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  1. Truncated Variants in FAM20A and WDR72 Genes Underlie Autosomal Recessive Amelogenesis Imperfecta in Four Pakistani Families

    Article • Biochemical Genetics, March 2025, Springer Science + Business Media

    Dr. Sher Alam Khan

  2. Variants in HCFC1 and MN1 genes causing intellectual disability in two Pakistani families

    Article • BMC Medical Genomics, July 2024, Springer Science + Business Media

    Dr. Sher Alam Khan

  3. Brachyolmia, dental anomalies and short stature (DASS): Phenotype and genotype analyses of Egyptian and Pakistani patients

    Article • Heliyon, January 2024, Elsevier

    Dr. Sher Alam Khan

  4. Structural and functional implications of SLC13A3 and SLC9A6 mutations: an in silico approach to understanding intellectual disability

    Article • BMC Neurology, October 2023, Springer Science + Business Media

    Dr. Sher Alam Khan

  5. Molecular insight into CREBBP and TANGO2 variants causing intellectual disability

    Article • The Journal of Gene Medicine, September 2023, Wiley

    Dr. Sher Alam Khan

  6. 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 mechanisms

    Article • Frontiers in Neurology, May 2023, Frontiers

    Dr. Sher Alam Khan

  7. A novel frameshift variant in UBA2 causing split-hand/foot malformations in a Pakistani family

    Article • Human Genome Variation, May 2023, Springer Science + Business Media

    Dr. Sher Alam Khan

  8. Biallelic Variants in Seven Different Genes Associated with Clinically Suspected Bardet–Biedl Syndrome

    Article • Genes, May 2023, MDPI AG

    Dr. Sher Alam Khan, Misbahuddin Rafeeq

  9. Biallelic mutations in FLG, TGM1, and STS genes segregated with different types of ichthyoses in eight families of Pakistani origin

    Article • International Journal of Dermatology, February 2023, Wiley

    Dr. Sher Alam Khan

  10. The Expansion of the Spectrum in Stuttering Disorders to a Novel ARMC Gene Family (ARMC3)

    Article • Genes, December 2022, MDPI AG

    Dr. Sher Alam Khan

  11. Biallelic variants in WARS1 cause a highly variable neurodevelopmental syndrome and implicate a critical exon for normal auditory function

    Article • Human Mutation, July 2022, Wiley

    Dr. Sher Alam Khan

  12. Detection of Novel Biallelic Causative Variants in COL7A1 Gene by Whole-Exome Sequencing, Resulting in Congenital Recessive Dystrophic Epidermolysis Bullosa in Three Unrelated Families

    Article • Diagnostics, June 2022, MDPI AG

    Dr. Sher Alam Khan

  13. The First Report of a Missense Variant in RFX2 Causing Non-Syndromic Tooth Agenesis in a Consanguineous Pakistani Family

    Article • Frontiers in Genetics, January 2022, Frontiers

    Dr. Sher Alam Khan

  14. Novel splicing‐site mutation in DCAF17 gene causing Woodhouse‐Sakati syndrome in a large consanguineous family

    Article • Journal of Clinical Laboratory Analysis, December 2021, Wiley

    Dr. Sher Alam Khan

  15. Whole Exome Sequencing Confirms Molecular Diagnostics of Three Pakhtun Families With Autosomal Recessive Epidermolysis Bullosa

    Article • Frontiers in Pediatrics, August 2021, Frontiers

    Dr. Sher Alam Khan

  16. Novel Homozygous Mutations in the Genes TGM1, SULT2B1, SPINK5 and FLG in Four Families Underlying Congenital Ichthyosis

    Article • Genes, March 2021, MDPI AG

    Dr. Sher Alam Khan

  17. Genetic Spectrum of Syndromic and Non-Syndromic Hearing Loss in Pakistani Families

    Article • Genes, November 2020, MDPI AG

    Dr. Sher Alam Khan

  18. Homozygous variants of EDAR underlying hypohidrotic ectodermal dysplasia in three consanguineous families

    Article • European Journal of Dermatology, August 2020, John Libbey Eurotext

    Asmat Ullah, Dr. Sher Alam Khan

  19. A novel nonsense variant in SLC24A4 causing a rare form of amelogenesis imperfecta in a Pakistani family

    Article • BMC Medical Genetics, May 2020, Springer Science + Business Media

    Dr. Sher Alam Khan

  20. Deleterious Variants in WNT10A, EDAR, and EDA Causing Isolated and Syndromic Tooth Agenesis: A Structural Perspective from Molecular Dynamics Simulations

    Article • International Journal of Molecular Sciences, October 2019, MDPI AG

    Mr Muhammad Usman Mirza, Dr. Sher Alam Khan

  21. Biallelic mutations in the LPAR 6 gene causing autosomal recessive wooly hair/hypotrichosis phenotype in five Pakistani families

    Article • International Journal of Dermatology, May 2019, Wiley

    Dr. Sher Alam Khan

  22. Association of sequence variants in frizzled-6 with autosomal recessive nail dysplasia (NDNC-10) in Pashtun families

    Article • Journal of the Pakistan Medical Association, January 2019, Pakistan Medical Association

    Dr. Sher Alam Khan

  23. Mutation in Phospholipase C, δ1 (PLCD1) gene underlies hereditary leukonychia in a Pashtun family and review of the literature

    Article • Balkan Journal of Medical Genetics, October 2018, De Gruyter

    Dr. Sher Alam Khan

  24. A novel mutation in the HPGD gene causing primary hypertrophic osteoarthropathy with digital clubbing in a Pakistani family

    Article • Annals of Human Genetics, December 2017, Wiley

    Dr Sulman Basit, Dr. Sher Alam Khan

  25. Novel sequence variants in the MKKS gene cause Bardet-Biedl syndrome with intra- and inter-familial variable phenotypes

    Article • Congenital Anomalies, December 2017, Wiley

    Asmat Ullah, Dr. Sher Alam Khan

  26. Molecular Genetics of Isolated Acromesomelic Dysplasia

    Article • August 2017, Wiley

    Dr. Sher Alam Khan

  27. A novel mutation in homeobox DNA binding domain of HOXC13 gene underlies pure hair and nail ectodermal dysplasia (ECTD9) in a Pakistani family

    Article • BMC Medical Genetics, April 2017, Springer Science + Business Media

    khadim shah, Dr. Sher Alam Khan

  28. Genetics of human Bardet–Biedl syndrome, an updates

    Article • Clinical Genetics, February 2016, Wiley

    Dr. Sher Alam Khan