Article
Diagnostic Yield and Novel Candidate Genes by Exome Sequencing in 152 Consanguineous Families With Neurodevelopmental Disorders.
JAMA psychiatry - 1 Mar 2017
Reuter Miriam S, Tawamie Hasan, Buchert Rebecca, Hosny Gebril Ola, Froukh Tawfiq, Thiel Christian, Uebe Steffen, Ekici Arif B, Krumbiegel Mandy, Zweier Christiane, Hoyer Juliane, Eberlein Karolin, Bauer Judith, Scheller Ute, Strom Tim M, Hoffjan Sabine, Abdelraouf Ehab R, Meguid Nagwa A, Abboud Ahmad, Al Khateeb Mohammed Ayman, Fakher Mahmoud, Hamdan Saber, Ismael Amina, Muhammad Safia, Abdallah Ebtessam, Sticht Heinrich, Wieczorek Dagmar, Reis André, Abou Jamra Rami
Abstract excerpt
Importance: Autosomal recessive inherited neurodevelopmental disorders are highly heterogeneous, and many, possibly most, of the disease genes are still unknown. Objectives: To promote the identification of disease genes through confirmation of previously described genes and presentation of novel candidates and provide an overview of the diagnostic yield of exome sequencing in consanguineous families. Design,...
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