Sulman Basit
Sulman Basit
Assistant Professor at CGID, Taibah University
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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
Vitamin D in health and disease: a literature review
S Basit
British journal of biomedical science 70 (4), 161-172, 2013
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
Genetic basis of polycystic ovary syndrome (PCOS): current perspectives
MJ Khan, A Ullah, S Basit
The application of clinical genetics 12, 249, 2019
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
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
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
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
Genetics of clubfoot; recent progress and future perspectives
S Basit, KI Khoshhal
European Journal of Medical Genetics 61 (2), 107-113, 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
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 (10), 1199-1207, 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
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), 1-6, 2011
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 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 (1), 591-595, 2013
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
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
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), 1-10, 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
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
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