| Exome sequencing revealed a splice site variant in the IQCE gene underlying post-axial polydactyly type A restricted to lower limb M Umair, K Shah, B Alhaddad, TB Haack, E Graf, TM Strom, T Meitinger, ... European Journal of Human Genetics 25 (8), 960-965, 2017 | 47 | 2017 |
| Identification of CACNA1D variants associated with sinoatrial node dysfunction and deafness in additional Pakistani families reveals a clinical significance K Liaqat, I Schrauwen, SI Raza, K Lee, S Hussain, I Chakchouk, A Nasir, ... Journal of human genetics 64 (2), 153-160, 2019 | 41 | 2019 |
| Sequence variants in four genes underlying Bardet-Biedl syndrome in consanguineous families A Ullah, M Umair, M Yousaf, SA Khan, K Shah, F Ahmad, Z Azeem, G Ali, ... Molecular Vision 23, 482, 2017 | 29 | 2017 |
| Novel digenic inheritance of PCDH15 and USH1G underlies profound non-syndromic hearing impairment I Schrauwen, I Chakchouk, A Acharya, K Liaqat, Irfanullah, DA Nickerson, ... BMC medical genetics 19, 1-6, 2018 | 28 | 2018 |
| Exome sequencing revealed a novel biallelic deletion in the DCAF17 gene underlying Woodhouse Sakati syndrome RH Ali, K Shah, A Nasir, W Steyaert, PJ Coucke, W Ahmad Clinical genetics 90 (3), 263-269, 2016 | 28 | 2016 |
| Molecular mechanisms of complement system proteins and matrix metalloproteinases in the pathogenesis of age-related macular degeneration N Mansoor, F Wahid, M Azam, K Shah, AI den Hollander, R Qamar, ... Current molecular medicine 19 (10), 705-718, 2019 | 18 | 2019 |
| Recessive progressive symmetric erythrokeratoderma results from a homozygous loss-of-function mutation of KRT83 and is allelic with dominant monilethrix K Shah, M Ansar, FS Khan, W Ahmad, TM Ferrara, RA Spritz Journal of medical genetics 54 (3), 186-189, 2017 | 18 | 2017 |
| Molecular and in silico analyses validates pathogenicity of homozygous mutations in the NPR2 gene underlying variable phenotypes of Acromesomelic dysplasia, type Maroteaux A Zeb, N Shinwari, K Shah, SZT Gilani, S Khan, KW Lee, SI Raza, ... The International Journal of Biochemistry & Cell Biology 102, 76-86, 2018 | 16 | 2018 |
| BBS5 and INPP5E mutations associated with ciliopathy disorders in families from Pakistan S Khan, S Lin, GV Harlalka, A Ullah, K Shah, S Khalid, S Mehmood, ... Annals of Human Genetics 83 (6), 477-482, 2019 | 15 | 2019 |
| A novel mutation in homeobox DNA binding domain of HOXC13 gene underlies pure hair and nail ectodermal dysplasia (ECTD9) in a Pakistani family AK Khan, N Muhammad, A Aziz, SA Khan, K Shah, A Nasir, MA Khan, ... BMC Medical Genetics 18, 1-5, 2017 | 15 | 2017 |
| A homozygous missense mutation in SLC25A16 associated with autosomal recessive isolated fingernail dysplasia in a Pakistani family S Khan, M Ansar, AK Khan, K Shah, N Muhammad, S Shahzad, ... British Journal of Dermatology 178 (2), 556-558, 2018 | 12 | 2018 |
| Novel frameshift mutations in XPC gene underlie xeroderma pigmentosum in Pakistani families A Ijaz, K Shah, A Aziz, FU Rehman, Y Ali, AM Tareen, K Khan, M Ayub, ... Indian Journal of Dermatology 66 (2), 220-222, 2021 | 11 | 2021 |
| Mechanisms underlying the wound healing and tissue regeneration properties of Chenopodium album A Said, N Naeem, S Siraj, T Khan, A Javed, HM Rasheed, W Sajjad, ... 3 Biotech 10, 1-10, 2020 | 11 | 2020 |
| Homozygous SLCO2A1 translation initiation codon mutation in a Pakistani family with recessive isolated congenital nail clubbing K Shah, TM Ferrara, A Jan, M Umair, Irfanullah, S Khan, W Ahmad, ... British Journal of Dermatology 177 (2), 546-548, 2017 | 11 | 2017 |
| Sequence variants in nine different genes underlying rare skin disorders in 10 consanguineous families K Shah, S Mehmood, A Jan, I Abbe, R Hussain Ali, A Khan, MS Chishti, ... International journal of dermatology 56 (12), 1406-1413, 2017 | 10 | 2017 |
| Novel autosomal recessive LAMA3 and PLEC variants underlie junctional epidermolysis bullosa generalized intermediate and epidermolysis bullosa simplex with muscular dystrophy … F Ahmad, K Shah, M Umair, A Jan, S Khan, D Muhammad, S Basit, ... Clinical & Experimental Dermatology 43 (6), 2018 | 9 | 2018 |
| Mitral regurgitation as a phenotypic manifestation of nonphotosensitive trichothiodystrophy due to a splice variant in MPLKIP K Shah, RH Ali, M Ansar, K Lee, MS Chishti, I Abbe, B Li, ... BMC medical genetics 17, 1-9, 2016 | 9 | 2016 |
| Association of Somatic ATP2A2 Damaging Variants With Grover Disease D Seli, KT Ellis, M Goldust, K Shah, R Hu, J Zhou, JM McNiff, KA Choate JAMA dermatology, 2023 | 6 | 2023 |
| Woodhouse–Sakati syndrome in a family is associated with a homozygous start loss mutation in the DCAF17 gene K Shah, A Jan, F Ahmad, S Basit, K Ramzan, W Ahmad Clinical and Experimental Dermatology 45 (2), 159-164, 2020 | 6 | 2020 |
| Biallelic mutations in the LPAR6 gene causing autosomal recessive wooly hair/hypotrichosis phenotype in five Pakistani families GM Khan, N Hassan, N Khan, M Humayun, K Khan, S Khaliq, FU Rehman, ... International Journal of Dermatology 58 (8), 946-952, 2019 | 6 | 2019 |
Saad Ullah KhanAssociate Prof. Kohat Uni of Science & Technology Kohat,Verified email at kust.edu.pk
