Syed Qasim Mehdi, Pakistani geneticist and molecular biologist (Lucknow 13 February 1941 – Lahore 28 September 2016)
His discoveries have shown eight new mutations in the tumour suppressor gene p53 in breast cancer patients, four new genetic loci responsible for night blindness and new genes responsible for non-syndromic deafness and microphthalmia in Pakistani families (until 1998)
CONTRIBUTIONS (7,745 citations)
With D.M. Walsh, S.H. Shah, M.A. Simpson, N.V. Morgan et al. A novel ABCA 12 mutation in two families with congenital ichthyosis. Scientifica (2012)
With S. Khaliq, A. Abid, D.R.A. White, C.A. Johnson et al. Mapping of a novel type III variant of Knobloch syndrome (KNO3) to chromosome 17q112. Amer. J. Med. Genetics Part A 143(23):2768-74, 2007
With A. Mihyuddin, Q. Ayub, P.A. Underhill & C.Tyler-Smith. Detection of novel Y SNPs provides further insights into Y chromosomal variation in Pakistan. J. Human Genetics. 51(4):375-8, 2006
With A. Abid, M. Ismail & S. Khaliq. Identification of novel mutations in the SEMA4A gene associated with retinal degenerative diseases. J. Med. Genetics 43(4):378-81, 2006
With T. Forshew, S. Khaliq, L. Tee, U. Smith et al. Identification of novel TYR and TYRP1 mutations in oculocutaneous albinism. Clinical Genetics 68(2):182-4, 2005
With S. Khaliq, A. Abid, M. Ismail, A. Hameed et al. Novel association of RP1 gene mutations with autosomal recessive retinitis pigments. J. Med. Genetics 42(5):436-8, 2005
With S. Khaliq, A. Hameed, M. Ismail, K. Anwar et al. A novel locus for autosomal dominant nuclear cataract mapped to chromosome 2p12 in a Pakistani family. Invest. Ophth. Vis. Sci 43(7):2083-7, 2002
With S. Khaliq, A. Hameed, M. Ismail et al. A gene for nonsyndromic persistant hyperplastic primary vitreous maps to chromosome 10q11-21 in a Pakistani family. Invest. Ophth. Vis. Sci (2001)
With A. Hameed, S. Khaliq, M. Ismail & K. Anwar. A novel locus for autosomal dominant nuclear cataract mapped to chromosome 2p12-2q13 in a Pakistani family. Am. J. Hum. Genet. 69(4):508, 2001
With S. Khaliq, A. Hameed, M. Ismail, K. Anwar et al. Novel locus for autosomal recessive cone-rod dystrophy CORD8 mapping to chromosome 1q12-q24. Invest. Ophth. Vis. Sci 41(12):3709-12, 2000
With S.S. Bhattacharya, S. Khaliq, A. Hameed, A.M. Payne et al. A new locus for autosomal recessive cone-rod dystrophy mapping to chromosome 1q12-24. Invest. Ophth. Vis. Sci 41(5):195, 2000
With A.M. Payne, S. Khaliq, A. Hameed, M. Ismail et al. A new locus for autosomal recessive retinitis pigmentosa mapping to chromosome 4q32-34. Invest. Ophth. Vis. Sci 41(4):194, 2000
With Q. Ayub, A. Mihyuddin, R. Qamar, K. Mazhar aet al. Identification and characterization of novel human Y-chromosomal microsatellites from sequence database information. Nucleic Acids Research 28(2), 2000
With D.A.R. Bessart, S. Khaliq, A. Hameed, K. Anwar et al. Several autosomal dominant retinitis pigmentosa caused by a novel rhodopsin mutation (Ter 349Glu). Human Mutation 13(1):83, 1999
With A. Hameed, S. Khaliq, M. Ismail, N.D. Ebenezer et al. A novel locus for Leber congenital amaurosis (LCA) with anterior keratoconus mapping to chromosome 17p13. Am. J. Hum. Genet. 65(4):253, 1999