Article
High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population.
American journal of human genetics - 7 Oct 2021
Mitani Tadahiro, Isikay Sedat, Gezdirici Alper, Gulec Elif Yilmaz, Punetha Jaya, Fatih Jawid M, Herman Isabella, Akay Gulsen, Du Haowei, Calame Daniel G, Ayaz Akif, Tos Tulay, Yesil Gozde, Aydin Hatip, Geckinli Bilgen, Elcioglu Nursel, Candan Sukru, Sezer Ozlem, Erdem Haktan Bagis, Gul Davut, Demiral Emine, Elmas Muhsin, Yesilbas Osman, Kilic Betul, Gungor Serdal, Ceylan Ahmet C, Bozdogan Sevcan, Ozalp Ozge, Cicek Salih, Aslan Huseyin, Yalcintepe Sinem, Topcu Vehap, Bayram Yavuz, Grochowski Christopher M, Jolly Angad, Dawood Moez, Duan Ruizhi, Jhangiani Shalini N, Doddapaneni Harsha, Hu Jianhong, Muzny Donna M, Marafi Dana, Akdemir Zeynep Coban, Karaca Ender, Carvalho Claudia M B, Gibbs Richard A, Posey Jennifer E, Lupski James R, Pehlivan Davut
Abstract excerpt
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...
Topics
- Adolescent
- Adult
- Child
- Child, Preschool
- Cohort Studies
- Female