| Genetics of human Bardet–Biedl syndrome, an updates SA Khan, N Muhammad, MA Khan, A Kamal, ZU Rehman, S Khan Clinical genetics 90 (1), 3-15, 2016 | 173 | 2016 |
| Mutations in KARS, encoding lysyl-tRNA synthetase, cause autosomal-recessive nonsyndromic hearing impairment DFNB89 RLP Santos-Cortez, K Lee, Z Azeem, PJ Antonellis, LM Pollock, S Khan, ... The American Journal of Human Genetics 93 (1), 132-140, 2013 | 119 | 2013 |
| Novel candidate genes and variants underlying autosomal recessive neurodevelopmental disorders with intellectual disability RLP Santos-Cortez, V Khan, FS Khan, ZN Mughal, I Chakchouk, K Lee, ... Human genetics 137, 735-752, 2018 | 59 | 2018 |
| 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 |
| A novel homozygous missense mutation in WNT10B in familial split‐hand/foot malformation S Khan, S Basit, FK Zimri, N Ali, G Ali, M Ansar, W Ahmad Clinical genetics 82 (1), 48-55, 2012 | 54 | 2012 |
| Mutations of GIPC3 cause nonsyndromic hearing loss DFNB72 but not DFNB81 that also maps to chromosome 19p AU Rehman, K Gul, RJ Morell, K Lee, ZM Ahmed, S Riazuddin, RA Ali, ... Human genetics 130, 759-765, 2011 | 54 | 2011 |
| FZD6 encoding the Wnt receptor frizzled 6 is mutated in autosomal‐recessive nail dysplasia G Naz, SM Pasternack, C Perrin, M Mattheisen, M Refke, S Khan, A Gul, ... British Journal of Dermatology, 2012 | 49 | 2012 |
| Novel mutations in natriuretic peptide receptor-2 gene underlie acromesomelic dysplasia, type maroteaux S Khan, RH Ali, S Abbasi, M Nawaz, N Muhammad, W Ahmad BMC medical genetics 13, 1-8, 2012 | 45 | 2012 |
| Multi drug resistant Pseudomonas aeruginosa: pathogen burden and associated antibiogram in a tertiary care hospital of Pakistan W Ullah, M Qasim, H Rahman, F Bari, S Khan, ZU Rehman, Z Khan, ... Microbial pathogenesis 97, 209-212, 2016 | 35 | 2016 |
| Mutation Analysis of the ASPM Gene in 18 Pakistani Families With Autosomal Recessive Primary Microcephaly R Kousar, H Nawaz, M Khurshid, G Ali, SU Khan, H Mir, M Ayub, A Wali, ... Journal of child neurology 25 (6), 715-720, 2010 | 34 | 2010 |
| The molecular genetics of autosomal recessive nonsyndromic intellectual disability: a mutational continuum and future recommendations MA Khan, S Khan, C Windpassinger, M Badar, Z Nawaz, RM Mohammad Annals of Human genetics 80 (6), 342-368, 2016 | 31 | 2016 |
| Pakistan genetic mutation database (PGMD); a centralized Pakistani mutome data source I Qasim, B Ahmad, MA Khan, N Khan, N Muhammad, S Basit, S Khan European journal of medical genetics 61 (4), 204-208, 2018 | 30 | 2018 |
| Novel homozygous mutations in the genes ARL6 and BBS10 underlying Bardet–Biedl syndrome S Khan, I Ullah, M Touseef, S Basit, MN Khan, W Ahmad Gene 515 (1), 84-88, 2013 | 30 | 2013 |
| A novel splice site mutation in gene C2orf37 underlying Woodhouse–Sakati syndrome (WSS) in a consanguineous family of Pakistani origin R Habib, S Basit, S Khan, MN Khan, W Ahmad Gene 490 (1-2), 26-31, 2011 | 30 | 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 | 30 | 2009 |
| Novel homozygous mutations in the WNT10B gene underlying autosomal recessive split hand/foot malformation in three consanguineous families A Aziz, S Khan, FK Zimri, N Muhammad, S Rashid, W Ahmad Gene 534 (2), 265-271, 2014 | 29 | 2014 |
| Homozygous Sequence Variants in the NPR2 Gene Underlying Acromesomelic Dysplasia Maroteaux Type (AMDM) in Consanguineous Families AW Irfanullah, Umair M, Khan S Annals of Human Genetics, 2015 | 28 | 2015 |
| Novel TMPRSS3 variants in Pakistani families with autosomal recessive non‐syndromic hearing impairment K Lee, S Khan, A Islam, M Ansar, PB Andrade, S Kim, RLP Santos‐Cortez, ... Clinical genetics 82 (1), 56-63, 2012 | 25 | 2012 |
| Genetics of Human Isolated Hereditary Nail Disorders AW Khan S, Basit S, Habib R, Kamal A, Muhammad N Br J Dermatol 173 (4), 922-929, 2015 | 24 | 2015 |
| 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 |
Sulman BasitAssistant Professor at the Department of Biochemistry and Molecular Medicine, College of MedicineVerified email at taibahu.edu.sa
