Exome sequencing identifies novel and known mutations in families with intellectual disability

• Main Authors: Memoona Rasheed (Author), Valeed Khan (Author), Ricardo Harripaul (Author), Maimoona Siddiqui (Author), Madiha Amin Malik (Author), Zahid Ullah (Author), Muhammad Zahid (Author), John B. Vincent (Author), Muhammad Ansar (Author)
• Format: Book
• Published: BMC, 2021-08-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background Intellectual disability (ID) is a phenotypically and genetically heterogeneous disorder. Methods In this study, genome wide SNP microarray and whole exome sequencing are used for the variant identification in eight Pakistani families with ID. Beside ID, most of the affected indiv...