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Molecular Cytogenetics|February 9, 2018
Identification of novel genomic imbalances in Saudi patients with congenital heart diseaseZuhair N Al-Hassnan, Waad Albawardi, Faten Almutairi, et al.
Cell Reports|July 29, 2014
CC2D1A regulates human intellectual and social function as well as NF-κB signaling homeostasisM Chiara Manzini, Lan Xiong, Ranad Shaheen, et al.
Frontiers in Genetics|July 11, 2022
Genomic, Proteomic, and Phenotypic Spectrum of Novel O-Sialoglycoprotein Endopeptidase Variant in Four Affected Individuals With Galloway-Mowat SyndromeMalak Ali Alghamdi, Hicham Benabdelkamel, Afshan Masood, et al.
Physiological Genomics|October 23, 2018
Impact of PYROXD1 deficiency on cellular respiration and correlations with genetic analyses of limb-girdle muscular dystrophy in Saudi Arabia and SudanMadhurima Saha, Hemakumar M Reddy, Mustafa A Salih, et al.
Neurosciences (Riyadh, Saudi Arabia)|December 25, 2019
Pediatric intracranial hypertension. Experience from 2 Tertiary CentersFahad A Bashiri, Hissah K Al Abdulsalam, Saeed M Hassan, et al.
Annals of Human Genetics|June 10, 2021
An identical-by-descent novel splice-donor variant in PRUNE1 causes a neurodevelopmental syndrome with prominent dystonia in two consanguineous Sudanese familiesMahmoud Koko, Ashraf Yahia, Liena E Elsayed, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 4, 2015
Accelerating matchmaking of novel dysmorphology syndromes through clinical and genomic characterization of a large cohortRanad Shaheen, Nisha Patel, Hanan Shamseldin, et al.
American Journal of Human Genetics|March 5, 2013
Mutations in B3GALNT2 cause congenital muscular dystrophy and hypoglycosylation of α-dystroglycanElizabeth Stevens, Keren J Carss, Sebahattin Cirak, et al.
Annals of Human Genetics|February 4, 2022
Genetic diagnosis in Sudanese and Tunisian families with syndromic intellectual disability through exome sequencingAshraf Yahia, Ikhlas Ben Ayed, Ahlam A Hamed, et al.
American Journal of Human Genetics|September 11, 2012
Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of Walker-Warburg syndromeM Chiara Manzini, Dimira E Tambunan, R Sean Hill, et al.
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