All Stories

  1. A homozygous missense mutation in SLC25A16 associated with autosomal recessive isolated fingernail dysplasia in a Pakistani family

    Article • British Journal of Dermatology, December 2017, Wiley

    khadim shah

  2. Sequence variants in nine different genes underlying rare skin disorders in 10 consanguineous families

    Article • International Journal of Dermatology, November 2017, Wiley

    khadim shah

  3. Homozygous SLCO2A1 translation initiation codon mutation in a Pakistani family with recessive isolated congenital nail clubbing

    Article • British Journal of Dermatology, June 2017, Wiley

    Professor Richard A Spritz, khadim shah

  4. Novel sequence variants in the LIPH and LPAR6 genes underlies autosomal recessive woolly hair/hypotrichosis in consanguineous families

    Article • Congenital Anomalies, June 2017, Wiley

    salma sharif, khadim shah

  5. Exome sequencing revealed a splice site variant in the IQCE gene underlying post-axial polydactyly type A restricted to lower limb

    Article • European Journal of Human Genetics, May 2017, Nature

    khadim shah

  6. 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

  7. GLY67ARG substitution in RSPO4 disrupts the WNT signaling pathway due to an abnormal binding pattern with LGRs leading to anonychia

    Article • RSC Advances, January 2017, Royal Society of Chemistry

    khadim shah

  8. Identification and in silico analysis of GALNS mutations causing Morquio A syndrome in eight consanguineous families

    Article • TURKISH JOURNAL OF BIOLOGY, January 2017, The Scientific and Technological Research Council of Turkey

    khadim shah

  9. Recessive progressive symmetric erythrokeratoderma results from a homozygous loss-of-function mutation of KRT83 and is allelic with dominant monilethrix

    Article • Journal of Medical Genetics, December 2016, BMJ

    khadim shah

  10. Mitral regurgitation as a phenotypic manifestation of nonphotosensitive trichothiodystrophy due to a splice variant in MPLKIP

    Article • BMC Medical Genetics, February 2016, Springer Science + Business Media

    khadim shah