Burden of Mendelian disorders in a large Middle Eastern biobank.

Autor: Aamer W; Department of Human Genetics, Sidra Medicine, Doha, Qatar., Al-Maraghi A; Department of Human Genetics, Sidra Medicine, Doha, Qatar., Syed N; Applied Bioinformatics Core, Sidra Medicine, Doha, Qatar., Gandhi GD; Department of Human Genetics, Sidra Medicine, Doha, Qatar., Aliyev E; Department of Human Genetics, Sidra Medicine, Doha, Qatar., Al-Kurbi AA; Department of Human Genetics, Sidra Medicine, Doha, Qatar., Al-Saei O; Department of Human Genetics, Sidra Medicine, Doha, Qatar., Kohailan M; Department of Human Genetics, Sidra Medicine, Doha, Qatar., Krishnamoorthy N; Department of Human Genetics, Sidra Medicine, Doha, Qatar., Palaniswamy S; Department of Human Genetics, Sidra Medicine, Doha, Qatar., Al-Malki K; Department of Human Genetics, Sidra Medicine, Doha, Qatar., Abbasi S; Department of Human Genetics, Sidra Medicine, Doha, Qatar., Agrebi N; Department of Human Genetics, Sidra Medicine, Doha, Qatar., Abbaszadeh F; Diagnostic Genomic Division, Hamad Medical Corporation, Doha, Qatar., Akil ASA; Department of Human Genetics, Sidra Medicine, Doha, Qatar., Badii R; Diagnostic Genomic Division, Hamad Medical Corporation, Doha, Qatar., Ben-Omran T; Section of Clinical and Metabolic Genetics, Department of pediatrics, Hamad Medical Corporation, Doha, Qatar.; Department of Pediatric, Weill Cornell Medical College, Doha, Qatar.; Division of Genetic & Genomics Medicine, Sidra Medicine, Doha, Qatar., Lo B; Department of Human Genetics, Sidra Medicine, Doha, Qatar.; College of Health and Life Sciences, Hamad Bin Khalifa University, Doha, Qatar., Mokrab Y; Department of Human Genetics, Sidra Medicine, Doha, Qatar. ymokrab@sidra.org.; Department of Genetic Medicine, Weill Cornell Medicine-Qatar, Doha, Qatar. ymokrab@sidra.org.; College of Health Sciences, Qatar University, Doha, Qatar. ymokrab@sidra.org., Fakhro KA; Department of Human Genetics, Sidra Medicine, Doha, Qatar. kfakhro@sidra.org.; College of Health and Life Sciences, Hamad Bin Khalifa University, Doha, Qatar. kfakhro@sidra.org.; Department of Genetic Medicine, Weill Cornell Medicine-Qatar, Doha, Qatar. kfakhro@sidra.org.

Publikováno v: Genome medicine [Genome Med] 2024 Apr 08; Vol. 16 (1), pp. 46. Date of Electronic Publication: 2024 Apr 08.

A recessive variant in SIM2 in a child with complex craniofacial anomalies and global developmental delay.

Autor: Al-Kurbi AA; College of Health and Life Sciences, Hamad Bin Khalifa University, Doha, 34110, Qatar; Department of Human Genetics, Sidra Medicine, 26999, Doha, Qatar., Da'as SI; College of Health and Life Sciences, Hamad Bin Khalifa University, Doha, 34110, Qatar; Department of Human Genetics, Sidra Medicine, 26999, Doha, Qatar., Aamer W; Department of Human Genetics, Sidra Medicine, 26999, Doha, Qatar., Krishnamoorthy N; Department of Human Genetics, Sidra Medicine, 26999, Doha, Qatar., Poggiolini I; Department of Human Genetics, Sidra Medicine, 26999, Doha, Qatar., Abdelrahman D; Department of Human Genetics, Sidra Medicine, 26999, Doha, Qatar., Elbashir N; Department of Human Genetics, Sidra Medicine, 26999, Doha, Qatar., Al-Shabeeb Akil A; Department of Human Genetics, Sidra Medicine, 26999, Doha, Qatar., Glass GE; Division of Plastic and Craniofacial Surgery, Sidra Medicine, 26999, Doha, Qatar., Fakhro KA; College of Health and Life Sciences, Hamad Bin Khalifa University, Doha, 34110, Qatar; Department of Human Genetics, Sidra Medicine, 26999, Doha, Qatar; Department of Genetic Medicine, Weill Cornell Medical College, Doha, 24144, Qatar. Electronic address: kfakhro@sidra.org.

Publikováno v: European journal of medical genetics [Eur J Med Genet] 2022 Apr; Vol. 65 (4), pp. 104455. Date of Electronic Publication: 2022 Feb 16.