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Human Molecular Genetics|February 4, 2014
IFT27, encoding a small GTPase component of IFT particles, is mutated in a consanguineous family with Bardet-Biedl syndromeMohammed A Aldahmesh, Yuanyuan Li, Amal Alhashem, et al.
Molecular Vision|March 20, 2010
Novel mutations in MERTK associated with childhood onset rod-cone dystrophyDonna S Mackay, Robert H Henderson, Panagiotis I Sergouniotis, et al.
Molecular Vision|December 4, 2009
Molecular characterization of retinitis pigmentosa in Saudi ArabiaMohammed A Aldahmesh, Leen Abu Safieh, Hisham Alkuraya, et al.
American Journal of Human Genetics|July 9, 2013
Mutations in LRPAP1 are associated with severe myopia in humansMohammed A Aldahmesh, Arif O Khan, Hisham Alkuraya, et al.
Human Mutation|October 31, 2006
Prevalence and functionality of paucimorphic and private MC4R mutations in a large, unselected European British population, scanned by meltMADGEKhalid K Alharbi, Emmanuel Spanakis, Karen Tan, et al.
Human Genetics|November 24, 2016
Novel phenotypes and loci identified through clinical genomics approaches to pediatric cataractNisha Patel, Deepti Anand, Dorota Monies, et al.
Human Genetics|December 24, 2015
Exome-based case-control association study using extreme phenotype design reveals novel candidates with protective effect in diabetic retinopathyCorina Shtir, Mohammed A Aldahmesh, Saad Al-Dahmash, et al.
Genome Research|July 7, 2005
Mutation scanning by meltMADGE: validations using BRCA1 and LDLR, and demonstration of the potential to identify severe, moderate, silent, rare, and paucimorphic mutations in the general populationKhalid K Alharbi, Mohammed A Aldahmesh, Emmanuel Spanakis, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 11, 2015
Expanding the clinical, allelic, and locus heterogeneity of retinal dystrophiesNisha Patel, Mohammed A Aldahmesh, Hisham Alkuraya, et al.
Genome Biology|November 30, 2016
Characterizing the morbid genome of ciliopathiesRanad Shaheen, Katarzyna Szymanska, Basudha Basu, et al.
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