| METTL1-mediated m7G modification of Arg-TCT tRNA drives oncogenic transformation EA Orellana, Q Liu, E Yankova, M Pirouz, E De Braekeleer, W Zhang, ... Molecular Cell, 2021 | 191 | 2021 |
| Adenylate cyclase 1 (ADCY1) mutations cause recessive hearing impairment in humans and defects in hair cell function and hearing in zebrafish RLP Santos-Cortez, K Lee, AP Giese, M Ansar, M Amin-Ud-Din, K Rehn, ... Human molecular genetics 23 (12), 3289-3298, 2014 | 64 | 2014 |
| 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), 44, 2012 | 45 | 2012 |
| Novel homozygous sequence variants in the GDF5 gene underlie acromesomelic dysplasia type‐grebe in consanguineous families M Umair, A Rafique, A Ullah, F Ahmad, RH Ali, A Nasir, M Ansar, ... Congenital anomalies 57 (2), 45-51, 2017 | 32 | 2017 |
| 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 |
| A novel deletion mutation in the DSG4 gene underlies autosomal recessive hypotrichosis with variable phenotype in two unrelated consanguineous families A Ullah, SI Raza, RH Ali, AK Naveed, A Jan, SDA Rizvi, R Satti, W Ahmad Clinical and experimental dermatology 40 (1), 78-84, 2015 | 27 | 2015 |
| In silico analysis of missense mutations in LPAR6 reveals abnormal phospholipid signaling pathway leading to hypotrichosis SI Raza, D Muhammad, A Jan, RH Ali, M Hassan, W Ahmad, S Rashid PloS one 9 (8), e104756, 2014 | 24 | 2014 |
| Novel mutations in the gene HOXC13 underlying pure hair and nail ectodermal dysplasia in consanguineous families RH Ali, R Habib, N Ud‐Din, MN Khan, M Ansar, W Ahmad British Journal of Dermatology 169 (2), 478-480, 2013 | 16 | 2013 |
| Whole-exome sequencing revealed a nonsense mutation in STKLD1 causing non-syndromic pre-axial polydactyly type A affecting only upper limb. M Umair, M Bilal, RH Ali, B Alhaddad, F Ahmad, TB Haack, M Alfadhel, ... Clinical genetics, 2019 | 14 | 2019 |
| A novel insertion and deletion mutation in the BHLHA9 underlies polydactyly and mesoaxial synostotic syndactyly with phalangeal reduction A Ullah, RH Ali, AI Majeed, K Liaqat, PW Shah, B Khan, M Bilal, M Umair, ... European journal of medical genetics 62 (4), 278-281, 2019 | 12 | 2019 |
| Further evidence of involvement of TMEM132E in autosomal recessive nonsyndromic hearing impairment K Liaqat, S Hussain, M Bilal, A Nasir, A Acharya, RH Ali, S Nawaz, ... Journal of human genetics 65 (2), 187-192, 2020 | 9 | 2020 |
| 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 | 9 | 2017 |
| 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, JD Smith, ... BMC medical genetics 17 (1), 13, 2016 | 9 | 2016 |
| A novel biallelic variant further delineates PRDX3-related autosomal recessive cerebellar ataxia MM Rafeeq, M Umair, M Bilal, AH Habib, A Waqas, ZM Sain, MZ Alam, ... neurogenetics, 1-6, 2022 | 6 | 2022 |
| Novel homozygous sequence variants in the CDH3 gene encoding P-cadherin underlying hypotrichosis with juvenile macular dystrophy in consanguineous families F Ahmad, RH Ali, D Muhammad, A Nasir, M Umair, SM Wakil, K Ramzan, ... European Journal of Dermatology 26 (6), 610-612, 2016 | 6 | 2016 |
| Genetic analysis of Xp22. 3 micro-deletions in seventeen families segregating isolated form of X-linked ichthyosis RH Ali, S Mahmood, SI Raza, A Aziz, SKH Naqvi, N Wasif, M Ansar, ... Journal of dermatological science 80 (3), 214-217, 2015 | 3 | 2015 |
