EFHC1 variants in juvenile myoclonic epilepsy: reanalysis according to NHGRI and ACMG guidelines for assigning disease causality

Genetics in Medicine - Tập 19 - Trang 144-156 - 2017
Julia N. Bailey1,2,3, Christopher Patterson1,2, Laurence de Nijs2,4, Reyna M. Durón1,2,5, Viet-Huong Nguyen1,2,6, Miyabi Tanaka1,2,7, Marco T. Medina2,8, Aurelio Jara-Prado2,9, Iris E. Martínez-Juárez2,9, Adriana Ochoa2,9, Yolli Molina2,8, Toshimitsu Suzuki2,10, María E. Alonso2,9, Jenny E. Wight1,2, Yu-Chen Lin1,2, Laura Guilhoto2,11, Elza Marcia Targas Yacubian2,11, Jesús Machado-Salas1,2, Andrea Daga2,12, Kazuhiro Yamakawa2,10
1Epilepsy Genetics/Genomics Lab, Neurology and Research Services, VA GLAHS/UCLA, Los Angeles, California, USA
2GENESS International Consortium
3Department of Epidemiology, Fielding School of Public Health, UCLA, Los Angeles, California, USA
4GIGA-Neurosciences, University of Liège, Liège, Belgium
5Facultad de Ciencias de la Salud, Universidad Tecnológica Centroamericana (UNITEC), Tegucigalpa, Honduras
6Chapman University School of Pharmacy, Irvine, California, USA
7Department of Neurology, David Geffen School of Medicine at UCLA, Los Angeles, California, USA
8National Autonomous University of Honduras, Tegucigalpa, Honduras
9National Institute of Neurology and Neurosurgery, Mexico City, Mexico
10Neurogenetics Lab, RIKEN Brain Science Institute, Saitama, Japan
11Unidade de Pesquisa e Tratamento das Epilepsias (UNIPETE), Universidade Federal de Sao Paulo (UNIFESP-EPM), Sao Paulo, Brazil
12Eugenio Medea Scientific Institute, Conegliano and Dulbecco Telethon Institute, Italy

Tài liệu tham khảo

MacArthur Gargis ACMG Laboratory Quality Assurance Committee Bell 1000 Genomes Project Consortium National Heart, Lung and Blood Institute GO Exome Sequencing Project Weng Type 1 Diabetes Genetics Consortium; UK Inflammatory Bowel Disease (IBD) Genetics Consortium; Wellcome Trust Case Control Consortium Epi4K and EPGP Investigators. Manolio Yang 1000 Genomes Project Consortium Exome Variant Server, NHLBI GO Exome Sequencing Project (ESP), Seattle, WA. http://evs.gs.washington.edu/EVS/. Accessed 2 April 2014. Exome Aggregation Consortium (ExAC), Cambridge, MA. http;//exac.broadinstitute.org. Accessed date 29 November 2015. Landrum Suzuki Medina Jara-Prado Annesi Stogmann Subaran von Podewils Ma Berger Coll Bai Pinto Raju Pedabaliyarasimhuni PK. Connecting the paralogs: contribution of EFHC1 and EFHC2 in juvenile myoclonic epilepsy.Thesis, Jawaharlal Nehru Centre for Advanced Scientific Research, Jakkur, Bangalore, India, 2014. Thompson Galili T, Calhoun P. Barnard’s exact test—a powerful alternative for Fisher’s exact test (implemented in R). R Statistics Blog, 2 February 2010. Accessed 28 October 2015. http://www.r-statistics.com/2010/02/barnards-exact-test-a-powerful-alternative-for-fishers-exact-test-implemented-in-r/. Mehrotra Nicoletti Syvertsen Fong Bhalla Pollard NISC Comparative Sequencing Program Lindblad-Toh Garber Davydov Siepel Ng Kumar Adzhubei Adzhubei Chun Schwarz Reva Shihab Kircher Liu Liu Wang Desmet de Nijs de Nijs Katano Sahni Suzuki Machado-Salas J, Tanaka M, Avila Costa M, et al. Neuronal migration arrest in a juvenile myoclonic epilepsy KO-mice [abstr]. Epilepsy Curr 2012: 472. http://dx.doi.org/10.5698/1535-7511-13.s1.1. Rossetto Yang Ahn Flora Shinoda Shamseldin Yamashita Xu Salles Sun Ross Allen Meencke Meencke
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Genetics in Medicine

Tập 19

144-156

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