Community-based recruitment and exome sequencing indicates high diagnostic yield in adults with intellectual disability.,Molecular Genetics & Genomic Medicine

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Community-based recruitment and exome sequencing indicates high diagnostic yield in adults with intellectual disability.
Molecular Genetics & Genomic Medicine ( IF 1.5 ) Pub Date : 2020-08-07 , DOI: 10.1002/mgg3.1439
Aniko Sabo ₁ , David Murdock ₁ , Shannon Dugan ₁ , Qingchang Meng ₁ , Marie-Claude Gingras ₁ , Jianhong Hu ₁ , Donna Muzny ₁ , Richard Gibbs ₁

Affiliation

Establishing a genetic diagnosis for individuals with intellectual disability (ID) benefits patients and their families as it may inform the prognosis, lead to appropriate therapy, and facilitate access to medical and supportive services. Exome sequencing has been successfully applied in a diagnostic setting, but most clinical exome referrals are pediatric patients, with many adults with ID lacking a comprehensive genetic evaluation.

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