Khadim Shah
Hayatabad Medical Complex(PK)Yale University(US)
Publications by Year
Research Areas
Skin and Cellular Biology Research, Wnt/β-catenin signaling in development and cancer, RNA regulation and disease, Facial Trauma and Fracture Management, Dermatological and Skeletal Disorders
Most-Cited Works
- → Identification of CACNA1D variants associated with sinoatrial node dysfunction and deafness in additional Pakistani families reveals a clinical significance(2018)46 cited
- → Exome sequencing revealed a splice site variant in the IQCE gene underlying post-axial polydactyly type A restricted to lower limb(2017)45 cited
- Sequence variants in four genes underlying Bardet-Biedl syndrome in consanguineous families.(2017)
- → Novel digenic inheritance of PCDH15 and USH1G underlies profound non-syndromic hearing impairment(2018)27 cited
- → Exome sequencing revealed a novel biallelic deletion in theDCAF17gene underlying Woodhouse Sakati syndrome(2015)25 cited
- → Association of Somatic ATP2A2 Damaging Variants With Grover Disease(2023)20 cited
- → Mechanisms underlying the wound healing and tissue regeneration properties of Chenopodium album(2020)20 cited
- → Molecular and in silico analyses validates pathogenicity of homozygous mutations in the NPR2 gene underlying variable phenotypes of Acromesomelic dysplasia, type Maroteaux(2018)18 cited
- → A novel homozygous mutation disrupting the initiation codon in the SLURP1 gene underlies mal de Meleda in a consanguineous family(2016)18 cited
- → Molecular Mechanisms of Complement System Proteins and Matrix Metalloproteinases in the Pathogenesis of Age-Related Macular Degeneration(2019)17 cited