Diagnostic Yield and Novel Candidate Genes by Exome Sequencing in 152 Consanguineous Families With Neurodevelopmental Disorders.

@article{Reuter2017DiagnosticYA,
  title={Diagnostic Yield and Novel Candidate Genes by Exome Sequencing in 152 Consanguineous Families With Neurodevelopmental Disorders.},
  author={Miriam S Reuter and Hasan Tawamie and Rebecca Buchert and Ola Hosny Gebril and Tawfiq Jamal Froukh and Christian T Thiel and Steffen Uebe and Arif B. Ekici and Mandy Krumbiegel and Christiane Zweier and Juliane Hoyer and Karolin Eberlein and Judith D Bauer and Ute Scheller and Tim Matthias Strom and Sabine Hoffjan and Ehab Ragaa Abdelraouf and Nagwa Abdel Meguid and Ahmad Abboud and Mohammed Ayman Al Khateeb and Mahmoud Fakher and Saber Hamdan and Amina Ismael and Safia Muhammad and Ebtessam Abdallah and Heinrich Sticht and Dagmar Wieczorek and Andr{\'e} Reis and Rami Abou Jamra},
  journal={JAMA psychiatry},
  year={2017},
  volume={74 3},
  pages={293-299}
}
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, Setting, and Participants Autozygosity mapping in families and exome sequencing of… CONTINUE READING