|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
|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 (5), 515-519, 2008
|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
|A novel insertion mutation in the cartilage-derived morphogenetic protein-1 (CDMP1) gene underlies Grebe-type chondrodysplasia in a consanguineous Pakistani family|
S Basit, SKH Naqvi, N Wasif, G Ali, M Ansar, W Ahmad
BMC medical genetics 9 (1), 1-6, 2008
|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
|Novel mutations in the keratin-74 (KRT74) gene underlie autosomal dominant woolly hair/hypotrichosis in Pakistani families|
N Wasif, S Basit, N Ali, M Ansar, W Ahmad
Human genetics 129 (4), 419-424, 2011
|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
|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: Experimental dermatology 36 (6), 652-654, 2011
|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
|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 (2), 213-220, 2010
|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
|Variants in KIAA0825 underlie autosomal recessive postaxial polydactyly|
I Ullah, N Kakar, I Schrauwen, S Hussain, I Chakchouk, K Liaqat, ...
Human genetics 138 (6), 593-600, 2019
|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
|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
|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
|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
|A novel missense mutation in the EVC gene underlies Ellis‐van Creveld syndrome in a Pakistani family|
N Wasif, M Tariq, W Ahmad
Pediatrics International 52 (2), 240-246, 2010
|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
|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
|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