biostudies-literatureMitani TNHGRI NIH HHSNINDS NIH HHSNIGMS NIH HHS1981-2005https://www.ebi.ac.uk/biostudies/studies/S-EPMC8546040biostudies-literatureUnknown108(10)Neurodevelopmental disorders (NDDs) are clinically and genetically heterogenous; many such disorders are secondary to perturbation in brain development and/or function. The prevalence of NDDs is > 3%, resulting in significant sociocultural and economic challenges to society. With recent advances in family-based genomics, rare-variant analyses, and further exploration of the Clan Genomics hypothesis, there has been a logarithmic explosion in neurogenetic "disease-associated genes" molecular etiology and biology of NDDs; however, the majority of NDDs remain molecularly undiagnosed. We applied genome-wide screening technologies, including exome sequencing (ES) and whole-genome sequencing (WGS), to identify the molecular etiology of 234 newly enrolled subjects and 20 previously unsolved TurkisAmerican journal of human geneticsHigh prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population.PMC8546040R01 GM132589UM1 HG006542U54 HG003273R35 NS105078U01 HG011758K08 HG008986T32 GM007526Sezer OErdem HBYalcintepe SGibbs RAElcioglu NDemiral EMarafi DJolly ABozdogan STopcu VDawood MLupski JRPunetha JYesilbas OGrochowski CMBayram YKilic BGulec EYOzalp OAyaz APehlivan DFatih JMHu JIsikay SYesil GAydin HDu HAkdemir ZCAslan HTos TJhangiani SNPosey JEHerman ICarvalho CMBAkay GGezdirici ACandan SGungor SGul DDoddapaneni HElmas MMuzny DMBaylor-Hopkins Center for Mendelian GenomicsCeylan ACCicek SCalame DGKaraca EGeckinli BDuan RMitani TfalseHigh prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population.Neurodevelopmental disorders (NDDs) are clinically and genetically heterogenous; many such disorders are secondary to perturbation in brain development and/or function. The prevalence of NDDs is > 3%, resulting in significant sociocultural and economic challenges to society. With recent advances in family-based genomics, rare-variant analyses, and further exploration of the Clan Genomics hypothesis, there has been a logarithmic explosion in neurogenetic "disease-associated genes" molecular etiology and biology of NDDs; however, the majority of NDDs remain molecularly undiagnosed. We applied genome-wide screening technologies, including exome sequencing (ES) and whole-genome sequencing (WGS), to identify the molecular etiology of 234 newly enrolled subjects and 20 previously unsolved Turkis2021-01-01T00:00:00Z2021 Oct2026-05-31T06:04:02.21Z2025-04-20T00:20:51.166ZS-EPMC85460403458279010.1016/j.ajhg.2021.08.009