TY  - JOUR
AU  - Hengel, Holger
AU  - Buchert, Rebecca
AU  - Sturm, Marc
AU  - Haack, Tobias B
AU  - Schelling, Yvonne
AU  - Mahajnah, Muhammad
AU  - Sharkia, Rajech
AU  - Azem, Abdussalam
AU  - Balousha, Ghassan
AU  - Ghanem, Zaid
AU  - Falana, Mohammed
AU  - Balousha, Osama
AU  - Ayesh, Suhail
AU  - Keimer, Reinhard
AU  - Deigendesch, Werner
AU  - Zaidan, Jimmy
AU  - Marzouqa, Hiyam
AU  - Bauer, Peter
AU  - Schöls, Ludger
TI  - First-line exome sequencing in Palestinian and Israeli Arabs with neurological disorders is efficient and facilitates disease gene discovery.
JO  - European journal of human genetics
VL  - 28
IS  - 8
SN  - 1476-5438
CY  - Basingstoke
PB  - Stockton Press
M1  - DZNE-2020-01287
SP  - 1034 - 1043
PY  - 2020
AB  - 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
KW  - Arabs: genetics
KW  - Female
KW  - Gene Frequency
KW  - Genetic Loci
KW  - Genetic Predisposition to Disease
KW  - Humans
KW  - Male
KW  - Nervous System Diseases: genetics
KW  - Pedigree
KW  - Exome Sequencing: standards
KW  - Exome Sequencing: statistics & numerical data
LB  - PUB:(DE-HGF)16
C6  - pmid:32214227
C2  - pmc:PMC7382450
DO  - DOI:10.1038/s41431-020-0609-9
UR  - https://pub.dzne.de/record/153290
ER  -