%0 Journal Article
%A Hengel, Holger
%A Buchert, Rebecca
%A Sturm, Marc
%A Haack, Tobias B
%A Schelling, Yvonne
%A Mahajnah, Muhammad
%A Sharkia, Rajech
%A Azem, Abdussalam
%A Balousha, Ghassan
%A Ghanem, Zaid
%A Falana, Mohammed
%A Balousha, Osama
%A Ayesh, Suhail
%A Keimer, Reinhard
%A Deigendesch, Werner
%A Zaidan, Jimmy
%A Marzouqa, Hiyam
%A Bauer, Peter
%A Schöls, Ludger
%T First-line exome sequencing in Palestinian and Israeli Arabs with neurological disorders is efficient and facilitates disease gene discovery.
%J European journal of human genetics
%V 28
%N 8
%@ 1476-5438
%C Basingstoke
%I Stockton Press
%M DZNE-2020-01287
%P 1034 - 1043
%D 2020
%X A high rate of consanguinity leads to a high prevalence of autosomal recessive disorders in inbred populations. One example of inbred populations is the Arab communities in Israel and the Palestinian Authority. In the Palestinian Authority in particular, due to limited access to specialized medical care, most patients do not receive a genetic diagnosis and can therefore neither receive genetic counseling nor possibly specific treatment. We used whole-exome sequencing as a first-line diagnostic tool in 83 Palestinian and Israeli Arab families with suspected neurogenetic disorders and were able to establish a probable genetic diagnosis in 51
%K Arabs: genetics
%K Female
%K Gene Frequency
%K Genetic Loci
%K Genetic Predisposition to Disease
%K Humans
%K Male
%K Nervous System Diseases: genetics
%K Pedigree
%K Exome Sequencing: standards
%K Exome Sequencing: statistics & numerical data
%F PUB:(DE-HGF)16
%9 Journal Article
%$ pmid:32214227
%2 pmc:PMC7382450
%R 10.1038/s41431-020-0609-9
%U https://pub.dzne.de/record/153290