Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease.
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ABSTRACT:
SUBMITTER: Karaca E
PROVIDER: S-EPMC4824012 | biostudies-literature | 2015 Nov
REPOSITORIES: biostudies-literature
Publications
Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease.
Karaca Ender E Harel Tamar T Pehlivan Davut D Jhangiani Shalini N SN Gambin Tomasz T Coban Akdemir Zeynep Z Gonzaga-Jauregui Claudia C Erdin Serkan S Bayram Yavuz Y Campbell Ian M IM Hunter Jill V JV Atik Mehmed M MM Van Esch Hilde H Yuan Bo B Wiszniewski Wojciech W Isikay Sedat S Yesil Gozde G Yuregir Ozge O OO Tug Bozdogan Sevcan S Aslan Huseyin H Aydin Hatip H Tos Tulay T Aksoy Ayse A De Vivo Darryl C DC Jain Preti P Geckinli B Bilge BB Sezer Ozlem O Gul Davut D Durmaz Burak B Cogulu Ozgur O Ozkinay Ferda F Topcu Vehap V Candan Sukru S Cebi Alper Han AH Ikbal Mevlit M Yilmaz Gulec Elif E Gezdirici Alper A Koparir Erkan E Ekici Fatma F Coskun Salih S Cicek Salih S Karaer Kadri K Koparir Asuman A Duz Mehmet Bugrahan MB Kirat Emre E Fenercioglu Elif E Ulucan Hakan H Seven Mehmet M Guran Tulay T Elcioglu Nursel N Yildirim Mahmut Selman MS Aktas Dilek D Alikaşifoğlu Mehmet M Ture Mehmet M Yakut Tahsin T Overton John D JD Yuksel Adnan A Ozen Mustafa M Muzny Donna M DM Adams David R DR Boerwinkle Eric E Chung Wendy K WK Gibbs Richard A RA Lupski James R JR
Neuron 20151101 3
Development of the human nervous system involves complex interactions among fundamental cellular processes and requires a multitude of genes, many of which remain to be associated with human disease. We applied whole exome sequencing to 128 mostly consanguineous families with neurogenetic disorders that often included brain malformations. Rare variant analyses for both single nucleotide variant (SNV) and copy number variant (CNV) alleles allowed for identification of 45 novel variants in 43 know ...[more]
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