Mutations in a new photoreceptor-pineal gene on 17p cause Leber congenital amaurosis MM Sohocki, SJ Bowne, LS Sullivan, S Blackshaw, CL Cepko, AM Payne, ... Nature genetics 24 (1), 79-83, 2000 | 324 | 2000 |
Refined Geographic Distribution of the Oriental ALDH2*504Lys (nee 487Lys) Variant H Li, S Borinskaya, K Yoshimura, N Kal’Ina, A Marusin, VA Stepanov, ... Annals of human genetics 73 (3), 335-345, 2009 | 313 | 2009 |
Connexin 50 mutation in a family with congenital" zonular nuclear" pulverulent cataract of Pakistani origin V Berry, D Mackay, S Khaliq, PJ Francis, A Hameed, K Anwar, ... Human genetics 105, 168-170, 1999 | 176 | 1999 |
Evidence of RPGRIP1 gene mutations associated with recessive cone-rod dystrophy A Hameed, A Abid, A Aziz, M Ismail, SQ Mehdi, S Khaliq Journal of medical genetics 40 (8), 616-619, 2003 | 140 | 2003 |
The phenotype of Leber congenital amaurosis in patients with AIPL1 mutations S Dharmaraj, BP Leroy, MM Sohocki, RK Koenekoop, I Perrault, K Anwar, ... Archives of ophthalmology 122 (7), 1029-1037, 2004 | 132 | 2004 |
Geographically separate increases in the frequency of the derived ADH1B* 47His allele in eastern and western Asia H Li, N Mukherjee, U Soundararajan, Z Tárnok, C Barta, S Khaliq, ... The American Journal of Human Genetics 81 (4), 842-846, 2007 | 118 | 2007 |
Identification of novel mutations in the SEMA4A gene associated with retinal degenerative diseases A Abid, M Ismail, SQ Mehdi, S Khaliq Journal of medical genetics 43 (4), 378-381, 2006 | 105 | 2006 |
Y-chromosomal evidence for a limited Greek contribution to the Pathan population of Pakistan S Firasat, S Khaliq, A Mohyuddin, M Papaioannou, C Tyler-Smith, ... European Journal of Human Genetics 15 (1), 121-126, 2007 | 96 | 2007 |
Novel association of RP1 gene mutations with autosomal recessive retinitis pigmentosa S Khaliq, A Abid, M Ismail, A Hameed, A Mohyuddin, P Lall, A Aziz, ... Journal of medical genetics 42 (5), 436-438, 2005 | 88 | 2005 |
A novel locus for Leber congenital amaurosis (LCA4) with anterior keratoconus mapping to chromosome 17p13 A Hameed, S Khaliq, M Ismail, K Anwar, ND Ebenezer, T Jordan, ... Investigative ophthalmology & visual science 41 (3), 629-633, 2000 | 88 | 2000 |
Locus heterogeneity in autosomal recessive congenital cataracts: linkage to 9q and germline HSF4 mutations T Forshew, CA Johnson, S Khaliq, S Pasha, C Willis, R Abbasi, L Tee, ... Human genetics 117, 452-459, 2005 | 86 | 2005 |
ATOH7 mutations cause autosomal recessive persistent hyperplasia of the primary vitreous L Prasov, T Masud, S Khaliq, SQ Mehdi, A Abid, ER Oliver, ED Silva, ... Human molecular genetics 21 (16), 3681-3694, 2012 | 80 | 2012 |
P53 mutations, polymorphisms, and haplotypes in Pakistani ethnic groups and breast cancer patients S Khaliq, A Hameed, T Khaliq, Q Ayub, R Qamar, A Mohyuddin, K Mazhar, ... Genetic Testing 4 (1), 23-29, 2000 | 68 | 2000 |
An RFLP map for 2q33‐q37 from multicase mycobacterial and leishmanial disease families: no evidence for an Lsh/Ity/Bcg gene homologue influencing … MA Shaw, S Atkinson, H Dockrell, R Hussain, Z Lins‐Lainson, J Shaw, ... Annals of human genetics 57 (4), 251-271, 1993 | 67 | 1993 |
The Kalash genetic isolate: ancient divergence, drift, and selection Q Ayub, M Mezzavilla, L Pagani, M Haber, A Mohyuddin, S Khaliq, ... The American Journal of Human Genetics 96 (5), 775-783, 2015 | 66 | 2015 |
Association between the angiotensin-converting enzyme gene insertion/deletion polymorphism and essential hypertension in young Pakistani patients M Ismail, N Akhtar, M Nasir, S Firasat, Q Ayub, S Khaliq BMB reports 37 (5), 552-555, 2004 | 66 | 2004 |
RP1 protein truncating mutations predominate at the RP1 adRP locus A Payne, E Vithana, S Khaliq, A Hameed, J Deller, L Abu-Safieh, ... Investigative ophthalmology & visual science 41 (13), 4069-4073, 2000 | 61 | 2000 |
Reconstruction of human evolutionary tree using polymorphic autosomal microsatellites Q Ayub, A Mansoor, M Ismail, S Khaliq, A Mohyuddin, A Hameed, ... American Journal of Physical Anthropology: The Official Publication of the …, 2003 | 60 | 2003 |
A spectrum of novel NPHS1 and NPHS2 gene mutations in pediatric nephrotic syndrome patients from Pakistan A Abid, S Khaliq, S Shahid, A Lanewala, M Mubarak, S Hashmi, J Kazi, ... Gene 502 (2), 133-137, 2012 | 59 | 2012 |
HLA polymorphism in six ethnic groups from Pakistan SQM Mohyuddin A, Q Ayub, S Khaliq, S Rehman Tissue Antigens 59, 492-501, 2002 | 58 | 2002 |