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213 results on '"Kučinskas V"'

1. A novel intronic splice site tafazzin gene mutation detected prenatally in a family with Barth syndrome

Author

Bakšienė M, Benušienė E, Morkūnienė A, Ambrozaitytė L, Utkus A, and Kučinskas V

Subjects
barth syndrome (bths), cardiomyopathy, neutropenia, 3-methylglutaconin aciduria, tafazzin (taz) gene, Genetics, QH426-470
Abstract

Barth syndrome (BTHS) is a rare X-linked disease characterized by dilated cardiomyopathy, proximal skeletal myopathy and cyclic neutropenia. It is caused by various mutations in the tafazzin (TAZ) gene located on Xq28 that results in remodeling of cardiolipin and abnormalities in mitochondria stability and energy production. Here we report on a novel c.285-1G>C splice site mutation in intron 3 of the TAZ gene that was detected prenatally.

Published
2016
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3. RTN4 AND FBXL17 GENES ARE ASSOCIATED WITH CORONARY HEART DISEASE IN GENOME-WIDE ASSOCIATION ANALYSIS OF LITHUANIAN FAMILIES

Author

Domarkienė I., Pranculis A., Germanas Š., Jakaitienė A., Vitkus D., Dženkevičiūtė V., Kučinskienė Za., and Kučinskas V.

Subjects
atherosclerosis, coronary heart disease (chd), genome-wide association study(ies) (gwas), transmission disequilibrium test (tdt), Genetics, QH426-470
Abstract

Coronary heart disease (CHD) is a complex and heterogeneous cardiovascular disease. There are many genome-wide association studies (GWAS) performed worldwide to extract the causative genetic factors. Moreover, each population may have some exceptional genetic characteristic. Thus, the background of our study is from the previous Lithuanian studies (the LiVicordia Project), which demonstrated the differences of the atherosclerosis process between Lithuanian and Swedish male individuals. In this study we performed GWAS of 32 families of Lithuanian origin in search of significant candidate genetic markers [single nucleotide polymorphisms (SNPs)] of CHD in this population. After careful clinical and biochemical phenotype evaluation, the ~770K SNPs genotyping (Illumina HumanOmniExpress- 12 v1.0 array) and familial GWAS analyses were performed. Twelve SNPs were found to be significantly associated with the CHD phenotype (p value 0.65). The odds ratio (OR) values were calculated. Two SNPs (rs17046570 in the RTN4 gene and rs11743737 in the FBXL17 gene) stood out and may prove to be important genetic factors for CHD risk. Our results correspond with the findings in other studies, and these two SNPs may be the susceptibility loci for CHD

Published
2013
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17. Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction

Author

Hoed, J. den, Boer, E. de, Voisin, N., Dingemans, A.J.M., Guex, N., Wiel, L.J.M. van de, Nellaker, C., Amudhavalli, S.M., Banka, S., Bena, F.S., Ben-Zeev, B., Bonagura, V.R., Bruel, A.L., Brunet, T., Brunner, H.G., Chew, H.B., Chrast, J., Cimbalistienė, L., Coon, H., Délot, E.C., Démurger, F., Denommé-Pichon, A.S., Depienne, C., Donnai, D., Dyment, D.A., Elpeleg, O., Faivre, L., Gilissen, C.F., Granger, L., Haber, B., Hachiya, Y., Abedi, Y.H., Hanebeck, J., Hehir-Kwa, J.Y., Horist, B., Itai, T., Jackson, A., Jewell, R., Jones, K.L., Joss, S., Kashii, H., Kato, M., Kattentidt-Mouravieva, A.A., Kok, F., Kotzaeridou, U., Krishnamurthy, V., Kučinskas, V., Kuechler, A., Lavillaureix, A., Liu, P, Manwaring, L., Matsumoto, N., Mazel, B., McWalter, K., Meiner, V., Mikati, M.A., Miyatake, S., Mizuguchi, T., Moey, L.H., Mohammed, S, Mor-Shaked, H., Mountford, H., Newbury-Ecob, R., Odent, S., Orec, L., Osmond, M., Palculict, T.B., Parker, M., Petersen, A.K., Pfundt, R.P., Preikšaitienė, E., Radtke, K., Ranza, E., Rosenfeld, J.A., Santiago-Sim, T., Schwager, C., Sinnema, M., Snijders Blok, L., Spillmann, R.C., Stegmann, A.P.A., Thiffault, I., Tran, L., Vaknin-Dembinsky, A., Vedovato-Dos-Santos, J.H., Schrier Vergano, S.A., Vilain, E., Vitobello, A., Wagner, M., Waheeb, A., Willing, M., Zuccarelli, B., Kini, U., Newbury, D.F., Kleefstra, T., Reymond, A., Fisher, S.E., Vissers, L.E.L.M., Hoed, J. den, Boer, E. de, Voisin, N., Dingemans, A.J.M., Guex, N., Wiel, L.J.M. van de, Nellaker, C., Amudhavalli, S.M., Banka, S., Bena, F.S., Ben-Zeev, B., Bonagura, V.R., Bruel, A.L., Brunet, T., Brunner, H.G., Chew, H.B., Chrast, J., Cimbalistienė, L., Coon, H., Délot, E.C., Démurger, F., Denommé-Pichon, A.S., Depienne, C., Donnai, D., Dyment, D.A., Elpeleg, O., Faivre, L., Gilissen, C.F., Granger, L., Haber, B., Hachiya, Y., Abedi, Y.H., Hanebeck, J., Hehir-Kwa, J.Y., Horist, B., Itai, T., Jackson, A., Jewell, R., Jones, K.L., Joss, S., Kashii, H., Kato, M., Kattentidt-Mouravieva, A.A., Kok, F., Kotzaeridou, U., Krishnamurthy, V., Kučinskas, V., Kuechler, A., Lavillaureix, A., Liu, P, Manwaring, L., Matsumoto, N., Mazel, B., McWalter, K., Meiner, V., Mikati, M.A., Miyatake, S., Mizuguchi, T., Moey, L.H., Mohammed, S, Mor-Shaked, H., Mountford, H., Newbury-Ecob, R., Odent, S., Orec, L., Osmond, M., Palculict, T.B., Parker, M., Petersen, A.K., Pfundt, R.P., Preikšaitienė, E., Radtke, K., Ranza, E., Rosenfeld, J.A., Santiago-Sim, T., Schwager, C., Sinnema, M., Snijders Blok, L., Spillmann, R.C., Stegmann, A.P.A., Thiffault, I., Tran, L., Vaknin-Dembinsky, A., Vedovato-Dos-Santos, J.H., Schrier Vergano, S.A., Vilain, E., Vitobello, A., Wagner, M., Waheeb, A., Willing, M., Zuccarelli, B., Kini, U., Newbury, D.F., Kleefstra, T., Reymond, A., Fisher, S.E., and Vissers, L.E.L.M.

Abstract

Contains fulltext : 231687.pdf (Publisher’s version ) (Closed access), Whereas large-scale statistical analyses can robustly identify disease-gene relationships, they do not accurately capture genotype-phenotype correlations or disease mechanisms. We use multiple lines of independent evidence to show that different variant types in a single gene, SATB1, cause clinically overlapping but distinct neurodevelopmental disorders. Clinical evaluation of 42 individuals carrying SATB1 variants identified overt genotype-phenotype relationships, associated with different pathophysiological mechanisms, established by functional assays. Missense variants in the CUT1 and CUT2 DNA-binding domains result in stronger chromatin binding, increased transcriptional repression, and a severe phenotype. In contrast, variants predicted to result in haploinsufficiency are associated with a milder clinical presentation. A similarly mild phenotype is observed for individuals with premature protein truncating variants that escape nonsense-mediated decay, which are transcriptionally active but mislocalized in the cell. Our results suggest that in-depth mutation-specific genotype-phenotype studies are essential to capture full disease complexity and to explain phenotypic variability.

Published
2021

18. Characterization of a novel 21-kb deletion, CFTRdele2,3(21 kb), in the CFTR gene: a cystic fibrosis mutation of Slavic origin common in Central and East Europe

Author

Dörk, T., Macek Jr, M., Mekus, F., Tümmler, B., Tzountzouris, J., Casals, T., Krebsová, A., Koudová, M., Sakmaryová, I., Macek Sr, M., Vávrová, V., Zemková, D., Ginter, E., Petrova, N.V., Ivaschenko, T., Baranov, V., Witt, M., Pogorzelski, A., Bal, J., Zékanowsky, C., Wagner, K., Stuhrmann, M., Bauer, I., Seydewitz, H.H., Neumann, T., Jakubiczka, S., Kraus, C., Thamm, B., Nechiporenko, M., Livshits, L., Mosse, N., Tsukerman, G., Kadási, L., Ravnik-Glavač, M., Glavač, D., Komel, R., Vouk, K., Kučinskas, V., Krumina, A., Teder, M., Kocheva, S., Efremov, G.D., Onay, T., Kirdar, B., Malone, G., Schwarz, M., Zhou, Z., Friedman, K.J., Carles, S., Claustres, M., Bozon, D., Verlingue, C., Férec, C., Tzetis, M., Kanavakis, E., Cuppens, H., Bombieri, C., Pignatti, P.F., Sangiuolo, F., Jordanova, A., Kusic, J., Radojkovič, D., Sertić, J., Richter, D., Stavljenić Rukavina, A., Bjorck, E., Strandvik, B., Cardoso, H., Montgomery, M., Nakielna, B., Hughes, D., Estivill, X., Aznarez, I., Tullis, E., Tsui, L.-C., and Zielenski, J.

Published
2000
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19. Recent Common Origin, Reduced Population Size, and Marked Admixture Have Shaped European Roma Genomes

Author

Bianco, E., Laval, G., Font-Porterias, N., García-Fernández, C., Dobon, B., Sabido-Vera, R., Stefanovska, E.S, Kučinskas, V., Makukh, H., Pamjav, H., Quintana-Murci, L., Netea, M.G., Bertranpetit, J., Calafell, F., Comas, D., Bianco, E., Laval, G., Font-Porterias, N., García-Fernández, C., Dobon, B., Sabido-Vera, R., Stefanovska, E.S, Kučinskas, V., Makukh, H., Pamjav, H., Quintana-Murci, L., Netea, M.G., Bertranpetit, J., Calafell, F., and Comas, D.

Abstract

Contains fulltext : 229486.pdf (Publisher’s version ) (Open Access), The Roma Diaspora-traditionally known as Gypsies-remains among the least explored population migratory events in historical times. It involved the migration of Roma ancestors out-of-India through the plateaus of Western Asia ultimately reaching Europe. The demographic effects of the Diaspora-bottlenecks, endogamy, and gene flow-might have left marked molecular traces in the Roma genomes. Here, we analyze the whole-genome sequence of 46 Roma individuals pertaining to four migrant groups in six European countries. Our analyses revealed a strong, early founder effect followed by a drastic reduction of ∼44% in effective population size. The Roma common ancestors split from the Punjabi population, from Northwest India, some generations before the Diaspora started, <2,000 years ago. The initial bottleneck and subsequent endogamy are revealed by the occurrence of extensive runs of homozygosity and identity-by-descent segments in all Roma populations. Furthermore, we provide evidence of gene flow from Armenian and Anatolian groups in present-day Roma, although the primary contribution to Roma gene pool comes from non-Roma Europeans, which accounts for >50% of their genomes. The linguistic and historical differentiation of Roma in migrant groups is confirmed by the differential proportion, but not a differential source, of European admixture in the Roma groups, which shows a westward cline. In the present study, we found that despite the strong admixture Roma had in their diaspora, the signature of the initial bottleneck and the subsequent endogamy is still present in Roma genomes.

Published
2020

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

Author

Anttila, V. Bulik-Sullivan, B. Finucane, H.K. Walters, R.K. Bras, J. Duncan, L. Escott-Price, V. Falcone, G.J. Gormley, P. Malik, R. Patsopoulos, N.A. Ripke, S. Wei, Z. Yu, D. Lee, P.H. Turley, P. Grenier-Boley, B. Chouraki, V. Kamatani, Y. Berr, C. Letenneur, L. Hannequin, D. Amouyel, P. Boland, A. Deleuze, J.-F. Duron, E. Vardarajan, B.N. Reitz, C. Goate, A.M. Huentelman, M.J. Ilyas Kamboh, M. Larson, E.B. Rogaeva, E. George-Hyslop, P.S. Hakonarson, H. Kukull, W.A. Farrer, L.A. Barnes, L.L. Beach, T.G. Yesim Demirci, F. Head, E. Hulette, C.M. Jicha, G.A. Kauwe, J.S.K. Kaye, J.A. Leverenz, J.B. Levey, A.I. Lieberman, A.P. Pankratz, V.S. Poon, W.W. Quinn, J.F. Saykin, A.J. Schneider, L.S. Smith, A.G. Sonnen, J.A. Stern, R.A. Van Deerlin, V.M. Van Eldik, L.J. Harold, D. Russo, G. Rubinsztein, D.C. Bayer, A. Tsolaki, M. Proitsi, P. Fox, N.C. Hampel, H. Owen, M.J. Mead, S. Passmore, P. Morgan, K. Nöthen, M.M. Rossor, M. Lupton, M.K. Hoffmann, P. Kornhuber, J. Lawlor, B. McQuillin, A. Al-Chalabi, A. Bis, J.C. Ruiz, A. Boada, M. Seshadri, S. Beiser, A. Rice, K. Van Der Lee, S.J. De Jager, P.L. Geschwind, D.H. Riemenschneider, M. Riedel-Heller, S. Rotter, J.I. Ransmayr, G. Hyman, B.T. Cruchaga, C. Alegret, M. Winsvold, B. Palta, P. Farh, K.-H. Cuenca-Leon, E. Furlotte, N. Kurth, T. Ligthart, L. Terwindt, G.M. Freilinger, T. Ran, C. Gordon, S.D. Borck, G. Adams, H.H.H. Lehtimäki, T. Wedenoja, J. Buring, J.E. Schürks, M. Hrafnsdottir, M. Hottenga, J.-J. Penninx, B. Artto, V. Kaunisto, M. Vepsäläinen, S. Martin, N.G. Montgomery, G.W. Kurki, M.I. 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.D. Belin, A.C. Van Den Maagdenberg, A.M.J.M. Zwart, J.-A. Boomsma, D. Eriksson, N. Olesen, J. Chasman, D.I. Nyholt, D.R. Avbersek, A. Baum, L. Berkovic, S. Bradfield, J. Buono, R. Catarino, C.B. Cossette, P. De Jonghe, P. Depondt, C. Dlugos, D. Ferraro, T.N. French, J. Hjalgrim, H. Jamnadas-Khoda, J. Kälviäinen, R. Kunz, W.S. Lerche, H. Leu, C. Lindhout, D. Lo, W. Lowenstein, D. McCormack, M. Møller, R.S. Molloy, A. Ng, P.-W. Oliver, K. Privitera, M. Radtke, R. Ruppert, A.-K. Sander, T. Schachter, S. Schankin, C. Scheffer, I. Schoch, S. Sisodiya, S.M. Smith, P. Sperling, M. Striano, P. Surges, R. Neil Thomas, G. Visscher, F. Whelan, C.D. Zara, F. Heinzen, E.L. Marson, A. Becker, F. Stroink, H. Zimprich, F. Gasser, T. Gibbs, R. Heutink, P. Martinez, M. Morris, H.R. Sharma, M. Ryten, M. Mok, K.Y. Pulit, S. Bevan, S. Holliday, E. Attia, J. Battey, T. Boncoraglio, G. Thijs, V. Chen, W.-M. Mitchell, B. Rothwell, P. Sharma, P. Sudlow, C. Vicente, A. Markus, H. Kourkoulis, C. Pera, J. Raffeld, M. Silliman, S. Perica, V.B. Thornton, L.M. Huckins, L.M. William Rayner, N. Lewis, C.M. Gratacos, M. Rybakowski, F. Keski-Rahkonen, A. Raevuori, A. Hudson, J.I. Reichborn-Kjennerud, T. Monteleone, P. Karwautz, A. Mannik, K. Baker, J.H. O'Toole, J.K. Trace, S.E. Davis, O.S.P. Helder, S.G. Ehrlich, S. Herpertz-Dahlmann, B. Danner, U.N. Van Elburg, A.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.M. Ripatti, S. Andreassen, O.A. Espeseth, T. Lundervold, A.J. Steen, V.M. Pinto, D. Scherer, S.W. Aschauer, H. Schosser, A. Alfredsson, L. Padyukov, L. Halmi, K.A. Mitchell, J. Strober, M. Bergen, A.W. Kaye, W. Szatkiewicz, J.P. Cormand, B. Ramos-Quiroga, J.A. Sánchez-Mora, C. Ribasés, M. Casas, M. Hervas, A. Arranz, M.J. Haavik, J. Zayats, T. Johansson, S. Williams, N. Dempfle, A. Rothenberger, A. Kuntsi, J. Oades, R.D. Banaschewski, T. Franke, B. Buitelaar, J.K. Vasquez, A.A. Doyle, A.E. Reif, A. Lesch, K.-P. Freitag, C. Rivero, O. Palmason, H. Romanos, M. Langley, K. Rietschel, M. Witt, S.H. Dalsgaard, S. Børglum, A.D. Waldman, I. Wilmot, B. Molly, N. Bau, C.H.D. Crosbie, J. Schachar, R. Loo, S.K. McGough, J.J. Grevet, E.H. Medland, S.E. Robinson, E. Weiss, L.A. 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.M. 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.G. Thompson, R.C. Strohmaier, J. Matthews, K. Melle, I. Morris, D. Blackwood, D. McIntosh, A. Bergen, S.E. Schalling, M. Jamain, S. Maaser, A. Fischer, S.B. Reinbold, C.S. Fullerton, J.M. Guzman-Parra, J. Mayoral, F. Schofield, P.R. Cichon, S. Mühleisen, T.W. Degenhardt, F. Schumacher, J. Bauer, M. Mitchell, P.B. Gershon, E.S. Rice, J. Potash, J.B. Zandi, P.P. Craddock, N. Nicol Ferrier, I. Alda, M. Rouleau, G.A. Turecki, G. Ophoff, R. Pato, C. Anjorin, A. Stahl, E. Leber, M. Czerski, P.M. Cruceanu, C. Jones, I.R. Posthuma, D. Andlauer, T.F.M. Forstner, A.J. Streit, F. Baune, B.T. Air, T. Sinnamon, G. Wray, N.R. MacIntyre, D.J. Porteous, D. Homuth, G. Rivera, M. Grove, J. Middeldorp, C.M. Hickie, I. Pergadia, M. Mehta, D. Smit, J.H. Jansen, R. De Geus, E. Dunn, E. Li, Q.S. Nauck, M. Schoevers, R.A. Beekman, A.T.F. Knowles, J.A. Viktorin, A. Arnold, P. Barr, C.L. 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.M. Dietrich, A. Fernandez, T. Figee, M. Freimer, N. Gerber, G. Grados, M. Greenberg, E. Hanna, G.L. Hartmann, A. Hirschtritt, M.E. Hoekstra, P.J. Huang, A. Huyser, C. Illmann, C. Jenike, M. Kuperman, S. Leventhal, B. Lochner, C. Lyon, G.J. Macciardi, F. Madruga-Garrido, M. Malaty, I.A. Maras, A. McGrath, L. Miguel, E.C. Mir, P. Nestadt, G. Nicolini, H. Okun, M.S. Pakstis, A. Paschou, P. Piacentini, J. Pittenger, C. Plessen, K. Ramensky, V. Ramos, E.M. Reus, V. Richter, M.A. Riddle, M.A. Robertson, M.M. Roessner, V. Rosário, M. Samuels, J.F. Sandor, P. Stein, D.J. Tsetsos, F. Van Nieuwerburgh, F. Weatherall, S. Wendland, J.R. Wolanczyk, T. Worbe, Y. Zai, G. Goes, F.S. McLaughlin, N. Nestadt, P.S. Grabe, H.-J. Depienne, C. Konkashbaev, A. Lanzagorta, N. Valencia-Duarte, A. Bramon, E. Buccola, N. Cahn, W. Cairns, M. Chong, S.A. 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.L.C. Limborska, S. Loughland, C. Lönnqvist, J. Maher, B. Mattheisen, M. McDonald, C. Murphy, K.C. Nenadic, I. Van Os, J. Pantelis, C. Pato, M. Petryshen, T. Quested, D. Roussos, P. Sanders, A.R. Schall, U. Schwab, S.G. Sim, K. So, H.-C. Stögmann, E. Subramaniam, M. Toncheva, D. Waddington, J. Walters, J. Weiser, M. Cheng, W. Cloninger, R. Curtis, D. Gejman, P.V. Henskens, F. Mattingsdal, M. Oh, S.-Y. Scott, R. Webb, B. Breen, G. Churchhouse, C. Bulik, C.M. Daly, M. Dichgans, M. Faraone, S.V. Guerreiro, R. Holmans, P. Kendler, K.S. Koeleman, B. Mathews, C.A. Price, A. Scharf, J. Sklar, P. Williams, J. Wood, N.W. Cotsapas, C. Palotie, A. Smoller, J.W. Sullivan, P. Rosand, J. Corvin, A. Neale, B.M. The Brainstorm Consortium

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. © 2018 American Association for the Advancement of Science. All rights reserved.

Published
2018

24. Age at first birth in women is genetically associated with increased risk of schizophrenia

Author

Ni, G. (Guiyan), Gratten, J. (Jacob), Wray, N.R. (Naomi R.), Lee, S.H. (Sang Hong), Ripke, S. (Stephan), Neale, B.M. (Benjamin), Corvin, A. (Aiden), Walters, J.T. (James), Farh, K.-H. (Kai-How), Holmans, P.A. (Peter A.), Lee, P.H. (Phil H.), Bulik-Sullivan, B.K. (Brendan), Collier, D.A. (David), Huang, H. (Hailiang), Pers, T.H. (Tune), Agartz, I. (Ingrid), Agerbo, E. (Esben), Albus, M. (Margot), Alexander, M. (Madeline), Amin, F. (Farooq), Bacanu, S.A. (Silviu), Begemann, M. (Martin), Belliveau, R.A. (Richard A.), Bene, J. (Judit), Bergen, S.E. (Sarah), Bevilacqua, E. (Elizabeth), Bigdeli, T.B. (Tim B.), Black, D.W. (Donald), Bruggeman, R. (Richard), Buccola, N.G. (Nancy G), Buckner, M., Byerley, W.F. (William F), Cahn, W. (Wiepke), Cai, G. (Guiqing), Campion, D. (Dominique), Cantor, R.M., Carr, V.J. (Vaughan J.), Carrera, N. (Noa), Catts, S.V. (Stanley), Chambert, K. (Kimberly), Chan, R.C.K. (Raymond C. K.), Chen, R.Y.L. (Ronald Y.), Chen, E.Y.H. (Eric Y. H.), Cheng, W. (Wei), Cheung, E.F.C. (Eric F. C.), Chong, S.A. (Siow Ann), Cloninger, C.R. (C Robert), Cohen, D.J. (David J.), Cohen, N. (Nadine), Cormican, P. (Paul), Craddock, N.J. (Nick), Crowley, J.J. (James), Curtis, D. (David), Davidson, M.W. (Michael ), Davis, K.L. (Kenneth), Degenhardt, F., Del-Favero, J. (Jurgen), Demontis, D. (Ditte), Dikeos, D. (Dimitris), Dinan, T. (Timothy), Djurovic, S. (Srdjan), Donohoe, D.J. (Dennis), Drapeau, E. (Elodie), Duan, J. (Jubao), Dudbridge, F. (Frank), Durmishi, N. (Naser), Eichhammer, P. (Peter), Hagen, K. (Knut), Escott-Price, V. (Valentina), Essioux, L. (Laurent), Fanous, A.H. (Ayman H.), Farrell, M.S. (Martilias), Frank, J. (Josef), Franke, L. (Lude), Freedman, R. (Robert), Freimer, N.B. (Nelson), Friedl, M., Friedman, J.I. (Joseph), Fromer, M. (Menachem), Genovese, G. (Giulio), Georgieva, I. (Irina), Giegling, I. (Ina), Giusti-Rodríguez, P. (Paola), Godard, S. (Stephanie), Goldstein, J.I. (Jacqueline), Golimbet, V. (Vera), Gopal, R. (Robin), Haan, L. (Lieuwe) de, Hammer, C. (Christian), Hamshere, M.L. (Marian), Hansen, M. (Mark), Hansen, T. (Thomas), Haroutunian, V. (Vahram), Hartmann, A.M. (Annette M.), Henskens, F.A. (Frans), Herms, S. (Stefan), Hirschhorn, J.N. (Joel), Hoffmann, P. (Per), Hofman, A. (Andrea), Hollegaard, M.V. (Mads V), Hougaard, D.M. (David), Ikeda, M. (Masashi), Joa, I. (Inge), Juliá, A. (Antonio), Kahn, R. (René), Kalaydjieva, L. (Luba), Karachanak-Yankova, S. (Sena), Karjalainen, J. (Juha), Kavanagh, D. (David), Keller, M.C. (Matthew C), Kennedy, J.L., Khrunin, A. (Andrey), Kim, Y. (Yunjung), Klovins, J. (Janis), Knowles, J.A. (James A), Konte, B. (Bettina), Kučinskas, V. (Vaidutis), Kucinskiene, Z.A. (Zita Ausrele), Kuzelova-Ptackova, H. (Hana), Kähler, J. (Jan), Laurent, C. (Camille), Keong, J.L.C. (Jimmy Lee Chee), Legge, S.E. (Sophie), Lerer, B. (Bernard), Li, M. (Miaoxin), Li, T. (Tao), Liang, K.-Y. (Kung-Yee), Lieberman, A.P. (Andrew), Limborska, S. (Svetlana), Loughland, C.M. (Carmel), Lubinski, J. (Jan), Lönnqvist, J. (Jouko), Macek, M. (Milan MI), Magnusson, P.K. (Patrik), Maher, B.S. (Brion), Maier, W. (Wolfgang), Mallet, V. (Vincent), Marsal, S. (Sara), Mattheisen, M. (Manuel), Mattingsdal, M. (Morten), McCarley, R.W. (Robert), McDonald, C. (Colm), McIntosh, A.M. (Andrew), Meier, S., Meijer, C. (Carin), Melegh, B. (Bela), Melle, I. (Ingrid), Mesholam-Gately, R.I. (Raquelle), Metspalu, A. (Andres), Michie, P.T. (Patricia), Milani, L. (Lili), Milanova, V. (Vihra), Mokrab, Y. (Younes), Morris, D.W. (Derek W.), Mors, O., Murphy, K.C. (Kieran), Murray, R. (Robin), Myin-Germeys, I. (Inez), Müller-Myhsok, B. (B.), Nelis, M. (Mari), Nenadic, I. (Igor), Nertney, D.A. (Deborah), Nestadt, G. (Gerald), Nicodemus, K.K. (Kristin), Nikitina-Zake, L. (Liene), Nisenbaum, L. (Laura), Nordin, A. (Annelie), O'Callaghan, E. (Eadbhard), O'Dushlaine, C. (Colm), O'neill, F.A. (F. Anthony), Oh, S.-Y. (Sang-Yun), Olincy, A. (Ann), Olsen, L. (Line), Os, J.V. (Jim Van), Pantelis, C. (Christos), Papadimitriou, G.N. (George), Papiol, S. (Sergi), Parkhomenko, E. (Elena), Pato, C. (Carlos), Paunio, T. (Tiina), Pejovic-Milovancevic, M. (Milica), Perkins, D.O. (Diana O.), Pietiläinen, O.P.H. (Olli), Pimm, J. (Jonathan), Pocklington, A.J. (Andrew), Powell, J. (John), Price, A. (Alkes), Pulver, A.E. (Ann), Purcell, S.M. (Shaun M.), Quested, D.J. (Digby J), Rasmussen, H.B. (Henrik B), Reichenberg, A. (Abraham), Reimers, B. (Bernhard), Richards, A. (Alex), Roffman, J.L. (Joshua), Roussos, A. (Alexandra), Ruderfer, D. (Douglas), Salomaa, V. (Veikko), Sanders, A.R. (Alan), Schall, J.D. (Jeffrey), Schubert, C.R. (Christian R.), Schulze, T.G. (Thomas), Schwab, S.G. (Sibylle G.), Scolnick, E. (Edward), Scott, R.J. (Rodney J.), Seidman, L.J. (Larry), Shi, J. (Jianxin), Sigurdsson, E. (Engilbert), Silagadze, T. (Teimuraz), Silverman, J.M. (Jeremy M.), Sim, K. (Kang), Slominsky, P. (Petr), Smoller, J.W., So, H.-C. (Hon-Cheong), Spencer, C.C.A. (Chris C.), Stahl, E.A. (Eli A.), Stefansson, H. (Hreinn), Steinberg, S. (Stacy), Stogmann, E. (Elisabeth), Straub, R.E. (Richard), Strengman, E. (Eric), Strohmaier, J. (Jana), Stroup, T.S. (T. Scott), Subramaniam, V. (Venkat), Suvisaari, J. (Jaana), Svrakic, D.M. (Dragan), Szatkiewicz, J.P. (Jin P.), Söderman, E. (Erik), Thirumalai, S. (Srinivasa), Toncheva, D. (Draga), Tosato, S. (Sarah), Veijola, J. (Juha), Waddington, J. (John), Walsh, D. (Dermot), Wang, D. (Dai), Wang, Q. (Qiang), Webb, B.T. (Bradley T.), Weiser, M. (Mark), Wildenauer, D.B. (Dieter), Williams, N.M. (Nigel M.), Williams, S. (Stephanie), Witt, S.H. (Stephanie H), Wolen, A.R. (Aaron), Wong, E.H.M. (Emily H.M.), Wormley, B.K. (Brandon K.), Xi, H.S. (Hualin Simon), Zai, C.C. (Clement C.), Zheng, X. (Xuebin), Zimprich, F. (Fritz), Zwart, J-A. (John-Anker), Visscher, P.M. (Peter), Adolfsson, R., Andreassen, O.A. (Ole), Blackwood, D.H.R. (Douglas), Bramon, E. (Elvira), Buxbaum, J.D. (Joseph D.), Borglum, A.D. (Anders), Cichon, S. (Sven), Darvasi, A. (Ariel), Domenici, E. (Enrico), Ehrenreich, H. (Hannelore), Esko, T. (Tõnu), Gejman, P.V. (Pablo), Gill, M. (Michael), Gurling, H. (Hugh), Hultman, C.M. (Christina), Iwata, N. (Nakao), Jablensky, A. (Assen), Jönsson, E.G. (Erik), Kendler, K. (K.), Kirov, G. (George), Knight, J. (Jo), Lencz, T. (Todd), Levinson, D.F. (Douglas F.), Li, Q.S. (Qingqin S.), Liu, J. (Jianjun), Malhotra, A.K. (Anil K), McCarroll, S.A. (Steve), McQuillin, A. (Andrew), Moran, J.L. (Jennifer L.), Mortensen, P.B., Mowry, B.J. (Bryan J), Nöthen, M.M. (Markus), Ophoff, R.A. (Roel), Owen, M.J. (Michael), Palotie, A. (Aarno), Petryshen, T.L. (Tracey L.), Posthuma, D. (Danielle), Rietschel, M. (Marcella), Riley, B.P. (Brien P.), Rujescu, D. (Dan), Sham, P.C. (Pak C.), Sklar, P. (Pamela), Clair, D.S., Weinberger, D.R. (Daniel), Wendland, A. (Annika), Werge, T.M. (Thomas), Daly, M.J. (Mark J.), Sullivan, P.F. (Patrick), O'donovan, M.C. (Michael), Ni, G. (Guiyan), Gratten, J. (Jacob), Wray, N.R. (Naomi R.), Lee, S.H. (Sang Hong), Ripke, S. (Stephan), Neale, B.M. (Benjamin), Corvin, A. (Aiden), Walters, J.T. (James), Farh, K.-H. (Kai-How), Holmans, P.A. (Peter A.), Lee, P.H. (Phil H.), Bulik-Sullivan, B.K. (Brendan), Collier, D.A. (David), Huang, H. (Hailiang), Pers, T.H. (Tune), Agartz, I. (Ingrid), Agerbo, E. (Esben), Albus, M. (Margot), Alexander, M. (Madeline), Amin, F. (Farooq), Bacanu, S.A. (Silviu), Begemann, M. (Martin), Belliveau, R.A. (Richard A.), Bene, J. (Judit), Bergen, S.E. (Sarah), Bevilacqua, E. (Elizabeth), Bigdeli, T.B. (Tim B.), Black, D.W. (Donald), Bruggeman, R. (Richard), Buccola, N.G. (Nancy G), Buckner, M., Byerley, W.F. (William F), Cahn, W. (Wiepke), Cai, G. (Guiqing), Campion, D. (Dominique), Cantor, R.M., Carr, V.J. (Vaughan J.), Carrera, N. (Noa), Catts, S.V. (Stanley), Chambert, K. (Kimberly), Chan, R.C.K. (Raymond C. K.), Chen, R.Y.L. (Ronald Y.), Chen, E.Y.H. (Eric Y. H.), Cheng, W. (Wei), Cheung, E.F.C. (Eric F. C.), Chong, S.A. (Siow Ann), Cloninger, C.R. (C Robert), Cohen, D.J. (David J.), Cohen, N. (Nadine), Cormican, P. (Paul), Craddock, N.J. (Nick), Crowley, J.J. (James), Curtis, D. (David), Davidson, M.W. (Michael ), Davis, K.L. (Kenneth), Degenhardt, F., Del-Favero, J. (Jurgen), Demontis, D. (Ditte), Dikeos, D. (Dimitris), Dinan, T. (Timothy), Djurovic, S. (Srdjan), Donohoe, D.J. (Dennis), Drapeau, E. (Elodie), Duan, J. (Jubao), Dudbridge, F. (Frank), Durmishi, N. (Naser), Eichhammer, P. (Peter), Hagen, K. (Knut), Escott-Price, V. (Valentina), Essioux, L. (Laurent), Fanous, A.H. (Ayman H.), Farrell, M.S. (Martilias), Frank, J. (Josef), Franke, L. (Lude), Freedman, R. (Robert), Freimer, N.B. (Nelson), Friedl, M., Friedman, J.I. (Joseph), Fromer, M. (Menachem), Genovese, G. (Giulio), Georgieva, I. (Irina), Giegling, I. (Ina), Giusti-Rodríguez, P. (Paola), Godard, S. (Stephanie), Goldstein, J.I. (Jacqueline), Golimbet, V. (Vera), Gopal, R. (Robin), Haan, L. (Lieuwe) de, Hammer, C. (Christian), Hamshere, M.L. (Marian), Hansen, M. (Mark), Hansen, T. (Thomas), Haroutunian, V. (Vahram), Hartmann, A.M. (Annette M.), Henskens, F.A. (Frans), Herms, S. (Stefan), Hirschhorn, J.N. (Joel), Hoffmann, P. (Per), Hofman, A. (Andrea), Hollegaard, M.V. (Mads V), Hougaard, D.M. (David), Ikeda, M. (Masashi), Joa, I. (Inge), Juliá, A. (Antonio), Kahn, R. (René), Kalaydjieva, L. (Luba), Karachanak-Yankova, S. (Sena), Karjalainen, J. (Juha), Kavanagh, D. (David), Keller, M.C. (Matthew C), Kennedy, J.L., Khrunin, A. (Andrey), Kim, Y. (Yunjung), Klovins, J. (Janis), Knowles, J.A. (James A), Konte, B. (Bettina), Kučinskas, V. (Vaidutis), Kucinskiene, Z.A. (Zita Ausrele), Kuzelova-Ptackova, H. (Hana), Kähler, J. (Jan), Laurent, C. (Camille), Keong, J.L.C. (Jimmy Lee Chee), Legge, S.E. (Sophie), Lerer, B. (Bernard), Li, M. (Miaoxin), Li, T. (Tao), Liang, K.-Y. (Kung-Yee), Lieberman, A.P. (Andrew), Limborska, S. (Svetlana), Loughland, C.M. (Carmel), Lubinski, J. (Jan), Lönnqvist, J. (Jouko), Macek, M. (Milan MI), Magnusson, P.K. (Patrik), Maher, B.S. (Brion), Maier, W. (Wolfgang), Mallet, V. (Vincent), Marsal, S. (Sara), Mattheisen, M. (Manuel), Mattingsdal, M. (Morten), McCarley, R.W. (Robert), McDonald, C. (Colm), McIntosh, A.M. (Andrew), Meier, S., Meijer, C. (Carin), Melegh, B. (Bela), Melle, I. (Ingrid), Mesholam-Gately, R.I. (Raquelle), Metspalu, A. (Andres), Michie, P.T. (Patricia), Milani, L. (Lili), Milanova, V. (Vihra), Mokrab, Y. (Younes), Morris, D.W. (Derek W.), Mors, O., Murphy, K.C. (Kieran), Murray, R. (Robin), Myin-Germeys, I. (Inez), Müller-Myhsok, B. (B.), Nelis, M. (Mari), Nenadic, I. (Igor), Nertney, D.A. (Deborah), Nestadt, G. (Gerald), Nicodemus, K.K. (Kristin), Nikitina-Zake, L. (Liene), Nisenbaum, L. (Laura), Nordin, A. (Annelie), O'Callaghan, E. (Eadbhard), O'Dushlaine, C. (Colm), O'neill, F.A. (F. Anthony), Oh, S.-Y. (Sang-Yun), Olincy, A. (Ann), Olsen, L. (Line), Os, J.V. (Jim Van), Pantelis, C. (Christos), Papadimitriou, G.N. (George), Papiol, S. (Sergi), Parkhomenko, E. (Elena), Pato, C. (Carlos), Paunio, T. (Tiina), Pejovic-Milovancevic, M. (Milica), Perkins, D.O. (Diana O.), Pietiläinen, O.P.H. (Olli), Pimm, J. (Jonathan), Pocklington, A.J. (Andrew), Powell, J. (John), Price, A. (Alkes), Pulver, A.E. (Ann), Purcell, S.M. (Shaun M.), Quested, D.J. (Digby J), Rasmussen, H.B. (Henrik B), Reichenberg, A. (Abraham), Reimers, B. (Bernhard), Richards, A. (Alex), Roffman, J.L. (Joshua), Roussos, A. (Alexandra), Ruderfer, D. (Douglas), Salomaa, V. (Veikko), Sanders, A.R. (Alan), Schall, J.D. (Jeffrey), Schubert, C.R. (Christian R.), Schulze, T.G. (Thomas), Schwab, S.G. (Sibylle G.), Scolnick, E. (Edward), Scott, R.J. (Rodney J.), Seidman, L.J. (Larry), Shi, J. (Jianxin), Sigurdsson, E. (Engilbert), Silagadze, T. (Teimuraz), Silverman, J.M. (Jeremy M.), Sim, K. (Kang), Slominsky, P. (Petr), Smoller, J.W., So, H.-C. (Hon-Cheong), Spencer, C.C.A. (Chris C.), Stahl, E.A. (Eli A.), Stefansson, H. (Hreinn), Steinberg, S. (Stacy), Stogmann, E. (Elisabeth), Straub, R.E. (Richard), Strengman, E. (Eric), Strohmaier, J. (Jana), Stroup, T.S. (T. Scott), Subramaniam, V. (Venkat), Suvisaari, J. (Jaana), Svrakic, D.M. (Dragan), Szatkiewicz, J.P. (Jin P.), Söderman, E. (Erik), Thirumalai, S. (Srinivasa), Toncheva, D. (Draga), Tosato, S. (Sarah), Veijola, J. (Juha), Waddington, J. (John), Walsh, D. (Dermot), Wang, D. (Dai), Wang, Q. (Qiang), Webb, B.T. (Bradley T.), Weiser, M. (Mark), Wildenauer, D.B. (Dieter), Williams, N.M. (Nigel M.), Williams, S. (Stephanie), Witt, S.H. (Stephanie H), Wolen, A.R. (Aaron), Wong, E.H.M. (Emily H.M.), Wormley, B.K. (Brandon K.), Xi, H.S. (Hualin Simon), Zai, C.C. (Clement C.), Zheng, X. (Xuebin), Zimprich, F. (Fritz), Zwart, J-A. (John-Anker), Visscher, P.M. (Peter), Adolfsson, R., Andreassen, O.A. (Ole), Blackwood, D.H.R. (Douglas), Bramon, E. (Elvira), Buxbaum, J.D. (Joseph D.), Borglum, A.D. (Anders), Cichon, S. (Sven), Darvasi, A. (Ariel), Domenici, E. (Enrico), Ehrenreich, H. (Hannelore), Esko, T. (Tõnu), Gejman, P.V. (Pablo), Gill, M. (Michael), Gurling, H. (Hugh), Hultman, C.M. (Christina), Iwata, N. (Nakao), Jablensky, A. (Assen), Jönsson, E.G. (Erik), Kendler, K. (K.), Kirov, G. (George), Knight, J. (Jo), Lencz, T. (Todd), Levinson, D.F. (Douglas F.), Li, Q.S. (Qingqin S.), Liu, J. (Jianjun), Malhotra, A.K. (Anil K), McCarroll, S.A. (Steve), McQuillin, A. (Andrew), Moran, J.L. (Jennifer L.), Mortensen, P.B., Mowry, B.J. (Bryan J), Nöthen, M.M. (Markus), Ophoff, R.A. (Roel), Owen, M.J. (Michael), Palotie, A. (Aarno), Petryshen, T.L. (Tracey L.), Posthuma, D. (Danielle), Rietschel, M. (Marcella), Riley, B.P. (Brien P.), Rujescu, D. (Dan), Sham, P.C. (Pak C.), Sklar, P. (Pamela), Clair, D.S., Weinberger, D.R. (Daniel), Wendland, A. (Annika), Werge, T.M. (Thomas), Daly, M.J. (Mark J.), Sullivan, P.F. (Patrick), and O'donovan, M.C. (Michael)

Abstract

Previous studies have shown an increased risk for mental health problems in children born to both younger and older parents compared to children of average-aged parents. We previously used a novel design to reveal a latent mechanism of genetic association between schizophrenia and age at first birth in women (AFB). Here, we use independent data from the UK Biobank (N = 38,892) to replicate the finding of an association between predicted genetic risk of schizophrenia and AFB in women, and to estimate the genetic correlation between schizophrenia

Published
2018
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25. 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. 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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, Neale, Benjamin M., 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, 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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

30. Correction: A european spectrum of pharmacogenomic biomarkers: Implications for clinical pharmacogenomics (PLoS ONE (2016) 11:9 (e0162866) DOI: 10.1371/journal.pone.0162866)

Author

Mizzi, C., Dalabira, E., Kumuthini, J., Dzimiri, N., Balogh, István, Başak, N., Böhm, R., Borg, J., Borgiani, P., Bozina, N., Bruckmueller, B., Burzynska, B., Carracedo, A., Cascorbi, I., Constantinou-Deltas, Constantinos D., Dolzan, V., Fenech, A., Grech, G., Kasiulevicius, V., Kádaši, D., Kučinskas, V., Khusnutdinova, E., Loukas, Y. L., Macek, M., Jr., Makukh, H., Mathijssen, R., Mitropoulos, K., Mitropoulou, C., Novelli, G., Papantoni, I., Pavlovic, S., Saglio, G., Setric, J., Stojiljkovic, M., Stubbs, A. P., Squassina, A., Torres, M., Turnovec, M., van Schaik, R. H., Voskarides, Konstantinos, Wakil, S. M., Werk, A., del Zompo, M., Zukic, B., Katsila, T., Ta Michael Lee, M., Motsinger-Rief, A., Mc Leod, H. L., van der Spek, P. J., Patrinos, G. P., and Constantinou-Deltas, Constantinos D. [0000-0001-5549-9169]

Subjects
pharmacogenomics
Abstract

The thirty-Third author's name is spelled incorrectly. The correct name is: Jadranka Sertić. © 2017 Mizzi et al. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. 12

Published
2017

31. Correction: A european spectrum of pharmacogenomic biomarkers: Implications for clinical pharmacogenomics (PLoS ONE (2016) 11:9 (e0162866) DOI: 10.1371/journal.pone.0162866)

Author

Mizzi, C. Dalabira, E. Kumuthini, J. Dzimiri, N. Balogh, I. Başak, N. Böhm, R. Borg, J. Borgiani, P. Bozina, N. Bruckmueller, B. Burzynska, B. Carracedo, A. Cascorbi, I. Deltas, C. Dolzan, V. Fenech, A. Grech, G. Kasiulevicius, V. Kádaši, D. Kučinskas, V. Khusnutdinova, E. Loukas, Y.L. Macek, M., Jr. Makukh, H. Mathijssen, R. Mitropoulos, K. Mitropoulou, C. Novelli, G. Papantoni, I. Pavlovic, S. Saglio, G. Setric, J. Stojiljkovic, M. Stubbs, A.P. Squassina, A. Torres, M. Turnovec, M. van Schaik, R.H. Voskarides, K. Wakil, S.M. Werk, A. del Zompo, M. Zukic, B. Katsila, T. Ta Michael Lee, M. Motsinger-Rief, A. Mc Leod, H.L. van der Spek, P.J. Patrinos, G.P.

Abstract

The thirty-Third author's name is spelled incorrectly. The correct name is: Jadranka Sertić. © 2017 Mizzi et al. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.

Published
2017

32. Athlome project consortium: A concerted effort to discover genomic and other 'omic' markers of athletic performance

Author

Pitsiladis, Y.P. Tanaka, M. Eynon, N. Bouchard, C. North, K.N. Williams, A.G. Collins, M. Moran, C.N. Britton, S.L. Fuku, N. Ashley, E.A. Klissouras, V. Lucia, A. Ahmetov, I.I. De Geus, E. Alsayrafi, M. Webborn, N. Wang, G. Bishop, D.J. Papadimitriou, I. Yan, X. Tirosh, O. Kuang, J. Rankinen, T. Sarzinsky, M. Mikael Mattsson, C. Wheeler, M. Waggott, D. Byrne, N.M. Artioli, G.G. September, A. Posthumus, M. Van der Merwe, W. Cieszczyk, P. Leonska-Duniec, A. Ficek, K. Maciejewska-Karlowska, A. Sawczuk, M. Stepien-Slodkowska, M. Feller, J. Dijkstra, P. Chmutov, A.M. Dyatlov, D.A. Orekhov, E.F. Pushkareva, Y.E. Shvedkaya, I.A. Massidda, M. Calò, C.M. Day, S.H. Stebbings, G.K. Erskine, R.M. Montgomery, H.E. Garton, F.C. Houweling, P. Derave, W. Baguet, A. Muniesa, C.A. Sessa, F. Petito, A. Sale, C. Hughes, D.C. Varley, I. Boomsma, D. Bartels, M. Davies, G.E. Ginevičienė, V. Jakaitienė, A. Kučinskas, V. Tubelis, L. Utkus, A. Milašius, K. Venckunas, T. Skurvydas, A. Stasiulis, A. Malkova, D. Wilson, R. Koch, L.G. Zempo, H. Naito, H. Kikuchi, N. Miyamoto-Mikami, E. Murakami, H. Miyachi, M. Takahashi, H. Ohiwa, N. Kawahara, T. Tsuchie, H. Tobina, T. Ichinoseki-Sekine, N. Tanaka, H. Kaneoka, K. Nakazato, K. Egorova, E.S. Gabdrakhmanova, L.J. Arkhipova, A.A. Borisova, A.V. Gabbasov, R.T. Stepanova, A.A. Kashapov, R.I. Rogozkin, V.A. Astratenkova, I.V. Druzhevskaya, A.M. Fedotovskaya, O.N. Golberg, N.D. Hakimullina, A.M. Kostryukova, E.S. Alexeev, D.G. Generozov, E.V. Ischenko, D.S. Kulemin, N.A. Larin, A.K. Ospanova, E.A. Pavlenko, A.V. Govorun, V.M. Gilep, A.A. Gilep, I.L. Haidukevich, I.V. Rybina, I.L. Drozdovska, S.B. Docenko, V.E. Ilyin, V.N. Lekontsev, E. Akimov, E.B. El-Rayess, M. Georgakopoulos, C. Botre, F. Suhre, K. Hubank, M. Wolfarth, B. Greeves, J.P. Stellingwerff, T. Ranson, C. Fraser, W.D. Grealy, R. Griffiths, L. Scott, R. Pushkarev, V.P. Athlome Project Consortium

Abstract

Despite numerous attempts to discover genetic variants associated with elite athletic performance, injury predisposition, and elite/world-class athletic status, there has been limited progress to date. Past reliance on candidate gene studies predominantly focusing on genotyping a limited number of single nucleotide polymorphisms or the insertion/deletion variants in small, often heterogeneous cohorts (i.e., made up of athletes of quite different sport specialties) have not generated the kind of results that could offer solid opportunities to bridge the gap between basic research in exercise sciences and deliverables in biomedicine. A retrospective view of genetic association studies with complex disease traits indicates that transition to hypothesis-free genome-wide approaches will be more fruitful. In studies of complex disease, it is well recognized that the magnitude of genetic association is often smaller than initially anticipated, and, as such, large sample sizes are required to identify the gene effects robustly. A symposium was held in Athens and on the Greek island of Santorini from 14 -17 May 2015 to review the main findings in exercise genetics and genomics and to explore promising trends and possibilities. The symposium also offered a forum for the development of a position stand (the Santorini Declaration). Among the participants, many were involved in ongoing collaborative studies (e.g., ELITE, GAMES, Gene SMART, GENESIS, and POWERGENE). A consensus emerged among participants that it would be advantageous to bring together all current studies and those recently launched into one new large collaborative initiative, which was subsequently named the Athlome Project Consortium. © 2016 the American Physiological Society.

Published
2016

33. A European spectrum of pharmacogenomic biomarkers: Implications for clinical pharmacogenomics

Author

Mizzi, C., Dalabira, E., Kumuthini, J., Dzimiri, N., Balogh, István, Başak, N., Böhm, R., Borg, J., Borgiani, P., Bozina, N., Bruckmueller, H., Burzynska, B., Carracedo, A., Cascorbi, I., Constantinou-Deltas, Constantinos D., Dolzan, V., Fenech, A., Grech, G., Kasiulevicius, V., Kádaši, L., Kučinskas, V., Khusnutdinova, E., Loukas, Y. L., Macek, M., Makukh, H., Mathijssen, R., Mitropoulos, K., Mitropoulou, C., Novelli, G., Papantoni, I., Pavlovic, S., Saglio, G., Setric, J., Stojiljkovic, M., Stubbs, A. P., Squassina, A., Torres, M., Turnovec, M., Van Schaik, R. H., Voskarides, Konstantinos, Wakil, S. M., Werk, A., Zompo, M. D., Zukic, B., Katsila, T., Lee, M. T. M., Motsinger-Rief, A., Leod, H. L. M., Van Der Spek, P. J., Patrinos, G. P., Constantinou-Deltas, Constantinos D. [0000-0001-5549-9169], Pathology, Medical Oncology, and Clinical Chemistry

Subjects
0301 basic medicine, Genetics and Molecular Biology (all), Anticoagulants, Cluster Analysis, Cytochrome P-450 CYP2C9, Ethnic Groups, Europe, Humans, Vitamin K Epoxide Reductases, Warfarin, Genetic Markers, Pharmacogenetics, Biochemistry, Genetics and Molecular Biology (all), Agricultural and Biological Sciences (all), genotype, lcsh:Medicine, Toxicology, Pathology and Laboratory Medicine, Bioinformatics, anticoagulant agent, Biochemistry, human experiment, ethnic group, Medicine and Health Sciences, Drugs -- Effectiveness, genetics, TPMT gene, lcsh:Science, pharmacogenetics, Multidisciplinary, cytochrome P450 2C9, biology, Pharmaceutics, VKORC1 protein, human, Drugs, Orvostudományok, Genomics, biological marker, 3. Good health, CYP2C9 gene, Biomarker (medicine), VKORC1, genetic marker, Research Article, Biotechnology, Genotyping, Pharmacogenomic Testing, CYP2C19, gene frequency, Klinikai orvostudományok, Research and Analysis Methods, European, Article, CYP3A5 gene, medication therapy management, SLCO1B1 gene, vitamin K epoxide reductase, CYP2C19 gene, 03 medical and health sciences, Dose Prediction Methods, Genomic Medicine, Drug Therapy, Genetics, controlled study, human, normal human, Molecular Biology Techniques, gene, Molecular Biology, Allele frequency, Pharmacology, pharmacogenomics, Pharmacogenomics, genetic composition, biomarkers, allele frequency, European populations, Toxicity, lcsh:R, Biology and Life Sciences, warfarin, 030104 developmental biology, Settore MED/03 - Genetica Medica, biology.protein, lcsh:Q, VKORC1 gene, SLCO1B1, Biomarkers, cluster analysis
Abstract

Acknowledgments: The Euro-PGx project was partly funded by European grant (RD-Connect; FP7-305444) and the Golden Helix Foundation and encouraged by the Genomic Medicine Alliance Pharmacogenomics Working group. The Lithuanian segment of the project was supported by the LITGEN project (VP1-3.1-ŠMM-07-K-01-013), funded by the European Social Fund under the Global Grant Measure. The Czech segment of the project was supported by 00064203, LN14073, LM2015091, NF-CZ11-PDP-3-003-2014 and CZ.2.16/3.1.00/24022OPPK grants to MM. JK was funded by the National Institutes of Health Common Fund Award NHGRI Grant Number U41HG006941. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript. The authors declare no conflict of interests., Pharmacogenomics aims to correlate inter-individual differences of drug efficacy and/or toxicity with the underlying genetic composition, particularly in genes encoding for protein factors and enzymes involved in drug metabolism and transport. In several European populations, particularly in countries with lower income, information related to the prevalence of pharmacogenomic biomarkers is incomplete or lacking. Here, we have implemented the microattribution approach to assess the pharmacogenomic biomarkers allelic spectrum in 18 European populations, mostly from developing European countries, by analyzing 1,931 pharmacogenomics biomarkers in 231 genes. Our data show significant interpopulation pharmacogenomic biomarker allele frequency differences, particularly in 7 clinically actionable pharmacogenomic biomarkers in 7 European populations, affecting drug efficacy and/or toxicity of 51 medication treatment modalities. These data also reflect on the differences observed in the prevalence of high-risk genotypes in these populations, as far as common markers in the CYP2C9, CYP2C19, CYP3A5, VKORC1, SLCO1B1 and TPMT pharmacogenes are concerned. Also, our data demonstrate notable differences in predicted genotype-based warfarin dosing among these populations. Our findings can be exploited not only to develop guidelines for medical prioritization, but most importantly to facilitate integration of pharmacogenomics and to support pre-emptive pharmacogenomic testing. This may subsequently contribute towards significant cost-savings in the overall healthcare expenditure in the participating countries, where pharmacogenomics implementation proves to be cost-effective., The Euro-PGx project was partly funded by European grant (RD-Connect; FP7-305444) and the Golden Helix Foundation and encouraged by the Genomic Medicine Alliance Pharmacogenomics Working group. The Lithuanian segment of the project was supported by the LITGEN project (VP1- 3.1-ŠMM-07-K-01-013), funded by the European Social Fund under the Global Grant Measure. The Czech segment of the project was supported by 00064203, LN14073, LM2015091, NF-CZ11-PDP-3-003-2014 and CZ.2.16/3.1.00/24022OPPK grants to MM. JK was funded by the National Institutes of Health Common Fund Award NHGRI Grant Number U41HG006941. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript., peer-reviewed

Published
2016

34. A European spectrum of pharmacogenomic biomarkers: Implications for clinical pharmacogenomics

Author

Mizzi, C. (Clint), Dalabira, E. (Eleni), Kumuthini, J. (Judit), Dzimiri, N. (Nduna), Balogh, I. (Istvan), Başak, N. (Nazli), Böhm, R. (Ruwen), Borg, J. (Joseph), Borgiani, P. (P.), Bozina, N. (Nada), Bruckmueller, H. (Henrike), Burzynska, B. (Beata), Carracedo, A. (Angel), Cascorbi, I. (Ingolf), Deltas, C. (Constantinos), Dolzan, V. (Vita), Fenech, A. (Anthony), Grech, G. (Godfrey), Kasiulevicius, V. (Vytautas), Kádaši, L. (Ludevít), Kučinskas, V. (Vaidutis), Khusnutdinova, E.K. (Elza), Loukas, Y.L. (Yiannis L.), Macek, M. (Milan), Makukh, H. (Halyna), Mathijssen, A.H.J. (Ron), Mitropoulos, K. (Konstantinos), Mitropoulou, C. (Christina), Novelli, G. (Giuseppe), Papantoni, I. (Ioanna), Pavlovic, S. (Sonja), Saglio, G., Setric, J. (Jadranka), Stojiljkovic, M. (Maja), Stubbs, A.P. (Andrew), Squassini, A. (Alessio), Torres, M. (Maria), Turnovec, M. (Marek), Schaik, R.H.N. (Ron) van, Voskarides, K. (Konstantinos), Wakil, S.M. (Salma M.), Werk, A. (Anneke), Zompo, M.D. (Maria Del), Zukic, B. (Branka), Katsila, T. (Theodora), Lee, M.T.M. (M. T M), Motsinger-Rief, A. (Alison), Leod, H.L.M. (Howard L. Mc), Spek, P.J. (Peter) van der, Patrinos, G.P. (George), Mizzi, C. (Clint), Dalabira, E. (Eleni), Kumuthini, J. (Judit), Dzimiri, N. (Nduna), Balogh, I. (Istvan), Başak, N. (Nazli), Böhm, R. (Ruwen), Borg, J. (Joseph), Borgiani, P. (P.), Bozina, N. (Nada), Bruckmueller, H. (Henrike), Burzynska, B. (Beata), Carracedo, A. (Angel), Cascorbi, I. (Ingolf), Deltas, C. (Constantinos), Dolzan, V. (Vita), Fenech, A. (Anthony), Grech, G. (Godfrey), Kasiulevicius, V. (Vytautas), Kádaši, L. (Ludevít), Kučinskas, V. (Vaidutis), Khusnutdinova, E.K. (Elza), Loukas, Y.L. (Yiannis L.), Macek, M. (Milan), Makukh, H. (Halyna), Mathijssen, A.H.J. (Ron), Mitropoulos, K. (Konstantinos), Mitropoulou, C. (Christina), Novelli, G. (Giuseppe), Papantoni, I. (Ioanna), Pavlovic, S. (Sonja), Saglio, G., Setric, J. (Jadranka), Stojiljkovic, M. (Maja), Stubbs, A.P. (Andrew), Squassini, A. (Alessio), Torres, M. (Maria), Turnovec, M. (Marek), Schaik, R.H.N. (Ron) van, Voskarides, K. (Konstantinos), Wakil, S.M. (Salma M.), Werk, A. (Anneke), Zompo, M.D. (Maria Del), Zukic, B. (Branka), Katsila, T. (Theodora), Lee, M.T.M. (M. T M), Motsinger-Rief, A. (Alison), Leod, H.L.M. (Howard L. Mc), Spek, P.J. (Peter) van der, and Patrinos, G.P. (George)

Abstract

Pharmacogenomics aims to correlate inter-individual differences of drug efficacy and/or toxicity with the underlying genetic composition, particularly in genes encoding for protein factors and enzymes involved in drug metabolism and transport. In several European populations, particularly in countries with lower income, information related to the prevalence of pharmacogenomic biomarkers is incomplete or lacking. Here, we have implemented the microattribution approach to assess the pharmacogenomic biomarkers allelic spectrum in 18 European populations, mostly from developing European countries, by analyzing 1,931 pharmacogenomics biomarkers in 231 genes. Our data show significant interpopulation pharmacogenomic biomarker allele frequency differences, particularly in 7 clinically actionable pharmacogenomic biomarkers in 7 European populations, affecting drug efficacy and/or toxicity of 51 medication treatment modalities. These data also reflect on the differences observed in the prevalence of high-risk genotypes in these populations, as far as common markers in the CYP2C9, CYP2C19, CYP3A5, VKORC1, SLCO1B1 and TPMT pharmacogenes are concerned. Also, our data demonstrate notable differences in predicted genotype-based warfarin dosing among these populations. Our findings can be exploited not only to develop guidelines for medical prioritization, but most importantly to facilitate integration of pharmacogenomics and to support pre-emptive pharmacogenomic testing. This may subsequently contribute towards significant cost-savings in the overall healthcare expenditure in the participating countries, where pharmacogenomics implementation proves to be cost-effective.

Published
2016
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36. CNV analysis in the Lithuanian population

Author

Urnikyte, A., primary, Domarkiene, I., additional, Stoma, S., additional, Ambrozaityte, L., additional, Uktveryte, I., additional, Meskiene, R., additional, Kasiulevičius, V., additional, Burokiene, N., additional, and Kučinskas, V., additional

Published
2016
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38. Ar TGFA, TGFB3, GABRB3, RARA ir BCL3 genai susiję su nesindrominiais burnos ir veido įskilumais? Lietuvos tyrimai

Author

Morkūnienė, A., Steponavičiūtė, D., Ambrozaitytė, L., Utkus, A., Linkevičienė, L., and Kučinskas, V.

Subjects
stomatognathic diseases, Genes, Allelic association, Candidate genes, Nonsyndromic orofacial clefts, Transmission disequilibrium test, TDT, Cleft lip, udc:575, Palate--Abnormalities, Genai, Gomurys--Anomalijos, Lūpos nesuaugimas
Abstract

Nonsyndromic orofacial clefting (NS-OFC) is a common complex multifactorial trait with a considerable genetic component and a number of candidate genes suggested by different approaches, but the question of the contribution of their sequence variation to the risk of NS-OFC is still open. A set of 21 biallelic and microsatellite DNA markers in the strong candidate loci TGFA, TGFB3, GABRB3, RARA, and BCL3 were analysed for allelic association with the NS-OFC phenotype in 112 nuclear families (child affected with NSOFC poband + both parents) from Lithuania using the transmission disequilibrium test (TDT). Association was found between the TGFA gene marker rs2166975 and nonsyndromic clef palate (CPO) phenotype (P = 0.0455 [df 1]) as well as between the D2S292 marker and isolated cleft lip with or without cleft palate (CL/P) phenotype in allele-wise TDT (P = 0.0053 [df 9]) and genotype-wise TDT (P = 0.0206 [df 24]). A weak association (P = 0.0850 [df 3]) of the BCL3 marker (BCL3 gene) with the risk of CPO was also shown. Thus, our initial results support the contribution of TGFA locus allelic variation in the etiology of CL/P in the population of Lithuania, but do not point to TGFA as a major causal gene. Different roles for the TGFA and BCL3 genes in the susceptibility to NS-OFC phenotypes are suggested. Nesindrominiai burnos ir veido įskilumai (NS-BVĮ) yra dažna daugiaveiksnė įgimta žmogaus raidos anomalija, kurios patogenezėje svarbūs genetiniai veiksniai. Įvairiais metodais atlikti tyrimai jau atskleidė daugelį genų kandidatų, bet vis dar neaiškus jų nukleotidų sekų variantų ryšys su NS-BVĮ rizika. Šiame darbe taikant perdavimo nepusiausviros testą (transmission disequilibrium test, TDT) buvo analizuojama 21 bialelinių ir mikrosatelitinių DNR žymenų, pasirinktų ypač svarbiose kandidatinėse TGFA, TGFB3, GABRB3, RARA, ir BCL3 srityse, alelių asociacija su NS-BVĮ fenotipu 112-oje šeimų (NS-BVĮ turintis vaikas + abu tėvai) iš Lietuvos. Remiantis rezultatais, buvo nustatyta TGFA geno rs2166975 žymens asociacija su nesindrominio gomurio įskilumo (NS-GĮ) fenotipu (P = 0,0455 [df 1]) ir D2S292 žymens asociacija su nesindrominiu lūpos ir(arba) gomurio įskilumu (NS-L/GĮ) TDT alelių at��vilgiu (P = 0,0053 [df 9]), taip pat TDT testas genotipų atžvilgiu (P = 0,0206 [df 24]). Taip pat buvo nustatyta nedidelė (P = 0,0850 [df 3]) BCL3 žymens (BCL3 genas) asociacija su NS-GĮ rizika. Taigi pradiniai mūsų rezultatai paremia hipotezę apie TGFA genetinės srities alelių įvairovės indėlį į NS-L/GĮ etiologiją Lietuvos populiacijoje, bet nerodo, kad TGFA gali būti pagrindinis priežastinis genas. Tikėtina, kad TGFA ir BCL3 genų vaidmuo nesindrominių burnos ir veido įskilumų polinkiui yra skirtingas.

Published
2007

39. Ancient human genomes suggest three ancestral populations for present-day Europeans

Author

Lazaridis, I, Patterson, N, Mittnik, A, Renaud, G, Mallick, S, Kirsanow, K, Sudmant, Ph, Schraiber, Jg, Castellano, S, Lipson, M, Berger, B, Economou, C, Bollongino, R, Fu, Q, Bos, Ki, Nordenfelt, S, Li, H, De Filippo, C, Prüfer, K, Sawyer, S, Posth, C, Haak, W, Hallgren, F, Fornander, E, Rohland, N, Delsate, D, Francken, M, Guinet, Jm, Wahl, J, Ayodo, G, Babiker, Ha, Bailliet, G, Balanovska, E, Balanovsky, O, Bedoya, G, Ben Ami, H, Bene, J, Berrada, F, Bravi, Cm, Brisighelli, Francesca, Busby, Gb, Cali, F, Churnosov, M, Cole, De, Corach, D, Damba, L, Van Driem, G, Dryomov, S, Fedorova, Sa, Gallego Romero, I, Gubina, M, Hammer, M, Henn, Bm, Hervig, T, Hodoglugil, U, Jha, Ar, Karachanak Yankova, S, Khusainova, R, Khusnutdinova, E, Kittles, R, Kivisild, T, Kučinskas, V, Kushniarevich, A, Laredj, L, Litvinov, S, Loukidis, T, Mahley, Rw, Melegh, B, Metspalu, E, Molina, J, Mountain, J, Näkkäläjärvi, K, Nesheva, D, Nyambo, T, Osipova, L, Platonov, F, Posukh, O, Romano, V, Rothhammer, F, Rudan, I, Ruizbakiev, R, Sahakyan, H, Sajantila, A, Salas, A, Starikovskaya, Eb, Tarekegn, A, Toncheva, D, Turdikulova, S, Utevska, O, Vasquez, R, Villena, M, Voevoda, M, Winkler, Ca, Yepiskoposyan, L, Zalloua, P, Zemunik, T, Cooper, A, Capelli, C, Ruiz Linares, A, Tishkoff, Sa Et Al, Brisighelli, Francesca (ORCID:0000-0001-5469-4413), Lazaridis, I, Patterson, N, Mittnik, A, Renaud, G, Mallick, S, Kirsanow, K, Sudmant, Ph, Schraiber, Jg, Castellano, S, Lipson, M, Berger, B, Economou, C, Bollongino, R, Fu, Q, Bos, Ki, Nordenfelt, S, Li, H, De Filippo, C, Prüfer, K, Sawyer, S, Posth, C, Haak, W, Hallgren, F, Fornander, E, Rohland, N, Delsate, D, Francken, M, Guinet, Jm, Wahl, J, Ayodo, G, Babiker, Ha, Bailliet, G, Balanovska, E, Balanovsky, O, Bedoya, G, Ben Ami, H, Bene, J, Berrada, F, Bravi, Cm, Brisighelli, Francesca, Busby, Gb, Cali, F, Churnosov, M, Cole, De, Corach, D, Damba, L, Van Driem, G, Dryomov, S, Fedorova, Sa, Gallego Romero, I, Gubina, M, Hammer, M, Henn, Bm, Hervig, T, Hodoglugil, U, Jha, Ar, Karachanak Yankova, S, Khusainova, R, Khusnutdinova, E, Kittles, R, Kivisild, T, Kučinskas, V, Kushniarevich, A, Laredj, L, Litvinov, S, Loukidis, T, Mahley, Rw, Melegh, B, Metspalu, E, Molina, J, Mountain, J, Näkkäläjärvi, K, Nesheva, D, Nyambo, T, Osipova, L, Platonov, F, Posukh, O, Romano, V, Rothhammer, F, Rudan, I, Ruizbakiev, R, Sahakyan, H, Sajantila, A, Salas, A, Starikovskaya, Eb, Tarekegn, A, Toncheva, D, Turdikulova, S, Utevska, O, Vasquez, R, Villena, M, Voevoda, M, Winkler, Ca, Yepiskoposyan, L, Zalloua, P, Zemunik, T, Cooper, A, Capelli, C, Ruiz Linares, A, Tishkoff, Sa Et Al, and Brisighelli, Francesca (ORCID:0000-0001-5469-4413)

Abstract

We sequenced the genomes of a ∼7,000-year-old farmer from Germany and eight ∼8,000-year-old hunter-gatherers from Luxembourg and Sweden. We analysed these and other ancient genomes with 2,345 contemporary humans to show that most present-day Europeans derive from at least three highly differentiated populations: west European hunter-gatherers, who contributed ancestry to all Europeans but not to Near Easterners; ancient north Eurasians related to Upper Palaeolithic Siberians, who contributed to both Europeans and Near Easterners; and early European farmers, who were mainly of Near Eastern origin but also harboured west European hunter-gatherer related ancestry. We model these populations' deep relationships and show that early European farmers had ∼44% ancestry from a 'basal Eurasian' population that split before the diversification of other non-African lineages.

Published
2014

41. Plant energy exchange

Author

Sirvydas, P.A., Kerpauskas, P., Kučinskas , V., Sirvydas, P.A., Kerpauskas, P., and Kučinskas , V.

Abstract

Monografijoje nagrinėjama augale vykstančių energinių procesų tąsa fizinėje aplinkoje. Aprašomi augalų energijų ir masės dujinėje būsenoje apykaitos su aplinka procesai, vykstantys riboto storio oro sraute, augalo paviršiaus apykaitos su aplinka sluoksnyje. Nagrinėjama augalo energinės apykaitos procesų savybė skatinti arba slopinti augale vykstančius biologinius procesus. Aprašomi termodinaminiai procesai, vykstantys augalo lapo žiotelėse, aiškinama kilmė jėgų, sukeliančių CO2 ir metabolinių produktų judėjimą augalo apykaitos su aplinka sluoksnyje. Pateikiama procesų, vykstančių lapo požiotelinių tarpuląsčių ertmėse ir žiotelėse termo-dinaminė analizė, aprašomi augalo lapo žiotelinio variklio termo-dinaminiai procesai ir veikimo principas. Monografija skiriama agronomijos, biologijos, žemės ūkio ir aplinkos inžinerijos mokslų srityse dirbantiems mokslininkams ir doktorantams, kurie domisi augalų ekologinėmis ir energinės apykaitos problemomis.

Published
2011

43. Phenotype comparison confirms ZMYND11as a critical gene for 10p15.3 microdeletion syndrome

Author

Tumiene, Birute, Čiuladaitė, Ž., Preikšaitienė, E., Mameniškienė, R., Utkus, A., and Kučinskas, V.

Abstract

Proper epigenetic regulation processes are crucial in the normal development of the human brain. An ever-increasing group of neurodevelopmental disorders due to derangements of epigenetic regulation involve both microdeletion and monogenic syndromes. Some of these syndromes have overlapping clinical phenotypes due to haploinsufficiency-sensitive genes involved in microdeletions. It was shown recently that the ZMYND11gene has important functions in epigenetic regulation as an unconventional transcription co-repressor of highly expressed genes, possibly acting in the repression of cryptic transcription from gene bodies. The aim of our study was to compare the clinical phenotypes of patients with 10p15.3 deletions with the phenotypes of patients with loss-of-function ZMYND11mutations. The results of our study further confirm that the ZMYND11gene is the critical gene for the clinical phenotype of 10p15.3 microdeletion involving the terminal ~4 Mb of chromosome 10p. In addition, accumulating clinical data allow for further characterisation of this syndrome, including neurodevelopmental disorder, characteristic dysmorphic features and some other more frequent symptoms, such as behavioural disturbances, hypotonia, seizures, low birth weight, short stature in those older than 10 years of age, genitourinary malformations and recurrent infections.

Published
2017
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45. FEASIBILITY STUDY OF MEDIUM ROTATION ENERGY PLANT UTILIZATION FOR BIOFUEL PRODUCTION.

Author

Kučinskas, V., Jasinskas, A., and Mašek, J.

Subjects
*ENERGY industries, *BIOGAS industry, *ELECTRIC power systems, *ELECTRIC utilities, *BIOMASS energy
Abstract

Timber is predominant resource of the biomass used for the purposes of energy production. Recently, plantations of medium rotation trees of hybrid species have been increasingly cultivated in order to produce timber to be used as a bio-fuel. Coppice plantations are cultivated on the basis of intense techniques in order to achieve accelerated wood production or any other production related to woody crops. Plant growth period of long rotation trees amounts for nearly 30-60 years, whereas that of medium rotation trees of hybrid species - only 15-20 years. Physical characteristics of chaffs of the following medium rotation energy plants have been determined: Quaking aspen (PopulusTremula), Robinia and the wild cherry tree (Pseudoacacia). The main fraction of the timber chipped using Pezzolato drum chipper has been comprised of the 8-16 mm sized particles. The ash content of medium rotation energy plants was found to be low: amounted from 1.87 % (of the wild cherry tree) to 2.4 % (of Robinia), whereas calorific values of the plants under investigation were found to be rather high: amounting for approx. 18.7 MJ/kg. These are close to calorific values of birch which is considered to be the main benchmark or reference in Lithuania. Change in bulk density was found under variable moisture content of wood. Comparison to the bulk density of the absolutely dry wood shows the density of aspen and wild sweet cherry to be rather similar and vary only in range of error; whereas density of robinia is by 3-4 % lower. Increase in moisture content resulted in bulk density of all the sorts of wood to increase in a very similar manner, consequently it was assumed to be identical in all the calculations made. Decrease in moisture content resulted in increase of collapse (fall) angle: of aspen - from 62 to 77°, of robinia - from 90 to 115°, wild sweet cherry - from 65 to 82°. Lower effect of moisture content was found on the valued of flowing angle. It respectively varied as follows: of aspen - from 34 to 40°, of robinia - from 34 to 40°, of wild sweet cherry - from 36 to 42°. [ABSTRACT FROM AUTHOR]

Published
2016

46. HERBAL PLANTS PREPARATION FOR BIOFUEL AND ANALYSIS OF PELLETS PROPERTIES.

Author

Jasinskas, A., Streikus, D., Kučinskas, V., Vaitauskienė, K., Yilmaz, D., and Ziemelis, I.

Subjects
MEDICINAL plants, BIOMASS energy, INERTIAL confinement fusion, PLANT fibers, AGRICULTURAL productivity
Abstract

For research investigations were used the herbal unconventional energy plants - cup plant (Silphium perfolatium L.) and Virginia mallow (Sida hermaphrodita), which were grown in Lithuanian Research Centre for Agriculture and Forestry, and the knotweed (Reynoutria), which grew naturally in the forest glade. The productivity of these herbaceous plants are very high - 7-20 t ha-1 dry mass yield. Plants were cut by manual motorized chainsaw and chopped by drum chopper. Prepared chaff was milled by hummer mill and produced mill was granulated by small capacity granulator (250-300 kg ha-1). In presented work were determined investigated plant mill and pellet properties. After investigation of mill fractional composition was determined, that the smallest mill fraction was produced of milled knotweed plant stems: the biggest mill fraction accumulated on sieve with holes 0.25 mm diameter - 45.4 %, and dust - 46.7 %. The cup plants mill biggest fraction accumulated on sieve with holes 0.63 mm (37.6 %), Virginia mallows mill - on sieve with holes 0.5 mm (45.9 %). Also it was determined pellets quality parameters: humidity, density, ash content and calorific value. Determined biggest humidity was of knotweed - 22.3 %, it was too big, but produced knotweed pellets was sufficient hard and burning efficiency was a normal. The pellet density was significant high and ranged from 945.5 to 1072.3 kg m-3 dry matter (DM). The ash content of investigated plant pellets varied from 4.28 to 9.96 %, and was too high compared with wood. The average calorific value of investigated energy plants pellets varied from 16.8 to 17.7 MJ kg-1. Using laboratory equipment INSTRON 5960 were determined pellet disintegration force: the biggest force was for knotweed plant - 847 N, and about two times less for cup plant (463 N) and Virginia mallow (344 N). After analysis of test results it should be concluded, that knotweed pellets are sufficiently resistant to static force. [ABSTRACT FROM AUTHOR]

Published
2016

49. A novel intronic splice site tafazzingene mutation detected prenatally in a family with Barth syndrome

Author

Bakšienė, M, Benušienė, E, Morkūnienė, A, Ambrozaitytė, L, Utkus, A, and Kučinskas, V

Abstract

Barth syndrome (BTHS) is a rare X-linked disease characterized by dilated cardiomyopathy, proximal skeletal myopathy and cyclic neutropenia. It is caused by various mutations in the tafazzin (TAZ) gene located on Xq28 that results in remodeling of cardiolipin and abnormalities in mitochondria stability and energy production. Here we report on a novel c.285-1G>C splice site mutation in intron 3 of the TAZgene that was detected prenatally.

Published
2016
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