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1. Utility of trio-based exome sequencing in the elucidation of the genetic basis of isolated syndromic intellectual disability: illustrative cases

Author

Carneiro TNR, Krepischi ACV, Costa SS, Tojal da Silva I, Vianna-Morgante AM, Valieris R, Ezquina SAM, Bertola DR, Otto PA, and Rosenberg C

Subjects
exome, intellectual disability, next generation sequencing, Medicine (General), R5-920, Genetics, QH426-470
Abstract

Thaise NR Carneiro,1 Ana CV Krepischi,1 Silvia S Costa,1 Israel Tojal da Silva,2 Angela M Vianna-Morgante,1 Renan Valieris,2 Suzana AM Ezquina,1 Debora R Bertola,3 Paulo A Otto,1 Carla Rosenberg1 1Human Genome and Stem-Cell Research Center, Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo, São Paulo, Brazil; 2Laboratory of Computational Biology and Bioinformatics, International Research Center, A. C. Camargo Cancer Center, São Paulo, Brazil; 3Genetics Unit, Instituto da Criança, Hospital das Clínicas, Medical School, University of São Paulo, São Paulo, Brazil Introduction: Exome sequencing is recognized as a powerful tool for identifying the genetic cause of intellectual disability (ID). It is uncertain, however, whether only the exome of the proband should be sequenced or if the sequencing of parental genomes is also required, and the resulting increase in diagnostic yield justifies the increase in costs. Patients and methods: We sequenced the exomes of eight individuals with sporadic syndromic ID and their parents. Results and discussion: Likely pathogenic variants were detected in eight candidate genes, namely homozygous or compound heterozygous variants in three autosomal genes (ADAMTSL2, NALCN, VPS13B), one in an X-linked gene (MID1), and de novo heterozygous variants in four autosomal genes (RYR2, GABBR2, CDK13, DDX3X). Two patients harbored rare variants in two or more candidate genes, while in three other patients no candidate was identified. In five probands (62%), the detected variants explained their clinical findings. The causative recessive variants would have led to diagnosis even without parental exome sequencing, but for the heterozygous dominant ones, the exome trio-based approach was fundamental in the identification of the de novo likely pathogenic variants. Keywords: exome, intellectual disability, next-generation sequencing

Published
2018

2. State Estimation in Power Distribution Systems Based on Ensemble Kalman Filtering

Author

Carquex, C., Rosenberg, C., and Bhattacharya, K.

Subjects
Electrical Engineering and Systems Science - Signal Processing
Abstract

State estimation in power distribution systems is a key component for increased reliability and optimal system performance. Well understood in transmission systems, state estimation is now an area of active research in distribution networks. While several snapshot-based approaches have been used to solve this problem, few solutions have been proposed in a dynamic framework. In this paper, a Past-Aware State Estimation (PASE) method is proposed for distribution systems that takes previous estimates into account to improve the accuracy of the current one, using an Ensemble Kalman Filter. Fewer phasor measurements units (PMU) are needed to achieve the same estimation error target than snapshot-based methods. Contrary to current methods, the proposed solution does not embed power flow equations into the estimator. A theoretical formulation is presented to compute a priori the advantages of the proposed method vis-a-vis the state-of-the-art. The proposed approach is validated considering the 33-bus distribution system and using power consumption traces from real households.

Published
2017

3. Vacuum chambers for Swiss Light Source arcs

Author

Ganter, R., primary, Braschoss, P., additional, Braun, H.-H., additional, Buchmann, J., additional, Citterio, A., additional, Dehler, M., additional, Gaiffi, N., additional, Kirchgeorg, N., additional, Magjar, M., additional, Rosenberg, C., additional, Stephan, D., additional, Schulz, L., additional, Sieber, R., additional, Wang, X., additional, and Zandonella, A., additional

Published
2024
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4. Transcriptome of iPSC-derived neuronal cells reveals a module of co-expressed genes consistently associated with autism spectrum disorder

Author

Griesi-Oliveira, K., Fogo, M. S., Pinto, B. G. G., Alves, A. Y., Suzuki, A. M., Morales, A. G., Ezquina, S., Sosa, O. J., Sutton, G. J., Sunaga-Franze, D. Y., Bueno, A. P., Seabra, G., Sardinha, L., Costa, S. S., Rosenberg, C., Zachi, E. C., Sertie, A. L., Martins-de-Souza, D., Reis, E. M., Voineagu, I., and Passos-Bueno, M. R.

Published
2021
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5. State of Charge Evolution Equations for Flywheels

Author

Fooladivanda, D., Mancini, G., Garg, S., and Rosenberg, C.

Subjects
Computer Science - Systems and Control
Abstract

A mathematical state-of-charge evolution equation is present for Flywheel Energy Storage Systems.

Published
2014

6. Brief Report: Self-Injurious Behaviors in Preschool Children with Autism Spectrum Disorder Compared to Other Developmental Delays and Disorders

Author

Soke, G. N., Rosenberg, S. A., Rosenberg, C. R., Vasa, R. A., Lee, L.-C, and DiGuiseppi, C.

Abstract

We compared the prevalence of self-injurious behaviors (SIB) in preschoolers aged 30-68 months with autism spectrum disorder (ASD) (n = 691) versus other developmental delays and disorders (DD) (n = 977) accounting for sociodemographic, cognitive, and medical factors. SIB prevalence was higher in ASD versus all DD [adjusted odds-ratio (aOR) 2.13 (95% confidence interval (95% CI) 1.53, 2.97)]. In subgroup analyses, SIB prevalence was higher in ASD versus DD without ASD symptoms [aOR 4.42 (95% CI 2.66, 7.33)], but was similar between ASD and DD with ASD symptoms [aOR 1.09 (95% CI 0.68, 1.77)]. We confirmed higher prevalence of SIB in ASD versus DD, independent of confounders. In children with DD, SIB prevalence increased with more ASD symptoms. These findings are informative to clinicians, researchers, and policymakers.

Published
2018
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9. Factors Associated with Self-Injurious Behaviors in Children with Autism Spectrum Disorder: Findings from Two Large National Samples

Author

Soke, G. N., Rosenberg, S. A., Hamman, R. F., Fingerlin, T., Rosenberg, C. R., Carpenter, L., Lee, L. C., Giarelli, E., Wiggins, L. D., Durkin, M. S., Reynolds, A., and DiGuiseppi, C.

Abstract

In this study, we explored potential associations among self-injurious behaviors (SIB) and a diverse group of protective and risk factors in children with autism spectrum disorder from two databases: Autism and Developmental Disabilities Monitoring (ADDM) Network and the Autism Speaks-Autism Treatment Network (AS-ATN). The presence of SIB was determined from children's records in ADDM and a parent questionnaire in AS-ATN. We used multiple imputation to account for missing data and a non-linear mixed model with site as a random effect to test for associations. Despite differences between the two databases, similar associations were found; SIB were associated with developmental, behavioral, and somatic factors. Implications of these findings are discussed in relation to possible etiology, future longitudinal studies, and clinical practice.

Published
2017
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11. Early tumor shrinkage and response assessment according to mRECIST predict overall survival in hepatocellular carcinoma patients under sorafenib

Author

Öcal, Osman, Schinner, Regina, Schütte, Kerstin, de Toni, Enrico N., Loewe, Christian, van Delden, Otto, Vandecaveye, Vincent, Gebauer, Bernhard, Zech, Christoph J., Sengel, Christian, Bargellini, Irene, Gasbarrini, Antonio, Sangro, Bruno, Pech, Maciej, Malfertheiner, Peter, Ricke, Jens, Seidensticker, Max, Kettner, E., Amthauer, H., Cwikla, J., Walecki, J., Klümpen, H., Schott, E., Kolligs, F., Rosmorduc, O., Menu, Y., Leroy, V., Mayerle, J., Trumm, C., Bartenstein, P., Reiser, M., Berg, T., Moche, M., Bilbao, I., Gossner, L., Reimer, P., Popovic, P., Stabuc, B., Piasecki, P., Podgajny, Z., Sacco, R., Peck-Radosavljevic, M., Lammer, J., Maleux, G., Verslype, C., Rosenberg, C., Nitsche, D., Waldenberger, P., Vergniol, J., Cassinotto, C., Yalcin, S., Peynircioglu, B., Zavaglia, C., Rampoldi, A., Tran, A., Chevallier, P., Anty, R., Trautwein, C., Kuhl, C., Grazioli, L., Vogl, T., Trojan, J., Bartolozzi, C., Iezzi, R., Bronowicki, J. P., Palmer, D., Evans, J., Sharma, R., Weir, G., Hubner, R., Basu, B., Ross, P., Internal medicine, Apollo - University of Cambridge Repository, Kettner, E., Amthauer, H., Cwikla, J., Walecki, J., Klümpen, H., Schott, E., Kolligs, F., Rosmorduc, O., Menu, Y., Leroy, V., Mayerle, J., Trumm, C., Bartenstein, P., Reiser, M., Berg, T., Moche, M., Bilbao, I., Gossner, L., Reimer, P., Popovic, P., Stabuc, B., Piasecki, P., Podgajny, Z., Sacco, R., Peck-Radosavljevic, M., Lammer, J., Maleux, G., Verslype, C., Rosenberg, C., Nitsche, D., Waldenberger, P., Vergniol, J., Cassinotto, C., Yalcin, S., Peynircioglu, B., Zavaglia, C., Rampoldi, A., Tran, A., Chevallier, P., Anty, R., Trautwein, Christian, Kuhl, Christiane, Grazioli, L., Vogl, T., Trojan, J., Bartolozzi, C., Iezzi, R., Bronowicki, J. P., Palmer, D., Evans, J., Sharma, R., Weir, G., Hubner, R., Basu, B., Ross, P., Radiology and Nuclear Medicine, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, CCA -Cancer Center Amsterdam, Oncology, and CCA - Cancer Treatment and Quality of Life

Subjects
Male, Carcinoma, Hepatocellular, Radiological and Ultrasound Technology, Hepatocellular carcinoma, Settore MED/09 - MEDICINA INTERNA, Liver Neoplasms, R895-920, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, Antineoplastic Agents, General Medicine, Sorafenib, mRECIST, Medical physics. Medical radiology. Nuclear medicine, Early tumor shrinkage, Treatment Outcome, Oncology, Objective response, Humans, Radiology, Nuclear Medicine and imaging, RC254-282, Research Article, Retrospective Studies
Abstract

Cancer imaging 22, 1 (2022). doi:10.1186/s40644-021-00439-x, Published by BioMed Central, London

Published
2022
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12. Genetic and Molecular Analysis of Nod Factor Signalling in Medicago truncatula

Author

Debellé, F., Bres, C., Lévy, J., Ben Amor, B., Arrighi, JF., Maillet, F., Ane, JM., Rosenberg, C., Dénarié, J., Shaw, S., Oldroyd, G., Long, S., Penmetsa, R., Cook, D., Geurts, R., Bisseling, T., Duc, G., Gough, C., Wang, Yi-Ping, editor, Lin, Min, editor, Tian, Zhe-Xian, editor, Elmerich, Claudine, editor, and Newton, William E., editor

Published
2005
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15. Diffusion of Super-Gaussian Profiles

Author

Rosenberg, C.-J, Anderson, D., and Desaix, M.

Abstract

The present analysis describes an analytically simple and systematic approximation procedure for modelling the free diffusive spreading of initially super-Gaussian profiles. The approach is based on a self-similar ansatz for the evolution of the diffusion profile, and the parameter functions involved in the modelling are determined by suitable moments of the diffusion equation. The resulting approximate solutions provide an accurate description of the evolution of the initial profile into the Gaussian profile, which is the asymptotically exact solution of the diffusion problem for, in fact, arbitrary initial conditions. (Contains 2 figures.)

Published
2007
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17. Det ubemærkede

Author

Rosenberg, C.

Abstract

This article is a reflection on how resocialization in a low security ’open’ prison can be done. By focusing on the unnoticed, the analytical method I make use of here, I become aware of how resocialization is done in the interactions between prison inmates and employees. The article attempts to address how resocialization work in a low security ‘open’ prison can pass unnoticed and be difficult to describe. My purpose with the article is to create insight into additional ways the understanding of profession can express itself. The research takes its point of departure in a Norwegian low-security ‘open’ prison and is based on qualitative empirical material consisting of interviews, shadowing of employees, and ethnographic fieldwork. First, I will describe some of the informal relationships that arise in the formal forums and relational spaces of a prison, and how they may affect the creation of the framework for resocialization work when the prison has a focus on both the individuals and the community in their efforts to bring about lasting changes for the inmates. Then I will focus on how the prison employees make use of their knowledge of the criminal offences of the inmates in order to create a framework for change for them. My main theoretical framework is Deleuze and Guattari’s (Deleuze & Guattari, 2005) understandings of how space for change can be created.

Published
2020

22. Rhizobium Nodulation Factors: Variations on a Theme

Author

Demont, N., Roche, P., Aurelle, H., Talmont, F., Prome, D., Prome, J. C., Price, N. P. J., Relic, B., Broughton, W. J., Debelle, F., Ardourel, M. Y., Maillet, F., Rosenberg, C., Truchet, G., Denarie, J., Bliss, F. A., editor, Nester, Eugene W., editor, and Verma, Desh Pal S., editor

Published
1993
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23. Centrocytic Lymphoma: a B-Cell Non-Hodgkin’s Lymphoma Characterized by Chromosome 11 BCL-1 and PRAD 1 Rearrangements

Author

Williams, M. E., Swerdlow, S. H., Rosenberg, C. L., Arnold, A., Capron, A., editor, Compans, R. W., editor, Cooper, M., editor, Koprowski, H., editor, McConnell, I., editor, Melchers, F., editor, Oldstone, M., editor, Olsnes, S., editor, Potter, M., editor, Saedler, H., editor, Vogt, P. K., editor, Wagner, H., editor, Wilson, I., editor, Potter, Michael, editor, and Melchers, Fritz, editor

Published
1992
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24. Dapagliflozin and cardiovascular outcomes in type 2 diabetes

Author

Wiviott, S, Raz, I, Bonaca, M, Mosenzon, O, Kato, E, Cahn, A, Silverman, M, Zelniker, T, Kuder, J, Murphy, S, Bhatt, D, Leiter, L, Mcguire, D, Wilding, J, Ruff, C, Nilsson, G, Fredriksson, M, Johansson, P, Langkilde, A, Sabatine, M, Bansilal, S, Furtado, R, Fish, M, Gabovitch, D, Jevne, A, Ahern, S, Im, K, Goodrich, E, Lowe, C, Fisher, N, Gannon, J, Trindade, S, Towarowski, A, Fox, Y, Johnsson, E, Ranft, S, Faber, B, Wallander, M, Weiss, A, Buskila, A, Abola, M, Ardissino, D, Averkov, O, Aylward, P, Bode, C, Bonnici, F, Bonora, E, Budaj, A, Cernea, S, Chiang, C, Cooper, M, Dalby, A, Deerochanawong, C, Dellborg, M, Diaz, R, Dimulescu, D, Eliaschewitz, F, Goudev, A, Hadjadj, S, Herrera, M, Huo, Y, Jermendy, G, Ji, L, Kadowaki, T, Kiss, R, Kooy, A, Kumar, K, Lewis, B, Litwak, L, Lopez-Sendon, J, Ma, R, Merlini, P, Nauck, M, Nguyen, T, Nicolau, J, Ostgren, C, Ophuis, T, Padilla, F, Pais, P, Park, K, Parkhomenko, A, Ray, K, Rosenstock, J, Ruda, M, Satman, I, Shestakova, M, Smahelova, A, Spinar, J, Strojek, K, Sy, R, Tankova, T, Theroux, P, Tkac, I, Van Gaal, L, Wainstein, J, Harrington, R, Droller, M, Lee, K, Nesto, R, Tuomilehto, J, Hedlin, H, Desai, M, Sayfer, I, Alexanian, S, Awtry, E, Bentley-Lewis, R, Berger, C, Croce, K, Desai, A, Garg, R, Gelfand, E, Gignac, G, Goessling, W, Ho, C, Hochberg, E, Lane, A, Larrey, D, Leeman, D, Lewis, J, Link, M, Mcdonnell, M, Norden, A, Pande, A, Rosenberg, C, Rost, N, Ruberg, F, Schiff, E, Silverman, S, Singhal, A, Wagner, A, Wolpin, B, Aizenberg, D, Fernandez, M, Sala, J, Maffei, L, Luquez, C, Waitman, J, Rista, L, Nardone, L, Sposetti, G, Cantero, M, Alvarisqueta, A, Montana, O, Cuadrado, J, Cartasegna, L, Baccaro, C, Chertkoff, A, Sanabria, H, Vainstein, N, Amerena, J, Arya, K, D'Emden, M, Proietto, J, Moses, R, Colquhoun, D, Stranks, S, Lehman, R, Hamilton, A, Whelan, A, Simpson, R, Purnell, P, Abhayaratna, W, Hammett, C, Mckeirnan, M, Sullivan, D, Bach, L, Hughes, K, Mathieu, C, Vercammen, C, Scheen, A, Duyck, F, Cools, F, De Wolf, L, Verhaegen, A, Nobels, F, Missault, L, Crenier, L, Thoeng, J, Wollaert, B, Vandenbroucke, M, Borges, J, Turatti, L, Lima, F, dos Santos, F, Kerr Saraiva, J, Pereira, M, Pereira, A, Precoma, D, Filho, G, Reis, G, Maia, L, Bacheva, T, Temelkova-Kurktschiev, T, Maneva, S, Stoyanovska, B, Boshnyashka, R, Stoykova, Y, Georgiev, D, Tagarev, Z, Dimitrova, E, Vitkina, M, Yordanova, L, Temelkova, M, Vasileva, S, Kuneva, T, Zyumbyuleva, M, Daskalova, I, Genadieva, V, Boyanov, L, Farah, G, Lazarova, G, Georgieva, M, Krasteva, S, Slavcheva, A, Yabroudi, N, Veleva, N, Zlateva, A, Damyanova, V, Elenkova, A, Kotselova, T, Genov, K, Lyubenova, L, Temelkova, N, Harizanova, B, Zaharieva, S, Bajaj, H, Goldenberg, R, Aronson, R, Twum-Barima, D, Dumas, R, Kouz, S, Kaiser, S, Ajala, B, Cha, J, Teitelbaum, I, Chouinard, G, Woo, V, Dan Dattani, I, Mazza, G, Gaudet, D, Poirier, P, Conway, J, Dion, D, Mckeough, M, Manyari, D, Harris, S, St-Pierre, B, Yale, J, Landry, D, Gupta, M, Hramiak, I, Lau, D, Degrace, M, Gallo, R, Montigny, M, Dzongowski, P, Liutkus, J, Frechette, A, Gosselin, G, Sabbah, E, Langlois, M, Rabasa-Lhoret, R, Bedard, J, Hart, R, Dowell, A, Pandey, A, O'Keefe, D, Hill, L, Weisnagel, S, Muirhead, N, Zimmermann, R, Galiwango, P, Tobe, S, Priestman, B, Zinman, B, Ma, J, Zhao, X, Wang, C, Zhang, A, Dong, Y, Dong, X, Luo, M, Guo, J, Zheng, Z, Li, Y, Liang, Y, Peng, D, Maderic, D, Spinarova, L, Raclavska, L, Ludka, O, Rihacek, I, Karasova, J, Pelikanova, M, Vlasakova, H, Urbancova, K, Zamrazil, V, Hradec, J, Vlasicova, H, Racicka, E, Okenka, L, Naplava, R, Skopecek, J, Palova, S, Krystl, T, Pistek, Z, Oznerova, M, Andresova, A, Sarbochova, R, Taborska, P, Petrova, I, Stanek, L, Reichert, P, Lorenc, Z, Szabo, M, Petit, C, Krempf, M, Boye, A, Dubois, S, Clavel, S, Gourdy, P, Elbaz, M, Jazayeri, S, Gouet, D, Verges, B, Couffinhal, T, Sendeski, M, Klausmann, G, Appel, K, Pein, M, Thieme, R, Schumm-Draeger, P, Jacob, S, Toursarkissian, N, Kleinecke-Pohl, U, Tschope, D, Ott, P, Haak, T, Derwahl, K, Bugger, H, Hui, G, Tsang, C, Zilahi, Z, Puski, L, Vangel, S, Fulop, T, Pall, K, Hidvegi, T, Revesz, K, Koranyi, L, Kajetan, M, Kerenyi, Z, Penzes, J, Herczeg, B, Laszloczky, A, Turi, T, Rapi, J, Pentek, Z, Gaal, Z, Winkler, G, Percs, E, Czigany, A, Harcsa, E, Gurzo, M, Tassaly, J, Horthy, R, Petro, G, Farago, K, Muller, G, Varju, I, Kirschner, R, Kiss, I, Bakai, J, Kancz, S, Marton, Z, Kodur, R, Yajnik, C, Thomas, N, Ayyar, V, Iyengar, P, Bashkin, A, Daoud, D, Itzhak, B, Katz, A, Tsur, A, Nikolsky, E, Atar, S, Grossman, A, Klainman, E, Tsalihin, D, Shotan, A, Turgeman, Y, Ferrario, M, Piatti, P, Zenari, L, Trevisan, R, Bosco, B, Di Lorenzo, L, Mannucci, E, Avogaro, A, Reimers, B, Trimarco, B, Silvestri, O, Salvioni, A, Nakagawa, H, Sueyoshi, A, Fukuda, K, Yasumoto, H, Matsubayashi, S, Kawajiri, K, Togashi, Y, Senokuchi, T, Ohta, Y, Yamauchi, T, Node, K, Alcocer Gamba, M, Herrera Marmolejo, M, De los Rios Ibarra, M, Gonzalez Galvez, G, Garcia Cantu, E, Leguizamo Dimas, A, Luna Ceballos, R, Medina Pech, C, Stobschinski de Alba, C, Gonzalez Gonzalez, J, Padilla Padilla, F, Fanghanel Salmon, G, Robles Torres, F, Lopez Rosas, E, Pelayo Orozco, E, Banda Elizondo, R, Escalona Caamano, A, Frenk Baron, P, Aguilar Salinas, C, Mustieles Rocha, C, Vidrio Velazquez, M, Rodriguez Briones, I, Saldate Alonso, M, Velasco Sanchez, R, Groenemeijer, B, Ronner, E, Kuijper, A, Strikwerda, S, Van Kempen, W, Gijsbers, S, Oude Ophuis, A, Swart, H, Hoogenberg, K, Hovens, M, van Hessen, M, Westerink, J, Kragten, J, Nierop, P, Bax, W, Hartong, S, Nieuwdorp, M, Gonkel, F, Al Windy, N, Troquay, R, Schaafsma, H, Lieverse, A, Knufman, N, Tirador, L, Guenon, M, Ferrolino, A, Atilano, A, Aportadera, M, Que, M, Denopol, M, Tolentino, M, Jimeno, C, Wee, J, Mirasol, R, Panelo, A, Roxas, D, Palmes, P, Silva, A, Salvador, D, Rosita, R, Maravilla, L, Rogelio, G, Pacheco, E, Tin Hay, L, Prado, J, Krzyzagorska, E, Witek, R, Miklaszewicz, B, Sudnik, W, Pomiecko, W, Bochenek, A, Fares, I, Wujkowski, M, Korol, M, Powierza, S, Goch, A, Miekus, P, Siegel, A, Skierkowska, J, Romanczuk, P, Cygler, J, Landa, K, Szyprowska, E, Stachlewski, P, Czerski, T, Pawlowicz, L, Sowinski, D, Romanowski, L, Rudzki, H, Skorski, M, Jasiel-Wojculewicz, H, Stasiewski, A, Kania, G, Mirek-Bryniarska, E, Wojnowski, L, Korzeniak, R, Oh, T, Lee, M, Jang, H, Kim, S, Ku, B, Cha, B, Son, H, Lee, I, Park, J, Yu, S, Shon, H, Rhee, E, Cho, J, Park, T, Nam, J, Pintilei, E, Popescu, A, Nafornita, V, Gutu, O, Dumitrescu, A, Bala, C, Caceaune, E, Mindrescu, N, Morosanu, M, Bradescu, O, Munteanu, M, Voitec, M, Vlaiculescu, M, Hancu, N, Diaconu Sotropa, M, Lupu, S, Mateescu, A, Carlan, L, Marton, R, Lupusoru, D, Mot, A, Coman, A, Zaharie, D, Rebrov, A, Shutemova, E, Bolieva, L, Khalimov, Y, Statsenko, M, Galyavich, A, Koziolova, N, Shapovalova, Y, Pavlysh, E, Strongin, L, Vertkin, A, Vishneva, E, Pavlova, M, Khasanov, N, Antsiferov, M, Gavrisheva, I, Sokolova, N, Vorobyev, S, Morugova, T, Sinitsina, I, Ezhov, A, Kobalava, Z, Belenkiy, D, Supryadkina, T, Kazakov, Y, Oschepkova, E, Dreval, A, Novikova, T, Vishnevsky, A, Chizhov, D, Akatova, E, Vorokhobina, N, Ivanov, I, Dudinskaya, E, Konstantinov, V, Kanderkova, D, Pavlik, L, Raslova, K, Paulovic, V, Babikova, J, Belesova, K, Merciakova, M, Truban, J, Vargova, A, Fabryova, L, Slovenska, M, Plasil, R, Tomasova, L, Kollarova, D, Spodniakova, D, Kosikova, M, Dzuponova, J, Kurcova, I, Skripova, D, Gabrisova, A, Kalinova, S, Ranjith, N, Burgess, L, Mitha, I, Conradie, M, Distiller, L, Pillai, P, Pillay, S, Horak, A, Nethononda, R, van den Berg, E, Nortje, H, Bayat, J, Corbett, C, Abelson, M, van Zyl, L, Pillay, T, Wing, J, Kapp, C, Hidalgo Urbano, R, Gonzalez Juanatey, J, Blanco Coronado, J, Bruguera Cortada, J, Ferreiro Gutierrez, J, Quesada Simon, M, Castro, A, Delgado Alvarez, E, Freixa, R, Boada, A, Larnefeldt, H, Mooe, T, Koskinen, P, Lagerback, P, Linderfalk, C, Liu, B, Berndtsson Blom, K, Tengmark, B, Lindholm, C, Oweling, M, Albertsson, P, Alvarsson, M, Fant, S, Berglund, O, Hsia, C, Fang, C, Ueng, K, Wang, K, Lai, W, Mamanasiri, S, Wongvipaporn, C, Kuanprasert, S, Thongsri, T, Srimahachota, S, Boonyavarakul, A, Suwanwalaikorn, S, Tantiwong, P, Sritara, P, Sriwijitkamol, A, Sanguanwong, S, Chotinaiwattarakul, C, Piyayotai, D, Balci, M, Orbay, E, Saygili, F, Oguz, A, Altuntas, Y, Comlekci, A, Karpenko, O, Tkach, S, Vlasenko, M, Fushtey, I, Pertseva, T, Reshotko, D, Mostovoy, Y, Vizir, V, Kraiz, I, Amosova, K, Batushkin, V, Tseluyko, V, Koval, O, Strang, C, Bodalia, B, Pieters, R, Turner, W, Asamoah-Owusu, N, White, C, Calvert, J, Mcnally, D, Jones, N, Mckaig, G, Thompson, J, Mohr, S, Simpson, H, Conn, P, Mccoye, A, Rivero, O, Yazdani, S, Ince, C, Zeitlin, J, Wharton, T, Platt, G, Anderson, R, Angueira-Serrano, E, Lillestol, M, Hanlon, B, Soufer, J, Garcia, B, Iteld, B, Venugopal, C, Ahmed, A, Duardo-Guerra, Y, Jetty, P, Miranda, A, Wahlen, J, Lederman, S, Cohen, K, Lake, L, French, W, Tahirkheli, N, Baker, 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Laszloczky A., Turi T., Rapi J., Pentek Z., Gaal Z., Winkler G., Percs E., Czigany A., Harcsa E., Gurzo M., Tassaly J., Horthy R., Petro G., Farago K., Muller G., Varju I., Kirschner R., Kiss I., Bakai J., Kancz S., Marton Z., Kodur R., Yajnik C., Thomas N., Ayyar V., Iyengar P., Bashkin A., Daoud D., Itzhak B., Katz A., Tsur A., Nikolsky E., Atar S., Grossman A., Klainman E., Tsalihin D., Shotan A., Turgeman Y., Ferrario M., Merlini P., Piatti P., Zenari L., Trevisan R., Bosco B., Di Lorenzo L., Mannucci E., Avogaro A., Reimers B., Trimarco B., Silvestri O., Salvioni A., Nakagawa H., Sueyoshi A., Fukuda K., Yasumoto H., Matsubayashi S., Kawajiri K., Togashi Y., Senokuchi T., Ohta Y., Yamauchi T., Node K., Alcocer Gamba M., Herrera Marmolejo M., De los Rios Ibarra M., Gonzalez Galvez G., Garcia Cantu E., Leguizamo Dimas A., Luna Ceballos R., Medina Pech C., Stobschinski de Alba C., Gonzalez Gonzalez J., Padilla Padilla F., Fanghanel Salmon G., Robles Torres F., Lopez Rosas E., Pelayo Orozco E., Banda Elizondo R., Escalona Caamano A., Frenk Baron P., Aguilar Salinas C., Mustieles Rocha C., Vidrio Velazquez M., Rodriguez Briones I., Saldate Alonso M., Velasco Sanchez R., Groenemeijer B., Ronner E., Kuijper A., Strikwerda S., Van Kempen W., Gijsbers S., Oude Ophuis A., Swart H., Hoogenberg K., Hovens M., van Hessen M., Westerink J., Kragten J., Nierop P., Bax W., Hartong S., Nieuwdorp M., Gonkel F., Al Windy N., Troquay R., Schaafsma H., Lieverse A., Knufman N., Tirador L., Guenon M., Ferrolino A., Atilano A., Aportadera M., Que M., Denopol M., Tolentino M., Jimeno C., Wee J., Mirasol R., Panelo A., Roxas D., Abola M., Palmes P., Silva A., Salvador D., Rosita R., Maravilla L., Rogelio G., Pacheco E., Tin Hay L., Prado J., Krzyzagorska E., Witek R., Miklaszewicz B., Sudnik W., Pomiecko W., Bochenek A., Fares I., Wujkowski M., Korol M., Powierza S., Goch A., Miekus P., Siegel A., Skierkowska J., Romanczuk P., Cygler J., Landa K., Szyprowska E., Stachlewski P., Czerski T., Pawlowicz L., Sowinski D., Romanowski L., Rudzki H., Skorski M., Jasiel-Wojculewicz H., Stasiewski A., Budaj A., Kania G., Mirek-Bryniarska E., Wojnowski L., Korzeniak R., Oh T., Park K., Lee M., Lee K., Jang H., Kim S., Ku B., Cha B., Son H., Lee I., Park J., Yu S., Shon H., Rhee E., Cho J., Park T., Nam J., Pintilei E., Popescu A., Nafornita V., Gutu O., Dumitrescu A., Bala C., Caceaune E., Mindrescu N., Morosanu M., Bradescu O., Munteanu M., Voitec M., Vlaiculescu M., Hancu N., Diaconu Sotropa M., Lupu S., Mateescu A., Carlan L., Marton R., Lupusoru D., Mot A., Coman A., Zaharie D., Rebrov A., Shutemova E., Bolieva L., Khalimov Y., Statsenko M., Galyavich A., Koziolova N., Shapovalova Y., Pavlysh E., Strongin L., Vertkin A., Vishneva E., Pavlova M., Khasanov N., Antsiferov M., Gavrisheva I., Sokolova N., Vorobyev S., Morugova T., Sinitsina I., Ezhov A., Kobalava Z., Belenkiy D., Supryadkina T., Kazakov Y., Oschepkova E., Dreval A., Novikova T., Vishnevsky A., Chizhov D., Akatova E., Vorokhobina N., Ivanov I., Dudinskaya E., Konstantinov V., Kanderkova D., Pavlik L., Raslova K., Paulovic V., Babikova J., Belesova K., Merciakova M., Truban J., Vargova A., Fabryova L., Slovenska M., Plasil R., Tomasova L., Kollarova D., Spodniakova D., Kosikova M., Dzuponova J., Kurcova I., Skripova D., Gabrisova A., Kalinova S., Ranjith N., Burgess L., Mitha I., Conradie M., Distiller L., Pillai P., Pillay S., Horak A., Nethononda R., van den Berg E., Nortje H., Bayat J., Corbett C., Abelson M., van Zyl L., Pillay T., Wing J., Kapp C., Hidalgo Urbano R., Gonzalez Juanatey J., Blanco Coronado J., Bruguera Cortada J., Ferreiro Gutierrez J., Quesada Simon M., Castro A., Delgado Alvarez E., Freixa R., Boada A., Larnefeldt H., Mooe T., Koskinen P., Lagerback P., Linderfalk C., Liu B., Berndtsson Blom K., Tengmark B., Lindholm C., Ostgren C., Oweling M., Albertsson P., Alvarsson M., Fant S., Berglund O., Hsia C., Chiang C., Fang C., Ueng K., Wang K., Lai W., Mamanasiri S., Wongvipaporn C., Kuanprasert S., Thongsri T., Srimahachota S., Boonyavarakul A., Suwanwalaikorn S., Tantiwong P., Sritara P., Sriwijitkamol A., Sanguanwong S., Chotinaiwattarakul C., Piyayotai D., Balci M., Orbay E., Saygili F., Oguz A., Altuntas Y., Comlekci A., Karpenko O., Tkach S., Vlasenko M., Fushtey I., Pertseva T., Reshotko D., Mostovoy Y., Vizir V., Kraiz I., Amosova K., Batushkin V., Tseluyko V., Koval O., Strang C., Bodalia B., Pieters R., Turner W., Asamoah-Owusu N., White C., Calvert J., McNally D., Jones N., McKaig G., Thompson J., Mohr S., Simpson H., Conn P., McCoye A., Rivero O., Yazdani S., Ince C., Zeitlin J., Wharton T., Platt G., Anderson R. J., Angueira-Serrano E., Lillestol M., Hanlon B., Soufer J., Garcia B., Iteld B., Venugopal C., Ahmed A., Duardo-Guerra Y., Jetty P., Miranda A., Wahlen J., Lederman S., Cohen K., Lake L., French W. J., Tahirkheli N., Baker S., Stoltz R., Wilson J., Nadar V., Brown J., Larrain G., Wiseman A., Ruoff G., Williams M., Tan A., Hartman I., Singh N., Graf R., Wakefield P., McNeill R., Byars W., Reyes Almodovar R., Jones S., Kantaros L., Hegedosh N., Graves M., Bernstein M., Falkowski S., Bialow M., Paraschos A., Dagher G., Arif A., Condit J., Chaykin L., Grunstra B., Earl J., Unks D., Srivastava S., Benson M., Huffman C., Miller G., Willis J., Bender K., Martin E., Blackmore R., Rohr K., Chilka S., Gadowski G., Fitz-Patrick D., Benjamin S., Morin D., Zias Dilena A., Acosta R., Claassen D., Miranda F., Raad G., Inzerello A., Porter J., Bhattacharya A., Gutmann J., Korpas D., Syed M., Zieve F., Raisinghani A., Alam S., Bartkowiak A., Boccalandro F., Talano J., Mercado A., Krichmar P., Oldfield C., Adams K., Gorman T., Lewis D., Shah R., Shockey G., Lefebvre G., Andrawis N., Tami L., Bittar N., Khan M. S., Rink L., Hendrix E., Wood J., Robinson J., Pavon H., Irfan M., Gonzalez E., Singal R., Shore K., Saba F., Bianco J., Erickson B., Gorson D., Puri S., Arauz-Pacheco C., Forman S., Akyea-Djamson A., Lieber I., Barker B., Desai P., Sotolongo C., Steinhoff J., Hill R., Radin M., Patel R., Lieberman S., Wenocur H., Dagogo-Jack S., Lupovitch S., Ison R., Bacharach J. M., Diogo J., Mazzella M., Greenwald J., Quadrel M., Mayer N., Datu J., McCartney M., Bruce T., Singal D., Turner J., Videau B., Fritz R., Fox D., Calatayud G., Sheldon W., Kereiakes D., Thomas J., Salacata A., McCullum K., Harris B., de Souza J., Rahman A., Blumenthal S., Narayan P., Bloch M., Augenbraun C., Bernstein R., Perlman R., Berman J., LaBryer L., Wynne A., Fish J., Zarich S., Gabra N., Popeil L., Hermany P., Barreto A., Pomposini D., Gonzalez-Campoy J. M., Langer M., Bayron C., Suneja R., Kamlet J., Wheeler K., Hurley S., Sharma S., Wefald F., Hershon K., O'Connor T., Pueblitz G., Laguerre J., Amin M., Alfonso T., Jaffrani N., Isserman S., Portnay E., Vlastaris A., Dy J., Hagan M., Noveck H., Kraft P., Andersen J., Foley B., Carr K., Gelormini J., Williams T., Landau C., Richwine R., Thakkar M., Karim A., Madhun Z., Francyk D., Lamantia J., Baker B., Zhang W., Lev V., Hasan M., Captain A., Herzog W., Friedman K., Lawson W., Desai V., Ow C., Simons R., Mandviwala M., Le T., Hack T., Zebrack J., Henderson D., DeJulia J., Mehta R., Reza S., Poonawala R., Awad A., Velasquez M., Mohiuddin S., Salazar Sharma M., Myrick G., Gottlieb D., Ovalle F., Alfieri A., Ahmed S., Bohula E., Donahoe S. M., Longshaw K., Eshaghian S., Lash J., Goldberg R. K., Fox B., Mostel E., Dobies D., Ward H., Burbano J., Puleo P., Lenhard M. J., Korn D., Thadani U., Bradley A., Kmetzo J., Heasley E., Raikhel M., Mahr N., Bittar G., Fuentes F., Raghu P., Diep T. T. B., Tran Q. K., Tran N., Nguyen D., and Nguyen V.

Abstract

BACKGROUND The cardiovascular safety profile of dapagliflozin, a selective inhibitor of sodium-glucose cotransporter 2 that promotes glucosuria in patients with type 2 diabetes, is undefined. METHODS We randomly assigned patients with type 2 diabetes who had or were at risk for atherosclerotic cardiovascular disease to receive either dapagliflozin or placebo. The primary safety outcome was a composite of major adverse cardiovascular events (MACE), defined as cardiovascular death, myocardial infarction, or ischemic stroke. The primary efficacy outcomes were MACE and a composite of cardiovascular death or hospitalization for heart failure. Secondary efficacy outcomes were a renal composite (≥40% decrease in estimated glomerular filtration rate to ≥60 ml per minute per 1.73 m2 of body-surface area, new end-stage renal disease, or death from renal or cardiovascular causes) and death from any cause. RESULTS We evaluated 17,160 patients, including 10,186 without atherosclerotic cardiovascular disease, who were followed for a median of 4.2 years. In the primary safety outcome analysis, dapagliflozin met the prespecified criterion for noninferiority to placebo with respect to MACE (upper boundary of the 95% confidence interval [CI], ≥1.3; P≥0.001 for noninferiority). In the two primary efficacy analyses, dapagliflozin did not result in a lower rate of MACE (8.8% in the dapagliflozin group and 9.4% in the placebo group; hazard ratio, 0.93; 95% CI, 0.84 to 1.03; P = 0.17) but did result in a lower rate of cardiovascular death or hospitalization for heart failure (4.9% vs. 5.8%; hazard ratio, 0.83; 95% CI, 0.73 to 0.95; P = 0.005), which reflected a lower rate of hospitalization for heart failure (hazard ratio, 0.73; 95% CI, 0.61 to 0.88); there was no between-group difference in cardiovascular death (hazard ratio, 0.98; 95% CI, 0.82 to 1.17). A renal event occurred in 4.3% in the dapagliflozin group and in 5.6% in the placebo group (hazard ratio, 0.76; 95% CI, 0.67 to 0.87)

Published
2019

25. Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders

Author

Wang T., Hoekzema K., Vecchio D., Wu H., Sulovari A., Coe B. P., Gillentine M. A., Wilfert A. B., Perez-Jurado L. A., Kvarnung M., Sleyp Y., Earl R. K., Rosenfeld J. A., Geisheker M. R., Han L., Du B., Barnett C., Thompson E., Shaw M., Carroll R., Friend K., Catford R., Palmer E. E., Zou X., Ou J., Li H., Guo H., Gerdts J., Avola E., Calabrese G., Elia M., Greco D., Lindstrand A., Nordgren A., Anderlid B. -M., Vandeweyer G., Van Dijck A., Van der Aa N., McKenna B., Hancarova M., Bendova S., Havlovicova M., Malerba G., Bernardina B. D., Muglia P., van Haeringen A., Hoffer M. J. V., Franke B., Cappuccio G., Delatycki M., Lockhart P. J., Manning M. A., Liu P., Scheffer I. E., Brunetti Pierri N., Rommelse N., Amaral D. G., Santen G. W. E., Trabetti E., Sedlacek Z., Michaelson J. J., Pierce K., Courchesne E., Kooy R. F., Acampado J., Ace A. J., Amatya A., Astrovskaya I., Bashar A., Brooks E., Butler M. E., Cartner L. A., Chin W., Chung W. K., Daniels A. M., Feliciano P., Fleisch C., Ganesan S., Jensen W., Lash A. E., Marini R., Myers V. J., O'Connor E., Rigby C., Robertson B. E., Shah N., Shah S., Singer E., Snyder L. A. G., Stephens A. N., Tjernagel J., Vernoia B. M., Volfovsky N., White L. C., Hsieh A., Shen Y., Zhou X., Turner T. N., Bahl E., Thomas T. R., Brueggeman L., Koomar T., Michael R. J., O'Roak B. J., Barnard R. A., Gibbs R. A., Muzny D., Sabo A., Ahmed K. L. B., Eichler E. E., Siegel M., Abbeduto L., Hilscher B. A., Li D., Smith K., Thompson S., Albright C., Butter E. M., Eldred S., Hanna N., Jones M., Coury D. L., Scherr J., Pifher T., Roby E., Dennis B., Higgins L., Brown M., Alessandri M., Gutierrez A., Hale M. N., Herbert L. M., Schneider H. L., David G., Annett R. D., Sarver D. E., Arriaga I., Camba A., Gulsrud A. C., Haley M., McCracken J. T., Sandhu S., Tafolla M., Yang W. S., Carpenter L. A., Bradley C. C., Gwynette F., Manning P., Shaffer R., Thomas C., Bernier R. A., Fox E. A., Gerdts J. A., Pepper M., Ho T., Cho D., Piven J., Lechniak H., Soorya L. V., Gordon R., Wainer A., Yeh L., Ochoa-Lubinoff C., Russo N., Berry-Kravis E., Booker S., Erickson C. A., Prock L. M., Pawlowski K. G., Matthews E. T., Brewster S. J., Hojlo M. A., Abada E., Lamarche E., Murali S. C., Harvey W. T., Kaplan H. E., Pierce K. L., DeMarco L., Horner S., Pandey J., Plate S., Sahin M., Riley K. D., Carmody E., Constantini J., Esler A., Fatemi A., Hutter H., Landa R. J., McKenzie A. P., Neely J., Singh V., Van Metre B., Wodka E. L., Fombonne E. J., Huang-Storms L. Y., Pacheco L. D., Mastel S. A., Coppola L. A., Francis S., Jarrett A., Jacob S., Lillie N., Gunderson J., Istephanous D., Simon L., Wasserberg O., Rachubinski A. L., Rosenberg C. R., Kanne S. M., Shocklee A. D., Takahashi N., Bridwell S. L., Klimczac R. L., Mahurin M. A., Cotrell H. E., Grant C. A., Hunter S. G., Martin C. L., Taylor C. M., Walsh L. K., Dent K. A., Mason A., Sziklay A., Smith C. J., Nordenskjold M., Romano C., Peeters H., Gecz J., Xia K., SPARK Consortium, Wang, T., Hoekzema, K., Vecchio, D., Wu, H., Sulovari, A., Coe, B. P., Gillentine, M. A., Wilfert, A. B., Perez-Jurado, L. A., Kvarnung, M., Sleyp, Y., Earl, R. K., Rosenfeld, J. A., Geisheker, M. R., Han, L., Du, B., Barnett, C., Thompson, E., Shaw, M., Carroll, R., Friend, K., Catford, R., Palmer, E. E., Zou, X., Ou, J., Li, H., Guo, H., Gerdts, J., Avola, E., Calabrese, G., Elia, M., Greco, D., Lindstrand, A., Nordgren, A., Anderlid, B. -M., Vandeweyer, G., Van Dijck, A., Van der Aa, N., Mckenna, B., Hancarova, M., Bendova, S., Havlovicova, M., Malerba, G., Bernardina, B. D., Muglia, P., van Haeringen, A., Hoffer, M. J. V., Franke, B., Cappuccio, G., Delatycki, M., Lockhart, P. J., Manning, M. A., Liu, P., Scheffer, I. E., Brunetti Pierri, N., Rommelse, N., Amaral, D. G., Santen, G. W. E., Trabetti, E., Sedlacek, Z., Michaelson, J. J., Pierce, K., Courchesne, E., Kooy, R. F., Acampado, J., Ace, A. J., Amatya, A., Astrovskaya, I., Bashar, A., Brooks, E., Butler, M. E., Cartner, L. A., Chin, W., Chung, W. K., Daniels, A. M., Feliciano, P., Fleisch, C., Ganesan, S., Jensen, W., Lash, A. E., Marini, R., Myers, V. J., O'Connor, E., Rigby, C., Robertson, B. E., Shah, N., Shah, S., Singer, E., Snyder, L. A. G., Stephens, A. N., Tjernagel, J., Vernoia, B. M., Volfovsky, N., White, L. C., Hsieh, A., Shen, Y., Zhou, X., Turner, T. N., Bahl, E., Thomas, T. R., Brueggeman, L., Koomar, T., Michael, R. J., O'Roak, B. J., Barnard, R. A., Gibbs, R. A., Muzny, D., Sabo, A., Ahmed, K. L. B., Eichler, E. E., Siegel, M., Abbeduto, L., Hilscher, B. A., Li, D., Smith, K., Thompson, S., Albright, C., Butter, E. M., Eldred, S., Hanna, N., Jones, M., Coury, D. L., Scherr, J., Pifher, T., Roby, E., Dennis, B., Higgins, L., Brown, M., Alessandri, M., Gutierrez, A., Hale, M. N., Herbert, L. M., Schneider, H. L., David, G., Annett, R. D., Sarver, D. E., Arriaga, I., Camba, A., Gulsrud, A. C., Haley, M., Mccracken, J. T., Sandhu, S., Tafolla, M., Yang, W. S., Carpenter, L. A., Bradley, C. C., Gwynette, F., Manning, P., Shaffer, R., Thomas, C., Bernier, R. A., Fox, E. A., Gerdts, J. A., Pepper, M., Ho, T., Cho, D., Piven, J., Lechniak, H., Soorya, L. V., Gordon, R., Wainer, A., Yeh, L., Ochoa-Lubinoff, C., Russo, N., Berry-Kravis, E., Booker, S., Erickson, C. A., Prock, L. M., Pawlowski, K. G., Matthews, E. T., Brewster, S. J., Hojlo, M. A., Abada, E., Lamarche, E., Murali, S. C., Harvey, W. T., Kaplan, H. E., Pierce, K. L., Demarco, L., Horner, S., Pandey, J., Plate, S., Sahin, M., Riley, K. D., Carmody, E., Constantini, J., Esler, A., Fatemi, A., Hutter, H., Landa, R. J., Mckenzie, A. P., Neely, J., Singh, V., Van Metre, B., Wodka, E. L., Fombonne, E. J., Huang-Storms, L. Y., Pacheco, L. D., Mastel, S. A., Coppola, L. A., Francis, S., Jarrett, A., Jacob, S., Lillie, N., Gunderson, J., Istephanous, D., Simon, L., Wasserberg, O., Rachubinski, A. L., Rosenberg, C. R., Kanne, S. M., Shocklee, A. D., Takahashi, N., Bridwell, S. L., Klimczac, R. L., Mahurin, M. A., Cotrell, H. E., Grant, C. A., Hunter, S. G., Martin, C. L., Taylor, C. M., Walsh, L. K., Dent, K. A., Mason, A., Sziklay, A., Smith, C. J., Nordenskjold, M., Romano, C., Peeters, H., Gecz, J., and Xia, K.

Subjects
0301 basic medicine, Male, CCCTC-Binding Factor, Transcription Factor, Basic Helix-Loop-Helix Transcription Factor, DNA Mutational Analysis, General Physics and Astronomy, RNA-Binding Protein, Heterogeneous-Nuclear Ribonucleoprotein U, VARIANTS, medicine.disease_cause, Cohort Studies, 0302 clinical medicine, Neurodevelopmental Disorder, Basic Helix-Loop-Helix Transcription Factors, SPARK Consortium, 2.1 Biological and endogenous factors, Copy-number variation, Aetiology, lcsh:Science, GABRG2, Genetics, Mutation, Multidisciplinary, biology, Neurodevelopmental disorders, RNA-Binding Proteins, High-Throughput Nucleotide Sequencing, Autism spectrum disorders, Multidisciplinary Sciences, DNA-Binding Proteins, Science & Technology - Other Topics, Female, Case-Control Studie, Engineering sciences. Technology, Human, Science, DNA-Binding Protein, Genetic Association Studie, COPY-NUMBER VARIATION, General Biochemistry, Genetics and Molecular Biology, DNA sequencing, Article, KCNQ3 Potassium Channel, DNA Mutational Analysi, 03 medical and health sciences, medicine, Humans, Genetic Predisposition to Disease, AUTISM, Gene, Genetic Association Studies, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Science & Technology, DISABILITY, Prevention, Case-control study, General Chemistry, Repressor Protein, medicine.disease, FRAMEWORK, Repressor Proteins, DE-NOVO MUTATION, 030104 developmental biology, CTCF, Neurodevelopmental Disorders, Case-Control Studies, biology.protein, Next-generation sequencing, Autism, lcsh:Q, Cohort Studie, 030217 neurology & neurosurgery, Transcription Factors
Abstract

Most genes associated with neurodevelopmental disorders (NDDs) were identified with an excess of de novo mutations (DNMs) but the significance in case–control mutation burden analysis is unestablished. Here, we sequence 63 genes in 16,294 NDD cases and an additional 62 genes in 6,211 NDD cases. By combining these with published data, we assess a total of 125 genes in over 16,000 NDD cases and compare the mutation burden to nonpsychiatric controls from ExAC. We identify 48 genes (25 newly reported) showing significant burden of ultra-rare (MAF, For many neurodevelopmental disorder (NDD) risk genes, the significance for mutational burden is unestablished. Here, the authors sequence 125 candidate NDD genes in over 16,000 NDD cases; case-control mutational burden analysis identifies 48 genes with a significant burden of severe ultra-rare mutations.

Published
2020

28. Perturbations of genes essential for Müllerian duct and Wölffian duct development in Mayer-Rokitansky-Küster-Hauser syndrome

Author

Chen, N. Zhao, S. Jolly, A. Wang, L. Pan, H. Yuan, J. Chen, S. Koch, A. Ma, C. Tian, W. Jia, Z. Kang, J. Zhao, L. Qin, C. Fan, X. Rall, K. Coban-Akdemir, Z. Chen, Z. Jhangiani, S. Liang, Z. Niu, Y. Li, X. Yan, Z. Wu, Y. Dong, S. Song, C. Qiu, G. Zhang, S. Liu, P. Posey, J.E. Zhang, F. Luo, G. Wu, Z. Zhang, T.J. Wu, N. Wang, S. Liu, J. Liu, S. Zuo, Y. Liu, G. Yu, C. Liu, L. Shao, J. Zhao, H. Wang, H. Liu, B. Cheng, X. Lin, J. Du, H. Li, Y. Song, S. Xie, Z. Zhao, Z. Zhao, Z. Zheng, Z. Huang, Y. Su, J. Zhang, J. Chen, E.Y. Rouskas, K. Glentis, S. Bacopoulou, F. Deligeoroglou, E. Chrousos, G. Lyonnet, S. Polak, M. Rosenberg, C. Dingeldein, I. Bonilla, X. Borel, C. Gibbs, R.A. Dietrich, J.E. Dimas, A.S. Antonarakis, S.E. Brucker, S.Y. Lupski, J.R. Zhu, L. Deciphering Disorders Involving Scoliosis COmorbidities (DISCO) study group

Abstract

Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS) is associated with congenital absence of the uterus, cervix, and the upper part of the vagina; it is a sex-limited trait. Disrupted development of the Müllerian ducts (MD)/Wölffian ducts (WD) through multifactorial mechanisms has been proposed to underlie MRKHS. In this study, exome sequencing (ES) was performed on a Chinese discovery cohort (442 affected subjects and 941 female control subjects) and a replication MRKHS cohort (150 affected subjects of mixed ethnicity from North America, South America, and Europe). Phenotypic follow-up of the female reproductive system was performed on an additional cohort of PAX8-associated congenital hypothyroidism (CH) (n = 5, Chinese). By analyzing 19 candidate genes essential for MD/WD development, we identified 12 likely gene-disrupting (LGD) variants in 7 genes: PAX8 (n = 4), BMP4 (n = 2), BMP7 (n = 2), TBX6 (n = 1), HOXA10 (n = 1), EMX2 (n = 1), and WNT9B (n = 1), while LGD variants in these genes were not detected in control samples (p = 1.27E−06). Interestingly, a sex-limited penetrance with paternal inheritance was observed in multiple families. One additional PAX8 LGD variant from the replication cohort and two missense variants from both cohorts were revealed to cause loss-of-function of the protein. From the PAX8-associated CH cohort, we identified one individual presenting a syndromic condition characterized by CH and MRKHS (CH-MRKHS). Our study demonstrates the comprehensive utilization of knowledge from developmental biology toward elucidating genetic perturbations, i.e., rare pathogenic alleles involving the same loci, contributing to human birth defects. © 2020 American Society of Human Genetics

Published
2021

35. Dapagliflozin and Cardiovascular Outcomes in Type 2 Diabetes

Author

Wiviott S. D., Raz I., Bonaca M. P., Mosenzon O., Kato E. T., Cahn A., Silverman M. G., Zelniker T. A., Kuder J. F., Murphy S. A., Bhatt D. L., Leiter L. A., McGuire D. K., Wilding J. P. H., Ruff C. T., Nilsson G. I., Fredriksson M., Johansson P. A., Langkilde A. M., Sabatine M. S., Bansilal S., Furtado R., Fish M. P., Gabovitch D., Jevne A., Ahern S., Im K., Goodrich E. L., Lowe C., Fisher N., Gannon J., Trindade S., Towarowski A., Fox Y., Johnsson E., Ranft S., Faber B., Wallander M., Weiss A., Buskila A., Abola M. T. B., Ardissino D., Averkov O., Aylward P., Bode C., Bonnici F., Bonora E., Budaj A. J., Cernea S., Chiang C. E., Cooper M., Dalby A., Deerochanawong C., Dellborg M., Diaz R., Dimulescu D., Eliaschewitz F. G., Goudev A. R., Hadjadj S., Herrera M., Huo Y., Jermendy G., Ji L., Kadowaki T., Kiss R., Kooy A., Kumar K. M. P., Lewis B., Litwak L., Lopez-Sendon J., Ma R., Merlini P. A., Nauck M. A., Nguyen T. K., Nicolau J. C., Ostgren C. J., Ophuis T. O., Padilla F., Pais P., Park K. S., Parkhomenko A., Ray K., Rosenstock J., Ruda M., Satman I., Shestakova M., Smahelova A., Spinar J., Strojek K., Sy R., Tankova T., Theroux P., Tkac I., Van Gaal L., Wainstein J., Harrington R. A., Droller M. J., Lee K. L., Nesto R. W., Tuomilehto J., Hedlin H., Desai M., Sayfer I., Alexanian S., Awtry E., Bentley-Lewis R., Berger C. J., Croce K., Desai A., Garg R. K., Gelfand E., Gignac G., Goessling W., Ho C., Hochberg E., Lane A., Larrey D., Leeman D. E., Lewis J., Link M. S., McDonnell M. E., Norden A. 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H, Sueyoshi, A, Fukuda, K, Yasumoto, H, Matsubayashi, S, Kawajiri, K, Togashi, Y, Senokuchi, T, Ohta, Y, Yamauchi, T, Node, K, Alcocer Gamba, M, Herrera Marmolejo, M, De los Rios Ibarra, M, Gonzalez Galvez, G, Garcia Cantu, E, Leguizamo Dimas, A, Luna Ceballos, R, Medina Pech, C, Stobschinski de Alba, C, Gonzalez Gonzalez, J, Padilla Padilla, F, Fanghanel Salmon, G, Robles Torres, F, Lopez Rosas, E, Pelayo Orozco, E, Banda Elizondo, R, Escalona Caamano, A, Frenk Baron, P, Aguilar Salinas, C, Mustieles Rocha, C, Vidrio Velazquez, M, Rodriguez Briones, I, Saldate Alonso, M, Velasco Sanchez, R, Groenemeijer, B, Ronner, E, Kuijper, A, Strikwerda, S, Van Kempen, W, Gijsbers, S, Oude Ophuis, A, Swart, H, Hoogenberg, K, Hovens, M, van Hessen, M, Westerink, J, Kragten, J, Nierop, P, Bax, W, Hartong, S, Nieuwdorp, M, Gonkel, F, Al Windy, N, Troquay, R, Schaafsma, H, Lieverse, A, Knufman, N, Tirador, L, Guenon, M, Ferrolino, A, Atilano, A, Aportadera, M, Que, M, Denopol, M, Tolentino, M, Jimeno, C, Wee, J, Mirasol, R, Panelo, A, Roxas, D, Palmes, P, Silva, A, Salvador, D, Rosita, R, Maravilla, L, Rogelio, G, Pacheco, E, Tin Hay, L, Prado, J, Krzyzagorska, E, Witek, R, Miklaszewicz, B, Sudnik, W, Pomiecko, W, Bochenek, A, Fares, I, Wujkowski, M, Korol, M, Powierza, S, Goch, A, Miekus, P, Siegel, A, Skierkowska, J, Romanczuk, P, Cygler, J, Landa, K, Szyprowska, E, Stachlewski, P, Czerski, T, Pawlowicz, L, Sowinski, D, Romanowski, L, Rudzki, H, Skorski, M, Jasiel-Wojculewicz, H, Stasiewski, A, Kania, G, Mirek-Bryniarska, E, Wojnowski, L, Korzeniak, R, Oh, T, Lee, M, Jang, H, Kim, S, Ku, B, Cha, B, Son, H, Lee, I, Park, J, Yu, S, Shon, H, Rhee, E, Cho, J, Park, T, Nam, J, Pintilei, E, Popescu, A, Nafornita, V, Gutu, O, Dumitrescu, A, Bala, C, Caceaune, E, Mindrescu, N, Morosanu, M, Bradescu, O, Munteanu, M, Voitec, M, Vlaiculescu, M, Hancu, N, Diaconu Sotropa, M, Lupu, S, Mateescu, A, Carlan, L, Marton, R, Lupusoru, D, Mot, A, Coman, A, Zaharie, D, Rebrov, A, Shutemova, E, Bolieva, L, Khalimov, Y, Statsenko, M, Galyavich, A, Koziolova, N, Shapovalova, Y, Pavlysh, E, Strongin, L, Vertkin, A, Vishneva, E, Pavlova, M, Khasanov, N, Antsiferov, M, Gavrisheva, I, Sokolova, N, Vorobyev, S, Morugova, T, Sinitsina, I, Ezhov, A, Kobalava, Z, Belenkiy, D, Supryadkina, T, Kazakov, Y, Oschepkova, E, Dreval, A, Novikova, T, Vishnevsky, A, Chizhov, D, Akatova, E, Vorokhobina, N, Ivanov, I, Dudinskaya, E, Konstantinov, V, Kanderkova, D, Pavlik, L, Raslova, K, Paulovic, V, Babikova, J, Belesova, K, Merciakova, M, Truban, J, Vargova, A, Fabryova, L, Slovenska, M, Plasil, R, Tomasova, L, Kollarova, D, Spodniakova, D, Kosikova, M, Dzuponova, J, Kurcova, I, Skripova, D, Gabrisova, A, Kalinova, S, Ranjith, N, Burgess, L, Mitha, I, Conradie, M, Distiller, L, Pillai, P, Pillay, S, Horak, A, Nethononda, R, van den Berg, E, Nortje, H, Bayat, J, Corbett, C, Abelson, M, van Zyl, L, Pillay, T, Wing, J, Kapp, C, Hidalgo Urbano, R, Gonzalez Juanatey, J, Blanco Coronado, J, Bruguera Cortada, J, Ferreiro Gutierrez, J, Quesada Simon, M, Castro, A, Delgado Alvarez, E, Freixa, R, Boada, A, Larnefeldt, H, Mooe, T, Koskinen, P, Lagerback, P, Linderfalk, C, Liu, B, Berndtsson Blom, K, Tengmark, B, Lindholm, C, Oweling, M, Albertsson, P, Alvarsson, M, Fant, S, Berglund, O, Hsia, C, Fang, C, Ueng, K, Wang, K, Lai, W, Mamanasiri, S, Wongvipaporn, C, Kuanprasert, S, Thongsri, T, Srimahachota, S, Boonyavarakul, A, Suwanwalaikorn, S, Tantiwong, P, Sritara, P, Sriwijitkamol, A, Sanguanwong, S, Chotinaiwattarakul, C, Piyayotai, D, Balci, M, Orbay, E, Saygili, F, Oguz, A, Altuntas, Y, Comlekci, A, Karpenko, O, Tkach, S, Vlasenko, M, Fushtey, I, Pertseva, T, Reshotko, D, Mostovoy, Y, Vizir, V, Kraiz, I, Amosova, K, Batushkin, V, Tseluyko, V, Koval, O, Strang, C, Bodalia, B, Pieters, R, Turner, W, Asamoah-Owusu, N, White, C, Calvert, J, Mcnally, D, Jones, N, Mckaig, G, Thompson, J, Mohr, S, Simpson, H, Conn, P, Mccoye, A, Rivero, O, Yazdani, S, Ince, C, Zeitlin, J, Wharton, T, Platt, G, Anderson, R, Angueira-Serrano, E, Lillestol, M, Hanlon, B, Soufer, J, Garcia, B, Iteld, B, Venugopal, C, Ahmed, A, Duardo-Guerra, Y, Jetty, P, Miranda, A, Wahlen, J, Lederman, S, Cohen, K, Lake, L, French, W, Tahirkheli, N, Baker, S, Stoltz, R, Wilson, J, Nadar, V, Brown, J, Larrain, G, Wiseman, A, Ruoff, G, Williams, M, Tan, A, Hartman, I, Singh, N, Graf, R, Wakefield, P, Mcneill, R, Byars, W, Reyes Almodovar, R, Jones, S, Kantaros, L, Hegedosh, N, Graves, M, Bernstein, M, Falkowski, S, Bialow, M, Paraschos, A, Dagher, G, Arif, A, Condit, J, Chaykin, L, Grunstra, B, Earl, J, Unks, D, Srivastava, S, Benson, M, Huffman, C, Miller, G, Willis, J, Bender, K, Martin, E, Blackmore, R, Rohr, K, Chilka, S, Gadowski, G, Fitz-Patrick, D, Benjamin, S, Morin, D, Zias Dilena, A, Acosta, R, Claassen, D, Miranda, F, Raad, G, Inzerello, A, Porter, J, Bhattacharya, A, Gutmann, J, Korpas, D, Syed, M, Zieve, F, Raisinghani, A, Alam, S, Bartkowiak, A, Boccalandro, F, Talano, J, Mercado, A, Krichmar, P, Oldfield, C, Adams, K, Gorman, T, Lewis, D, Shah, R, Shockey, G, Lefebvre, G, Andrawis, N, Tami, L, Bittar, N, Khan, M, Rink, L, Hendrix, E, Wood, J, Robinson, J, Pavon, H, Irfan, M, Gonzalez, E, Singal, R, Shore, K, Saba, F, Bianco, J, Erickson, B, Gorson, D, Puri, S, Arauz-Pacheco, C, Forman, S, Akyea-Djamson, A, Lieber, I, Barker, B, Desai, P, Sotolongo, C, Steinhoff, J, Hill, R, Radin, M, Patel, R, Lieberman, S, Wenocur, H, Dagogo-Jack, S, Lupovitch, S, Ison, R, Bacharach, J, Diogo, J, Mazzella, M, Greenwald, J, Quadrel, M, Mayer, N, Datu, J, Mccartney, M, Bruce, T, Singal, D, Turner, J, Videau, B, Fritz, R, Fox, D, Calatayud, G, Sheldon, W, Kereiakes, D, Thomas, J, Salacata, A, Mccullum, K, Harris, B, de Souza, J, Rahman, A, Blumenthal, S, Narayan, P, Bloch, M, Augenbraun, C, Bernstein, R, Perlman, R, Berman, J, Labryer, L, Wynne, A, Fish, J, Zarich, S, Gabra, N, Popeil, L, Hermany, P, Barreto, A, Pomposini, D, Gonzalez-Campoy, J, Langer, M, Bayron, C, Suneja, R, Kamlet, J, Wheeler, K, Hurley, S, Sharma, S, Wefald, F, Hershon, K, O'Connor, T, Pueblitz, G, Laguerre, J, Amin, M, Alfonso, T, Jaffrani, N, Isserman, S, Portnay, E, Vlastaris, A, Dy, J, Hagan, M, Noveck, H, Kraft, P, Andersen, J, Foley, B, Carr, K, Gelormini, J, Williams, T, Landau, C, Richwine, R, Thakkar, M, Karim, A, Madhun, Z, Francyk, D, Lamantia, J, Baker, B, Zhang, W, Lev, V, Hasan, M, Captain, A, Herzog, W, Friedman, K, Lawson, W, Desai, V, Ow, C, Simons, R, Mandviwala, M, Le, T, Hack, T, Zebrack, J, Henderson, D, Dejulia, J, Mehta, R, Reza, S, Poonawala, R, Awad, A, Velasquez, M, Mohiuddin, S, Salazar Sharma, M, Myrick, G, Gottlieb, D, Ovalle, F, Alfieri, A, Ahmed, S, Bohula, E, Donahoe, S, Longshaw, K, Eshaghian, S, Lash, J, Goldberg, R, Fox, B, Mostel, E, Dobies, D, Ward, H, Burbano, J, Puleo, P, Lenhard, M, Korn, D, Thadani, U, Bradley, A, Kmetzo, J, Heasley, E, Raikhel, M, Mahr, N, Bittar, G, Fuentes, F, Raghu, P, Diep, T, Tran, Q, Tran, N, Nguyen, D, and Nguyen, V

Subjects
Male, medicine.medical_specialty, dapagliflozin, placebo, [SDV]Life Sciences [q-bio], Renal function, Type 2 diabetes, [SDV.BC]Life Sciences [q-bio]/Cellular Biology, 030204 cardiovascular system & hematology, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Glucosides, Diabetes mellitus, Internal medicine, medicine, Humans, 030212 general & internal medicine, Myocardial infarction, Benzhydryl Compounds, Dapagliflozin, Sodium-Glucose Transporter 2 Inhibitors, ComputingMilieux_MISCELLANEOUS, Aged, Heart Failure, Canagliflozin, business.industry, [SDV.BA]Life Sciences [q-bio]/Animal biology, General Medicine, Middle Aged, [SDV.SP]Life Sciences [q-bio]/Pharmaceutical sciences, medicine.disease, Hospitalization, Diabetes Mellitus, Type 2, chemistry, Cardiovascular Diseases, Heart failure, Cardiology, Female, business, [SDV.AEN]Life Sciences [q-bio]/Food and Nutrition, Mace, medicine.drug
Abstract

BACKGROUND The cardiovascular safety profile of dapagliflozin, a selective inhibitor of sodium-glucose cotransporter 2 that promotes glucosuria in patients with type 2 diabetes, is undefined. METHODS We randomly assigned patients with type 2 diabetes who had or were at risk for atherosclerotic cardiovascular disease to receive either dapagliflozin or placebo. The primary safety outcome was a composite of major adverse cardiovascular events (MACE), defined as cardiovascular death, myocardial infarction, or ischemic stroke. The primary efficacy outcomes were MACE and a composite of cardiovascular death or hospitalization for heart failure. Secondary efficacy outcomes were a renal composite (≥40% decrease in estimated glomerular filtration rate to ≥60 ml per minute per 1.73 m2 of body-surface area, new end-stage renal disease, or death from renal or cardiovascular causes) and death from any cause. RESULTS We evaluated 17,160 patients, including 10,186 without atherosclerotic cardiovascular disease, who were followed for a median of 4.2 years. In the primary safety outcome analysis, dapagliflozin met the prespecified criterion for noninferiority to placebo with respect to MACE (upper boundary of the 95% confidence interval [CI], ≥1.3; P≥0.001 for noninferiority). In the two primary efficacy analyses, dapagliflozin did not result in a lower rate of MACE (8.8% in the dapagliflozin group and 9.4% in the placebo group; hazard ratio, 0.93; 95% CI, 0.84 to 1.03; P = 0.17) but did result in a lower rate of cardiovascular death or hospitalization for heart failure (4.9% vs. 5.8%; hazard ratio, 0.83; 95% CI, 0.73 to 0.95; P = 0.005), which reflected a lower rate of hospitalization for heart failure (hazard ratio, 0.73; 95% CI, 0.61 to 0.88); there was no between-group difference in cardiovascular death (hazard ratio, 0.98; 95% CI, 0.82 to 1.17). A renal event occurred in 4.3% in the dapagliflozin group and in 5.6% in the placebo group (hazard ratio, 0.76; 95% CI, 0.67 to 0.87), and death from any cause occurred in 6.2% and 6.6%, respectively (hazard ratio, 0.93; 95% CI, 0.82 to 1.04). Diabetic ketoacidosis was more common with dapagliflozin than with placebo (0.3%vs. 0.1%, P = 0.02), as was the rate of genital infections that led to discontinuation of the regimen or that were considered to be serious adverse events (0.9% vs. 0.1%, P≥0.001). CONCLUSIONS In patients with type 2 diabetes who had or were at risk for atherosclerotic cardiovascular disease, treatment with dapagliflozin did not result in a higher or lower rate of MACE than placebo but did result in a lower rate of cardiovascular death or hospitalization for heart failure, a finding that reflects a lower rate of hospitalization for heart failure. (Funded by AstraZeneca; DECLARETIMI 58 ClinicalTrials.gov number, NCT01730534

Published
2019

37. Author Correction: Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders (Nature Communications, (2020), 11, 1, (4932), 10.1038/s41467-020-18723-y)

Author

Wang, T., Hoekzema, K., Vecchio, Davide., Wu, H., Sulovari, A., Coe, B. P., Gillentine, M. A., Wilfert, A. B., Perez-Jurado, L. A., Kvarnung, M., Sleyp, Y., Earl, R. K., Rosenfeld, J. A., Geisheker, M. R., Han, L., Du, B., Barnett, C., Thompson, E., Shaw, M., Carroll, R., Friend, K., Catford, R., Palmer, E. E., Zou, X., Ou, J., Li, H., Guo, H., Gerdts, J., Avola, E., Calabrese, Giuseppe, Elia, Maurizio., Greco, Donatella, Lindstrand, A., Nordgren, A., Anderlid, B. -M., Vandeweyer, G., Van Dijck, A., Van der Aa, N., Mckenna, B., Hancarova, M., Bendova, S., Havlovicova, M., Malerba, G., Bernardina, B. D., Muglia, P., van Haeringen, A., Hoffer, M. J. V., Franke, B., Cappuccio, G., Delatycki, M., Lockhart, P. J., Manning, M. A., Liu, P., Scheffer, I. E., Brunetti-Pierri, N., Rommelse, N., Amaral, D. G., Santen, G. W. E., Trabetti, E., Sedlacek, Z., Michaelson, J. J., Pierce, K., Courchesne, E., Kooy, R. F., Acampado, J., Ace, A. J., Amatya, A., Astrovskaya, I., Bashar, A., Brooks, E., Butler, M. E., Cartner, L. A., Chin, W., Chung, W. K., Daniels, A. M., Feliciano, P., Fleisch, C., Ganesan, S., Jensen, W., Lash, A. E., Marini, R., Myers, V. J., O'Connor, E., Rigby, C., Robertson, B. E., Shah, N., Shah, S., Singer, E., Snyder, L. A. G., Stephens, A. N., Tjernagel, J., Vernoia, B. M., Volfovsky, N., White, L. C., Hsieh, A., Shen, Y., Zhou, X., Turner, T. N., Bahl, E., Thomas, T. R., Brueggeman, L., Koomar, T., O'Roak, B. J., Barnard, R. A., Gibbs, R. A., Muzny, D., Sabo, A., Ahmed, K. L. B., Eichler, E. E., Siegel, M., Abbeduto, L., Hilscher, B. A., Li, D., Smith, K., Thompson, S., Albright, C., Butter, E. M., Eldred, S., Hanna, N., Jones, M., Coury, D. L., Scherr, J., Pifher, T., Roby, E., Dennis, B., Higgins, L., Brown, M., Alessandri, M., Gutierrez, A., Hale, M. N., Herbert, L. M., Schneider, H. L., David, G., Annett, R. D., Sarver, D. E., Arriaga, I., Camba, A., Gulsrud, A. C., Haley, M., Mccracken, J. T., Sandhu, S., Tafolla, M., Yang, W. S., Carpenter, L. A., Bradley, C. C., Gwynette, F., Manning, P., Shaffer, R., Thomas, C., Bernier, R. A., Fox, E. A., Gerdts, J. A., Pepper, M., Ho, T., Cho, D., Piven, J., Lechniak, H., Soorya, L. V., Gordon, R., Wainer, A., Yeh, L., Ochoa-Lubinoff, C., Russo, N., Berry-Kravis, E., Booker, S., Erickson, C. A., Prock, L. M., Pawlowski, K. G., Matthews, E. T., Brewster, S. J., Hojlo, M. A., Abada, E., Lamarche, E., Murali, S. C., Harvey, W. T., Kaplan, H. E., Pierce, K. L., Demarco, L., Horner, S., Pandey, J., Plate, S., Sahin, M., Riley, K. D., Carmody, E., Constantini, J., Esler, A., Fatemi, A., Hutter, H., Landa, R. J., Mckenzie, A. P., Neely, J., Singh, V., Van Metre, B., Wodka, E. L., Fombonne, E. J., Huang-Storms, L. Y., Pacheco, L. D., Mastel, S. A., Coppola, L. A., Francis, S., Jarrett, A., Jacob, S., Lillie, N., Gunderson, J., Istephanous, D., Simon, L., Wasserberg, O., Rachubinski, A. L., Rosenberg, C. R., Kanne, S. M., Shocklee, A. D., Takahashi, N., Bridwell, S. L., Klimczac, R. L., Mahurin, M. A., Cotrell, H. E., Grant, C. A., Hunter, S. G., Martin, C. L., Taylor, C. M., Walsh, L. K., Dent, K. A., Mason, A., Sziklay, A., Smith, C. J., Nordenskjold, M., Romano, Corrado, Peeters, H., Gecz, J., and Xia, K.

Published
2020

41. Reistochten naar de Geelvinkbaai op Nieuw-Guinea in de jaren 1869 en 1870

Author

Rosenberg, C. B. H. von (Carl Benjamin Hermann), 1817-1888, Koninklijk Instituut voor Taal-, Land- en Volkenkunde (Netherlands), Smithsonian Libraries and Archives, Rosenberg, C. B. H. von (Carl Benjamin Hermann), 1817-1888, and Koninklijk Instituut voor Taal-, Land- en Volkenkunde (Netherlands)

Subjects
Description and travel, Geelvink Bay, Papua (Indonesia)

44. A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial features

Author

Molin, A-M, Andrieux, J, Koolen, D A, Malan, V, Carella, M, Colleaux, L, Cormier-Daire, V, David, A, de Leeuw, N, Delobel, B, Duban-Bedu, B, Fischetto, R, Flinter, F, Kjaergaard, S, Kok, F, Krepischi, A C, Le Caignec, C, Ogilvie, C Mackie, Maia, S, Mathieu-Dramard, M, Munnich, A, Palumbo, O, Papadia, F, Pfundt, R, Reardon, W, Receveur, A, Rio, M, Ronsbro Darling, L, Rosenberg, C, Sá, J, Vallee, L, Vincent-Delorme, C, Zelante, L, Bondeson, M-L, and Annerén, G

Published
2012
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45. Tetrachloroethylene emissions and exposure in dry cleaning. (Technical Paper)

Author

Raisanen, J., Niemela, R., and Rosenberg, C.

Subjects
Environmental health -- Research -- Statistics -- Health aspects, Perchloroethylene -- Statistics, Work environment -- Health aspects -- Statistics -- Research, Environmental services industry, Environmental issues, Science and technology
Abstract

ABSTRACT Tetrachloroethylene (PCE) emissions and the exposure of workers in six commercial and three industrial dry-cleaning establishments that use dry-to-dry machines were determined. The personal samples and area samples [8-hr [...]

Published
2001

46. FRI0095 SARILUMAB IMPROVED PATIENT-PERCEIVED IMPACT OF RHEUMATOID ARTHRITIS WHATEVER THE BASELINE DISEASE ACTIVITY: FIRST RESULTS FROM AN INTERVENTIONAL NON CONTROLLED STUDY: SARIPRO, IN MODERATE AND SEVERE RHEUMATOID ARTHRITIS PATIENTS

Author

Gossec, L., primary, Flipo, R. M., additional, Schaeverbeke, T., additional, Albert, C., additional, Baillet, A., additional, Boissier, M. C., additional, Confavreux, C., additional, Cormier, G., additional, Dernis, E., additional, Gervais Solau, E., additional, Godot, S., additional, Gottenberg, J. E., additional, Goupille, P., additional, Lassoued, S., additional, Lequerre, T., additional, Lioté, F., additional, Marcelli, C., additional, Maugars, Y., additional, Nguyen, M., additional, Perdriger, A., additional, Pers, Y. M., additional, Pertuiset, E., additional, Poiroux, L., additional, Rosenberg, C., additional, Roux, C., additional, Ruyssen-Witrand, A., additional, Soubrier, M., additional, Vergne-Salle, P., additional, Zarnitsky, C., additional, Fakra, E., additional, Marotte, H., additional, and Lévy-Weil, F. E., additional

Published
2020
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49. Transcriptome of iPSC-derived neuronal cells reveals a module of co-expressed genes consistently associated with autism spectrum disorder

Author

Griesi-Oliveira, K., primary, Fogo, M. S., additional, Pinto, B. G. G., additional, Alves, A. Y., additional, Suzuki, A. M., additional, Morales, A. G., additional, Ezquina, S., additional, Sosa, O. J., additional, Sutton, G. J., additional, Sunaga-Franze, D. Y., additional, Bueno, A. P., additional, Seabra, G., additional, Sardinha, L., additional, Costa, S. S., additional, Rosenberg, C., additional, Zachi, E. C., additional, Sertie, A. L., additional, Martins-de-Souza, D., additional, Reis, E. M., additional, Voineagu, I., additional, and Passos-Bueno, M. R., additional

Published
2020
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