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Human Molecular Genetics|July 1, 2015
Identification of a novel MKS locus defined by TMEM107 mutationRanad Shaheen, Agaadir Almoisheer, Eissa Faqeih, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 16, 2014
The clinical utility of molecular karyotyping for neurocognitive phenotypes in a consanguineous populationSarah M Al-Qattan, Salma M Wakil, Shamsa Anazi, 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.
Human Genetics|March 30, 2016
Expanding the clinical and genetic heterogeneity of hereditary disorders of connective tissueAnas M Alazami, Sarah M Al-Qattan, Eissa Faqeih, et al.
Human Mutation|July 14, 2019
Biallelic variants in CTU2 cause DREAM-PL syndrome and impair thiolation of tRNA wobble U34Ranad Shaheen, Paul Mark, Christopher T Prevost, et al.
Annals of Neurology|September 12, 2017
Mutations of KIF14 cause primary microcephaly by impairing cytokinesisAbubakar Moawia, Ranad Shaheen, Sajida Rasool, 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|December 24, 2013
Mutations in CSPP1, encoding a core centrosomal protein, cause a range of ciliopathy phenotypes in humansRanad Shaheen, Hanan E Shamseldin, Catrina M Loucks, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 14, 2012
Autozygome maps dispensable DNA and reveals potential selective bias against nullizygosityHanif G Khalak, Salma M Wakil, Faiqa Imtiaz, et al.
American Journal of Human Genetics|July 25, 2017
Computational Prediction of Position Effects of Apparently Balanced Human Chromosomal RearrangementsCinthya J Zepeda-Mendoza, Jonas Ibn-Salem, Tammy Kammin, et al.
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