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The Australasian Journal of Dermatology|March 18, 2014
Mutations in the lipase-H gene causing autosomal recessive hypotrichosis and woolly hairSabba Mehmood, Abid Jan, Dost Muhammad, et al.International Journal of Dermatology|December 19, 2015
Disease causing homozygous variants in the human hairless geneSabba Mehmood, Abid Jan, Syed Irfan Raza, et al.Pediatric Research|July 1, 2017
Exome sequencing reveals a novel homozygous splice site variant in the WNT1 gene underlying osteogenesis imperfecta type 3Muhammad Umair, Bader Alhaddad, Afzal Rafique, 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.Human Genetics|July 5, 2018
A variant in LMX1A causes autosomal recessive severe-to-profound hearing impairmentIsabelle Schrauwen, Imen Chakchouk, Khurram Liaqat, et al.Journal of Genetics|January 12, 2018
Ellis-van Creveld syndrome and profound deafness resulted by sequence variants in the EVC/EVC2 and TMC1 genesMuhammad Umair, Heide Seidel, Ishtiaq Ahmed, et al.JPMA. the Journal of the Pakistan Medical Association|January 19, 2020
Association of sequence variants in frizzled-6 with autosomal recessive nail dysplasia (NDNC-10) in Pashtun familiesSaadullah Khan, Anwar Kamal Khan, Malaika Hamid, 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.International Journal of Ophthalmology|December 20, 2021
Novel mutations in PDE6A and CDHR1 cause retinitis pigmentosa in Pakistani familiesMuhammad Dawood, Siying Lin, Taj Ud Din, et al.Biotechnology and Applied Biochemistry|November 26, 2021
Mutation screening of multiple Pakistani MCPH families revealed novel and recurrent protein-truncating mutations of ASPMSadam Hussain, Amjad Nawaz, Malaika Hamid, et al.Pageof 3