| Genetic basis of polycystic ovary syndrome (PCOS): current perspectives MJ Khan, A Ullah, S Basit The application of clinical genetics, 249-260, 2019 | 312 | 2019 |
| Alterations of the CIB2 calcium-and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48 S Riazuddin, IA Belyantseva, APJ Giese, K Lee, AA Indzhykulian, ... Nature genetics 44 (11), 1265-1271, 2012 | 258 | 2012 |
| Exome sequencing reveals MCM8 mutation underlies ovarian failure and chromosomal instability S AlAsiri, S Basit, MA Wood-Trageser, SA Yatsenko, EP Jeffries, U Surti, ... The Journal of clinical investigation 125 (1), 258-262, 2015 | 227 | 2015 |
| Vitamin D in health and disease: a literature review S Basit British journal of biomedical science 70 (4), 161-172, 2013 | 215 | 2013 |
| Loss-of-function mutations of ILDR1 cause autosomal-recessive hearing impairment DFNB42 G Borck, AU Rehman, K Lee, HM Pogoda, N Kakar, S Von Ameln, ... The American Journal of Human Genetics 88 (2), 127-137, 2011 | 129 | 2011 |
| 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 | 122 | 2013 |
| First macrocyclic 3rd-generation ALK inhibitor for treatment of ALK/ROS1 cancer: Clinical and designing strategy update of lorlatinib S Basit, Z Ashraf, K Lee, M Latif European Journal of Medicinal Chemistry 134, 348-356, 2017 | 104 | 2017 |
| A homozygous nonsense mutation in the human desmocollin-3 (DSC3) gene underlies hereditary hypotrichosis and recurrent skin vesicles M Ayub, S Basit, M Jelani, FU Rehman, M Iqbal, M Yasinzai, W Ahmad The American Journal of Human Genetics 85 (4), 515-520, 2009 | 95 | 2009 |
| Genetics of clubfoot; recent progress and future perspectives S Basit, KI Khoshhal European Journal of Medical Genetics 61 (2), 107-113, 2018 | 94 | 2018 |
| Homozygosity mapping reveals mutations of GRXCR1 as a cause of autosomal-recessive nonsyndromic hearing impairment M Schraders, K Lee, J Oostrik, PLM Huygen, G Ali, LH Hoefsloot, ... The American Journal of Human Genetics 86 (2), 138-147, 2010 | 75 | 2010 |
| CIT, a gene involved in neurogenic cytokinesis, is mutated in human primary microcephaly S Basit, KM Al-Harbi, SAM Alhijji, AM Albalawi, E Alharby, A Eldardear, ... Human genetics 135, 1199-1207, 2016 | 60 | 2016 |
| 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 | 55 | 2012 |
| Mutations in WDR62 gene in Pakistani families with autosomal recessive primary microcephaly R Kousar, MJ Hassan, B Khan, S Basit, S Mahmood, A Mir, W Ahmad, ... BMC neurology 11, 1-6, 2011 | 47 | 2011 |
| 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 | 42 | 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 | 40 | 2011 |
| Exome sequencing identified rare variants in genes HSPG2 and ATP2B4 in a family segregating developmental dysplasia of the hip S Basit, AM Albalawi, E Alharby, KI Khoshhal BMC Medical Genetics 18, 1-10, 2017 | 39 | 2017 |
| Homozygous sequence variants in the FKBP10 gene underlie osteogenesis imperfecta in consanguineous families M Umair, A Hassan, A Jan, F Ahmad, M Imran, MI Samman, S Basit, ... Journal of human genetics 61 (3), 207-213, 2016 | 36 | 2016 |
| A novel WDR62 mutation causes primary microcephaly in a Pakistani family MM Memon, SI Raza, S Basit, R Kousar, W Ahmad, M Ansar Molecular biology reports 40, 591-595, 2013 | 33 | 2013 |
| 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 | 33 | 2010 |
| 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 | 32 | 2018 |
Khushnooda RamzanScientist在 kfshrc.edu.sa 的电子邮件经过验证
