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BMC Medical Genetics|May 9, 2020
A novel nonsense variant in SLC24A4 causing a rare form of amelogenesis imperfecta in a Pakistani familySher Alam Khan, Muhammad Adnan Khan, Nazif Muhammad, et al.
International Journal of Dermatology|February 15, 2023
Biallelic mutations in FLG, TGM1, and STS genes segregated with different types of ichthyoses in eight families of Pakistani originNiamatullah Khan, Khadim Shah, Fozia Fozia, et al.
BMC Medical Genomics|July 3, 2024
Variants in HCFC1 and MN1 genes causing intellectual disability in two Pakistani familiesSyeda Iqra Hussain, Nazif Muhammad, Shahbaz Ali Shah, et al.
The Journal of Gene Medicine|September 18, 2023
Molecular insight into CREBBP and TANGO2 variants causing intellectual disabilitySyeda Iqra Hussain, Nazif Muhammad, Niamatullah Khan, et al.
Biochemical Genetics|March 20, 2025
Truncated Variants in FAM20A and WDR72 Genes Underlie Autosomal Recessive Amelogenesis Imperfecta in Four Pakistani FamiliesSadaqat Ullah, Sher Alam Khan, Samin Jan, et al.
Annals of Human Genetics|December 5, 2025
The Genetic Basis of Neurological Disorders: Missense and Nonsense Variants in Three Pakistani Families With Syndromic Intellectual DisabilityKenza Javed, Nazif Muhammad, Syeda Iqra Hussain, et al.
Frontiers in Neurology|June 12, 2023
Autosomal recessive variants c.953A>C and c.97-1G>C in NSUN2 causing intellectual disability: a molecular dynamics simulation study of loss-of-function mechanismsNazif Muhammad, Syeda Iqra Hussain, Zia Ur Rehman, et al.
BMC Neurology|October 4, 2023
Structural and functional implications of SLC13A3 and SLC9A6 mutations: an in silico approach to understanding intellectual disabilitySyeda Iqra Hussain, Nazif Muhammad, Salah Ud Din Shah, et al.
Genes|May 27, 2023
Biallelic Variants in Seven Different Genes Associated with Clinically Suspected Bardet-Biedl SyndromeHamed Nawaz, Mujahid, Sher Alam Khan, et al.
Human Mutation|July 11, 2022
Biallelic variants in WARS1 cause a highly variable neurodevelopmental syndrome and implicate a critical exon for normal auditory functionSheng-Jia Lin, Barbara Vona, Hillary M Porter, et al.
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