| Mutations in TBC1D24, a gene associated with epilepsy, also cause nonsyndromic deafness DFNB86 AU Rehman, RLP Santos-Cortez, RJ Morell, MC Drummond, T Ito, K Lee, ... The American Journal of Human Genetics 94 (1), 144-152, 2014 | 96 | 2014 |
| Whole exome sequencing identified a novel zinc-finger gene ZNF141 associated with autosomal recessive postaxial polydactyly type A E Klopocki, N Wasif, M Tariq, S Khan, J Hecht, P Krawitz, S Mundlos, ... Journal of medical genetics 50 (1), 47-53, 2013 | 54 | 2013 |
| Novel mutations in G protein-coupled receptor gene (P2RY5) in families with autosomal recessive hypotrichosis (LAH3) Z Azeem, M Jelani, G Naz, M Tariq, N Wasif, S Kamran-ul-Hassan Naqvi, ... Human genetics 123, 515-519, 2008 | 52 | 2008 |
| A novel insertion mutation in the cartilage-derived morphogenetic protein-1 (CDMP1) gene underlies Grebe-type chondrodysplasia in a consanguineous Pakistani … S Basit, SKH Naqvi, N Wasif, G Ali, M Ansar, W Ahmad BMC medical genetics 9, 1-6, 2008 | 43 | 2008 |
| Novel mutations in the keratin-74 (KRT74) gene underlie autosomal dominant woolly hair/hypotrichosis in Pakistani families N Wasif, SKH Naqvi, S Basit, N Ali, M Ansar, W Ahmad Human genetics 129, 419-424, 2011 | 38 | 2011 |
| A novel deletion mutation in LIPH gene causes autosomal recessive hypotrichosis (LAH2) M Jelani, N Wasif, G Ali, MS Chishti, W Ahmad Clinical genetics 74 (2), 184-188, 2008 | 36 | 2008 |
| Mutations in the P2RY5 gene underlie autosomal recessive hypotrichosis in 13 Pakistani families M Tariq, M Ayub, M Jelani, S Basit, G Naz, N Wasif, SI Raza, AK Naveed, ... British Journal of Dermatology 160 (5), 1006-1010, 2009 | 30 | 2009 |
| Mutations in the LPAR6 and LIPH genes underlie autosomal recessive hypotrichosis/woolly hair in 17 consanguineous families from Pakistan S Khan, R Habib, H Mir, G Naz, M Ayub, S Shafique, T Yamin, N Ali, ... Clinical and experimental dermatology 36 (6), 652-654, 2011 | 24 | 2011 |
| Deleterious Variants in WNT10A, EDAR, and EDA Causing Isolated and Syndromic Tooth Agenesis: A Structural Perspective from Molecular Dynamics Simulations A Parveen, SA Khan, MU Mirza, H Bashir, F Arshad, M Iqbal, W Ahmad, ... International Journal of Molecular Sciences 20 (21), 5282, 2019 | 22 | 2019 |
| Exome sequencing revealed a novel loss‐of‐function variant in the GLI3 transcriptional activator 2 domain underlies nonsyndromic postaxial polydactyly M Umair, N Wasif, AM Albalawi, K Ramzan, M Alfadhel, W Ahmad, S Basit Molecular genetics & genomic medicine 7 (7), e00627, 2019 | 21 | 2019 |
| A novel 4-bp insertion mutation in EDA1 gene in a Pakistani family with X-linked hypohidrotic ectodermal dysplasia M Tariq, N Wasif, M Ayub, W Ahmad European Journal of Dermatology 17 (3), 209-212, 2007 | 20 | 2007 |
| Variants in KIAA0825 underlie autosomal recessive postaxial polydactyly I Ullah, N Kakar, I Schrauwen, S Hussain, I Chakchouk, K Liaqat, ... Human genetics 138, 593-600, 2019 | 18 | 2019 |
| University of Washington Center for Mendelian G AU Rehman, RL Santos-Cortez, RJ Morell, MC Drummond, T Ito, K Lee, ... Nickerson DA, Shendure J, Bamshad M, Riazuddin S, Billington N, Khan SN …, 2014 | 18 | 2014 |
| Genetic mapping of a novel hypotrichosis locus to chromosome 7p21. 3–p22. 3 in a Pakistani family and screening of the candidate genes S Basit, G Ali, N Wasif, M Ansar, W Ahmad Human genetics 128, 213-220, 2010 | 16 | 2010 |
| A novel pathogenic missense variant in CNNM4 underlying Jalili syndrome: Insights from molecular dynamics simulations A Parveen, MU Mirza, M Vanmeert, J Akhtar, H Bashir, S Khan, ... Molecular Genetics & Genomic Medicine 7 (9), e902, 2019 | 15 | 2019 |
| A novel deletion mutation in the EDAR gene in a Pakistani family with autosomal recessive hypohidrotic ectodermal dysplasia M Tariq, N Wasif, W Ahmad British Journal of Dermatology 157 (1), 207-209, 2007 | 15 | 2007 |
| Congenital atrichia with papular lesions resulting from novel mutations in human hairless gene in four consanguineous families Z Azeem, N Wasif, S Basit, S Razak, RA Waheed, A Islam, M Ayub, ... The Journal of dermatology 38 (8), 755-760, 2011 | 14 | 2011 |
| A Novel Nonsense Mutation in RSPO4 Gene Underlies Autosomal Recessive Congenital Anonychia in a Pakistani Family N Wasif, W Ahmad Pediatric dermatology 30 (1), 139-141, 2013 | 11 | 2013 |
| Two novel mutations in the gene EDAR causing autosomal recessive hypohidrotic ectodermal dysplasia SK Naqvi, N Wasif, H Javaid, W Ahmad Orthodontics & craniofacial research 14 (3), 156-159, 2011 | 11 | 2011 |
| A novel nonsense variant in SLC24A4 causing a rare form of amelogenesis imperfecta in a Pakistani family SA Khan, MA Khan, N Muhammad, H Bashir, N Khan, N Muhammad, ... BMC Medical Genetics 21, 1-9, 2020 | 9 | 2020 |
