormand, B, Bayes, M, Casas, M, Ramos-Quiroga, J A, Hervas, A, Maher, B S, Faraone, S V, Seitz, C, Freitag, C M, Palmason, H, Meyer, J, Romanos, M, Walitza, S; https://orcid.org/0000-0002-8161-8683, Hemminger, U, Warnke, A, Romanos, J, Renner, T, Jacob, C, Lesch, K P, Swanson, J, Vortmeyer, A, Bailey-Wilson, J E, Castellanos, F X, Muenke, M, Arcos-Burgos, M, Jain, M, Acosta, M T, Shively, S, Stanescu, H, Wallis, D, Domené, S, Vélez, J I, Karkera, J D, Balog, J, Berg, K, Kleta, R, Gahl, W A, Roessler, E, Long, R, Lie, J, Pineda, D, Londoño, A C, Palacio, J D, Arbelaez, A, Lopera, F, Elia, J, Hakonarson, H, Johansson, S, Knappskog, P M, Haavik, J, Ribases, M, Cormand, B, Bayes, M, Casas, M, Ramos-Quiroga, J A, Hervas, A, Maher, B S, Faraone, S V, Seitz, C, Freitag, C M, Palmason, H, Meyer, J, Romanos, M, Walitza, S; https://orcid.org/0000-0002-8161-8683, Hemminger, U, Warnke, A, Romanos, J, Renner, T, Jacob, C, Lesch, K P, Swanson, J, Vortmeyer, A, Bailey-Wilson, J E, Castellanos, F X, and Muenke, M
Abstract: Attention-Deficit/Hyperactivity Disorder (ADHD) has a very high heritability (0.8), suggesting that about 80% of phenotypic variance is due to genetic factors. We used the integration of statistical and functional approaches to discover a novel gene that contributes to ADHD. For our statistical approach, we started with a linkage study based on large multigenerational families in a population isolate, followed by fine mapping of targeted regions using a family-based design. Family- and population-based association studies in five samples from disparate regions of the world were used for replication. Brain imaging studies were performed to evaluate gene function. The linkage study discovered a genome region harbored in the Latrophilin 3 gene (LPHN3). In the world-wide samples (total n=6360, with 2627 ADHD cases and 2531 controls) statistical association of LPHN3 and ADHD was confirmed. Functional studies revealed that LPHN3 variants are expressed in key brain regions related to attention and activity, affect metabolism in neural circuits implicated in ADHD, and are associated with response to stimulant medication. Linkage and replicated association of ADHD with a novel non-candidate gene (LPHN3) provide new insights into the genetics, neurobiology, and treatment of ADHD.
Published: 2010

43. An evaluation of the TRIPS computer system

Author: Gebhart, M, Maher, B, Koons, C, Diammond, J, Grattz, P, Marino, MD, Ranganathan, N, Behnam, R, Smith, A, Burril, J, Keckler, S, Burger, D, McKinley, K, Gebhart, M, Maher, B, Koons, C, Diammond, J, Grattz, P, Marino, MD, Ranganathan, N, Behnam, R, Smith, A, Burril, J, Keckler, S, Burger, D, and McKinley, K
Abstract: The TRIPS system employs a new instruction set architecture (ISA) called Explicit Data Graph Execution (EDGE) that renegotiates the boundary between hardware and software to expose and exploit concurrency. EDGE ISAs use a block-atomic execution model in which blocks are composed of dataflow instructions. The goal of the TRIPS design is to mine concurrency for high performance while tolerating emerging technology scaling challenges, such as increasing wire delays and power consumption. This paper evaluates how well TRIPS meets this goal through a detailed ISA and performance analysis. We compare performance, using cycles counts, to commercial processors. On SPEC CPU2000, the Intel Core 2 outperforms compiled TRIPS code in most cases, although TRIPS matches a Pentium 4. On simple benchmarks, compiled TRIPS code outperforms the Core 2 by 10% and hand-optimized TRIPS code outperforms it by factor of 3. Compared to conventional ISAs, the block-atomic model provides a larger instruction window, increases concurrency at a cost of more instructions executed, and replaces register and memory accesses with more efficient direct instruction-to-instruction communication. Our analysis suggests ISA, microarchitecture, and compiler enhancements for addressing weaknesses in TRIPS and indicates that EDGE architectures have the potential to exploit greater concurrency in future technologies.
Published: 2009

44. Genome scan, fine-mapping, and candidate gene analysis of non-syndromic cleft lip with or without cleft palate reveals phenotype-specific differences in linkage and association results

Author: Marazita, Mary L., Lidral, Andrew C., Murray, Jeffrey C., Field, L. Leigh, Maher, B. S., Goldstein McHenry, T., Cooper, Margaret E., Govil, M., Daack-Hirsch, Sandy, Riley, B., Arcos-Burgos, Mauricio, Marazita, Mary L., Lidral, Andrew C., Murray, Jeffrey C., Field, L. Leigh, Maher, B. S., Goldstein McHenry, T., Cooper, Margaret E., Govil, M., Daack-Hirsch, Sandy, Riley, B., and Arcos-Burgos, Mauricio
Abstract: Objectives: Non-syndromic orofacial clefts, i.e. cleft lip (CL) and cleft palate (CP), are among the most common birth defects. The goal of this study was to identify genomic regions and genes for CL with or without CP (CL/P). Methods: We performed linkage analyses of a 10 cM genome scan in 820 multiplex CL/P families (6,565 individuals). Significant linkage results were followed by association analyses of 1,476 SNPs in candidate genes and regions, utilizing a weighted false discovery rate (wFDR) approach to control for multiple testing and incorporate the genome scan results. Results: Significant (multipoint HLOD ≥3.2) or genome-wide-significant (HLOD ≥4.02) linkage results were found for regions 1q32, 2p13, 3q27-28, 9q21, 12p11, 14q21-24 and 16q24. SNPs in IRF6 (1q32) and in or near FOXE1 (9q21) reached formal genome-wide wFDR-adjusted significance. Further, results were phenotype dependent in that the IRF6 region results were most significant for families in which affected individuals have CL alone, and the FOXE1 region results were most significant in families in which some or all of the affected individuals have CL with CP. Conclusions: These results highlight the importance of careful phenotypic delineation in large samples of families for genetic analyses of complex, heterogeneous traits such as CL/P.
Published: 2009

45. An evaluation of the TRIPS computer system

Author: Gebhart, M, Maher, B, Koons, C, Diammond, J, Grattz, P, Marino, MD, Ranganathan, N, Behnam, R, Smith, A, Burril, J, Keckler, S, Burger, D, McKinley, K, Gebhart, M, Maher, B, Koons, C, Diammond, J, Grattz, P, Marino, MD, Ranganathan, N, Behnam, R, Smith, A, Burril, J, Keckler, S, Burger, D, and McKinley, K
Abstract: The TRIPS system employs a new instruction set architecture (ISA) called Explicit Data Graph Execution (EDGE) that renegotiates the boundary between hardware and software to expose and exploit concurrency. EDGE ISAs use a block-atomic execution model in which blocks are composed of dataflow instructions. The goal of the TRIPS design is to mine concurrency for high performance while tolerating emerging technology scaling challenges, such as increasing wire delays and power consumption. This paper evaluates how well TRIPS meets this goal through a detailed ISA and performance analysis. We compare performance, using cycles counts, to commercial processors. On SPEC CPU2000, the Intel Core 2 outperforms compiled TRIPS code in most cases, although TRIPS matches a Pentium 4. On simple benchmarks, compiled TRIPS code outperforms the Core 2 by 10% and hand-optimized TRIPS code outperforms it by factor of 3. Compared to conventional ISAs, the block-atomic model provides a larger instruction window, increases concurrency at a cost of more instructions executed, and replaces register and memory accesses with more efficient direct instruction-to-instruction communication. Our analysis suggests ISA, microarchitecture, and compiler enhancements for addressing weaknesses in TRIPS and indicates that EDGE architectures have the potential to exploit greater concurrency in future technologies.
Published: 2009

46. Analysis and interpretation of Holocene sedimentary sequences in the Humber estuary

Author: Ridgway, J., Andrews, J. E., Ellis, S., Horton, B. P., Innes, J. B., Knox, R. W.O.B., McArthur, J. J., Maher, B. A., Metcalfe, S. E., Mitlehner, A., Parkes, A., Rees, J. G., Samways, G. M., Shennan, I., Ridgway, J., Andrews, J. E., Ellis, S., Horton, B. P., Innes, J. B., Knox, R. W.O.B., McArthur, J. J., Maher, B. A., Metcalfe, S. E., Mitlehner, A., Parkes, A., Rees, J. G., Samways, G. M., and Shennan, I.
Abstract: The interpretation of the Holocene evolution of the Humber Estuary has been made possible only through integrated multidisciplinary studies involving inter alia: drilling, to obtain sedimentary records of the Holocene Estuary fill; multi-element, carbon-nitrogen-sulphur and stable carbon isotope geochemistry; heavy and clay mineralogy; palaeomagnetism; radio-carbon dating; and pollen, diatom and foraminiferal studies. Eight chemostratigraphic suites and 14 palaeo-environments have been recognized. Sediment types, environments of deposition and provenance change in response to rising sea-level, showing a range from freshwater fluvial deposition of locally derived terrestrial sediment to intertidal and subtidal deposition of sediments from marine sources. The methods used are illustrated with reference to sediment cores from inner and outer estuary locations. The results show that Holocene environmental characterization is most secure when a number of different, but complementary, techniques are used. The integration of radiocarbon dates with palaeomagnetic and geochemical data improves the understanding of the presence and significance of time breaks, which is crucial to constraining sedimentation rates and material budgets.
Published: 2000

47. Cold stage formation of calcrete nodules in the Chinese Loess Plateau: evidence from U-series dating and stable isotope analysis. .

Author: Rowe, P. J., Maher, B. A., Rowe, P. J., and Maher, B. A.
Abstract: This pilot study shows that some calcrete nodules from the base of palaeosols in the Chinese loess sequences can be dated by U-series isochron methods. The ages obtained suggest that the nodules did not form during interglacial climate stages; rather, they formed either during interglacial/glacial transitions or glacial climate stages. Thus, the nodules appear not to have formed contemporaneously with the soils beneath which they immediately lie but significantly post-date them. Post-pedogenic injection of carbonate into stratigraphically lower horizons is therefore identified. This finding contradicts previous assumptions regarding the timing of nodule formation. Carbon and oxygen isotope analyses of the nodules identify isotopic compositions which independently suggest that climatic conditions cooler and possibly drier than at present prevailed at the time of nodule formation.
Published: 2000

48. Origin of soil magnetite

Author: Maher, B. A., Taylor, R. M., Maher, B. A., and Taylor, R. M.
Published: 1989

49. Origin of soil magnetite

Author: Maher, B. A., Taylor, R. M., Maher, B. A., and Taylor, R. M.
Published: 1989

50. DUPLEXER FOR SIDE-LOOKING RADAR.

Author: LITTON PRECISION PRODUCTS INC MORRIS PLAINS N J AIRTRON DIV, King,M., Maher,B., LITTON PRECISION PRODUCTS INC MORRIS PLAINS N J AIRTRON DIV, King,M., and Maher,B.
Abstract: The report describes the research and development directed towards advancing the state-of-the-art in the field of microwave components intended for application in a side-looking radar. A three-port E-plane junction circulator was developed capable of operating at a peak power level of 500 kw and an average power of 650 w. Single crystal yttrium iron garnet was employed as a power sensitive element in a completely solid state limiting device capable of operating at a peak power input of 50 kw. (Author)
Published: 1968

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