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Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 7, 2017
Autozygosity reveals recessive mutations and novel mechanisms in dominant genes: implications in variant interpretationDorota Monies, Sateesh Maddirevula, Wesam Kurdi, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 5, 2018
Corrigendum: Autozygosity reveals recessive mutations and novel mechanisms in dominant genes: implications in variant interpretationDorota Monies, Sateesh Maddirevula, Wesam Kurdi, et al.
American Journal of Human Genetics|March 29, 2016
Mutations in SMG9, Encoding an Essential Component of Nonsense-Mediated Decay Machinery, Cause a Multiple Congenital Anomaly Syndrome in Humans and MiceRanad Shaheen, Shams Anazi, Tawfeg Ben-Omran, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 23, 2017
GWAS signals revisited using human knockoutsSateesh Maddirevula, Fatema AlZahrani, Shams Anazi, et al.
American Journal of Human Genetics|May 3, 2011
Human mutations in NDE1 cause extreme microcephaly with lissencephaly [corrected]Fowzan S Alkuraya, Xuyu Cai, Carina Emery, et al.
American Journal of Medical Genetics. Part A|September 15, 2018
Warsaw breakage syndrome: Further clinical and genetic delineationEbba Alkhunaizi, Ranad Shaheen, Sanjay Kumar Bharti, et al.
American Journal of Human Genetics|March 26, 2019
Bi-allelic Mutations in FAM149B1 Cause Abnormal Primary Cilium and a Range of Ciliopathy Phenotypes in HumansRanad Shaheen, Nan Jiang, Fatema Alzahrani, et al.
Hepatology (Baltimore, Md.)|October 10, 2019
Biallelic Mutations in Tetratricopeptide Repeat Domain 26 (Intraflagellar Transport 56) Cause Severe Biliary Ciliopathy in HumansRanad Shaheen, Saud Alsahli, Nour Ewida, et al.
American Journal of Human Genetics|October 2, 2018
ARL3 Mutations Cause Joubert Syndrome by Disrupting Ciliary Protein CompositionSumaya Alkanderi, Elisa Molinari, Ranad Shaheen, et al.
Frontiers in Immunology|December 30, 2021
Complement C5a and Clinical Markers as Predictors of COVID-19 Disease Severity and Mortality in a Multi-Ethnic PopulationFarhan S Cyprian, Muhammad Suleman, Ibrahim Abdelhafez, et al.
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