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Gene|December 19, 2022
A common missense variant rs874881 of PADI4 gene and rheumatoid arthritis: Genetic association study and in-silico analysisMutshaba Bashir, Wajeeha Mateen, Sadia Khurshid, et al.The International Journal of Neuroscience|October 25, 2022
KIF1A novel frameshift variant p.(Ser887Profs*64) exhibits clinical heterogeneity in a Pakistani family with hereditary sensory and autonomic neuropathy type IICSaima Ghafoor, Muhammad Arshad Rafiq, Syed Tahir Abbas Shah, et al.Journal of Affective Disorders|March 5, 2026
RELN biallelic variant as a candidate risk factor in a consanguineous Pakistani family with bipolar disorder and clinical heterogeneityAisha Nasir Hashmi, Ricardo S Haripaul, Tahir Muhammad, et al.Gene|January 21, 2014
A complex microcephaly syndrome in a Pakistani family associated with a novel missense mutation in RBBP8 and a heterozygous deletion in NRXN1Zehra Agha, Zafar Iqbal, Maleeha Azam, et al.Plos One|November 19, 2014
Exome sequencing identifies three novel candidate genes implicated in intellectual disabilityZehra Agha, Zafar Iqbal, Maleeha Azam, et al.Gene|September 20, 2022
Role of 19 SNPs in 10 genes with type 2 diabetes in the Pakistani populationNetasha Khan, Andrew D Paterson, Delnaz Roshandel, et al.American Journal of Human Genetics|May 14, 2019
Bi-allelic Variants in DYNC1I2 Cause Syndromic Microcephaly with Intellectual Disability, Cerebral Malformations, and Dysmorphic Facial FeaturesMuhammad Ansar, Farid Ullah, Sohail A Paracha, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 15, 2019
De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorderGhayda M Mirzaa, Jessica X Chong, Amélie Piton, et al.Pageof 2