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Human Molecular Genetics|November 2, 2014
A founder CEP120 mutation in Jeune asphyxiating thoracic dystrophy expands the role of centriolar proteins in skeletal ciliopathiesRanad Shaheen, Miriam Schmidts, Eissa Faqeih, et al.American Journal of Human Genetics|March 26, 2013
Mutations in EOGT confirm the genetic heterogeneity of autosomal-recessive Adams-Oliver syndromeRanad Shaheen, Mona Aglan, Kim Keppler-Noreuil, et al.BMC Neurology|July 17, 2016
Hyperekplexia, microcephaly and simplified gyral pattern caused by novel ASNS mutations, case reportMohammed Zain Seidahmed, Mustafa A Salih, Omer B Abdulbasit, et al.American Journal of Medical Genetics. Part A|February 5, 2016
ADAT3-related intellectual disability: Further delineation of the phenotypeAyman W El-Hattab, Mohammed A Saleh, Amal Hashem, et al.Human Mutation|July 30, 2015
Matching two independent cohorts validates DPH1 as a gene responsible for autosomal recessive intellectual disability with short stature, craniofacial, and ectodermal anomaliesCatrina M Loucks, Jillian S Parboosingh, Ranad Shaheen, et al.American Journal of Human Genetics|May 20, 2014
Neu-Laxova syndrome, an inborn error of serine metabolism, is caused by mutations in PHGDHRanad Shaheen, Zuhair Rahbeeni, Amal Alhashem, et al.European Journal of Human Genetics : EJHG|November 22, 2012
Genomic analysis of Meckel-Gruber syndrome in Arabs reveals marked genetic heterogeneity and novel candidate genesRanad Shaheen, Eissa Faqeih, Muneera J Alshammari, et al.Journal of Medical Genetics|April 6, 2021
Mutations in phospholipase C eta-1 (PLCH1) are associated with holoprosencephalyIchrak Drissi, Emily Fletcher, Ranad Shaheen, et al.Journal of Medical Genetics|February 26, 2015
Positional mapping of PRKD1, NRP1 and PRDM1 as novel candidate disease genes in truncus arteriosusRanad Shaheen, Amal Al Hashem, Mohammed H Alghamdi, et al.American Journal of Human Genetics|July 31, 2012
POC1A truncation mutation causes a ciliopathy in humans characterized by primordial dwarfismRanad Shaheen, Eissa Faqeih, Hanan E Shamseldin, et al.Pageof 9