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Sulman Basit
Sulman Basit
Assistant Professor at the Department of Biochemistry and Molecular Medicine, College of Medicine
Verified email at taibahu.edu.sa
Title
Cited by
Cited by
Year
Genetic basis of polycystic ovary syndrome (PCOS): current perspectives
MJ Khan, A Ullah, S Basit
The application of clinical genetics, 249-260, 2019
2742019
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
2552012
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
2162015
Vitamin D in health and disease: a literature review
S Basit
British journal of biomedical science 70 (4), 161-172, 2013
2092013
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
1302011
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
1192013
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
1002017
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
952009
Genetics of clubfoot; recent progress and future perspectives
S Basit, KI Khoshhal
European Journal of Medical Genetics 61 (2), 107-113, 2018
872018
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
742010
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
582016
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
542012
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
462011
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
432008
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
392017
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
392011
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
342016
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
342013
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
342010
High-resolution SNP genotyping platform identified recurrent and novel CNVs in autism multiplex families
LY AlAyadhi, JA Hashmi, M Iqbal, AM Albalawi, MI Samman, NE Elamin, ...
Neuroscience 339, 561-570, 2016
312016
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