Article
Clinical genomics expands the morbid genome of intellectual disability and offers a high diagnostic yield.
Molecular psychiatry - 1 Apr 2017
Anazi S, Maddirevula S, Faqeih E, Alsedairy H, Alzahrani F, Shamseldin H E, Patel N, Hashem M, Ibrahim N, Abdulwahab F, Ewida N, Alsaif H S, Al Sharif H, Alamoudi W, Kentab A, Bashiri F A, Alnaser M, AlWadei A H, Alfadhel M, Eyaid W, Hashem A, Al Asmari A, Saleh M M, AlSaman A, Alhasan K A, Alsughayir M, Al Shammari M, Mahmoud A, Al-Hassnan Z N, Al-Husain M, Osama Khalil R, Abd El Meguid N, Masri A, Ali R, Ben-Omran T, El Fishway P, Hashish A, Ercan Sencicek A, State M, Alazami A M, Salih M A, Altassan N, Arold S T, Abouelhoda M, Wakil S M, Monies D, Shaheen R, Alkuraya F S
Abstract excerpt
Intellectual disability (ID) is a measurable phenotypic consequence of genetic and environmental factors. In this study, we prospectively assessed the diagnostic yield of genomic tools (molecular karyotyping, multi-gene panel and exome sequencing) in a cohort of 337 ID subjects as a first-tier test and compared it with a standard clinical evaluation performed in parallel. Standard clinical evaluation suggested a...
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