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S. Khaliq · SciRah

Researcher profile · Semantic Scholar

S. Khaliq

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S. Khaliq — researcher profile on SciRah

h-index: 29
Works: 111
Citations: 2,619

Most-cited papers

Mutations in a new photoreceptor-pineal gene on 17p cause Leber congenital amaurosis
M. Sohocki, Sara J. Bowne, Lori S. Sullivan, S. Blackshaw +10 more
2000Nature Genetics294 citations Open access
Semantic Scholar
Refined Geographic Distribution of the Oriental ALDH2*504Lys (nee 487Lys) Variant
Hui Li, S. Borinskaya, K. Yoshimura, N. Kal'ina +14 more
2009Annals of Human Genetics288 citations Open access
Semantic Scholar
The phenotype of Leber congenital amaurosis in patients with AIPL1 mutations.
S. Dharmaraj, B. Leroy, M. Sohocki, R. Koenekoop +15 more
2004A M A Archives of Ophthalmology113 citations
Semantic Scholar
Geographically separate increases in the frequency of the derived ADH1B*47His allele in eastern and western Asia.
Hui Li, Namita Mukherjee, Usha Soundararajan, Z. Tarnok +7 more
2007American Journal of Human Genetics96 citations Open access
Semantic Scholar
Identification of novel mutations in the SEMA4A gene associated with retinal degenerative diseases
A. Abid, M. Ismail, S. Mehdi, S. Khaliq
2005Journal of Medical Genetics85 citations Open access
Semantic Scholar
Novel association of RP1 gene mutations with autosomal recessive retinitis pigmentosa
S. Khaliq, A. Abid, M. Ismail, Abdul Hameed +5 more
2005Journal of Medical Genetics84 citations Open access
Semantic Scholar
Locus heterogeneity in autosomal recessive congenital cataracts: linkage to 9q and germline HSF4 mutations
T. Forshew, Colin A. Johnson, S. Khaliq, S. Pasha +8 more
2005Human Genetics80 citations
Semantic Scholar
ATOH7 mutations cause autosomal recessive persistent hyperplasia of the primary vitreous.
L. Prasov, T. Masud, S. Khaliq, S. Mehdi +10 more
2012Human Molecular Genetics76 citations Open access
Semantic Scholar
Y-chromosomal evidence for a limited Greek contribution to the Pathan population of Pakistan
S. Firasat, S. Khaliq, A. Mohyuddin, M. Papaioannou +3 more
2006European Journal of Human Genetics62 citations Open access
Semantic Scholar
The Kalash Genetic Isolate: Ancient Divergence, Drift, and Selection
Q. Ayub, M. Mezzavilla, L. Pagani, Marc Haber +4 more
2015American Journal of Human Genetics57 citations Open access
Semantic Scholar
Reconstruction of human evolutionary tree using polymorphic autosomal microsatellites.
Q. Ayub, Atika Mansoor, M. Ismail, S. Khaliq +9 more
2003American Journal of Physical Anthropology53 citations
Semantic Scholar
HLA polymorphism in six ethnic groups from Pakistan.
A. Mohyuddin, Q. Ayub, S. Khaliq, Atika Mansoor +3 more
2002Tissue Antigens53 citations
Semantic Scholar
p53 Mutations, Polymorphisms, and Haplotypes in Pakistani Ethnic Groups and Breast Cancer Patients
S. Khaliq, Abdul Hameed, T. Khaliq, Q. Ayub +4 more
2000Genetic Testing53 citations
Semantic Scholar
A spectrum of novel NPHS1 and NPHS2 gene mutations in pediatric nephrotic syndrome patients from Pakistan.
A. Abid, S. Khaliq, Saba Shahid, A. Lanewala +8 more
2012Gene51 citations
Semantic Scholar
RP1 protein truncating mutations predominate at the RP1 adRP locus.
A. Payne, E. Vithana, S. Khaliq, Abdul Hameed +8 more
2000Investigative Ophthalmology and Visual Science51 citations
Semantic Scholar
Investigation of the Greek ancestry of populations from northern Pakistan
Atika Mansoor, Kehkashan Mazhar, S. Khaliq, Abdul Hameed +6 more
2004Human Genetics47 citations
Semantic Scholar
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 +2 more
2004Journal of biochemistry and molecular biology44 citations Open access
Semantic Scholar
Gene panel sequencing identifies a likely monogenic cause in 7% of 235 Pakistani families with nephrolithiasis
A. Amar, A. Majmundar, I. Ullah, Ayesha Afzal +14 more
2019Human Genetics42 citations Open access
Semantic Scholar
“Like sugar in milk”: reconstructing the genetic history of the Parsi population
G. Chaubey, Q. Ayub, N. Rai, S. Prakash +21 more
2017Genome Biology38 citations Open access
Semantic Scholar
Mutation screening of Pakistani families with congenital eye disorders.
S. Khaliq, A. Abid, Abdul Hameed, Khalid Anwar +5 more
2003Experimental Eye Research33 citations
Semantic Scholar
Locus for autosomal recessive nonsyndromic persistent hyperplastic primary vitreous.
S. Khaliq, Abdul Hameed, M. Ismail, Khalid Anwar +4 more
2001Investigative Ophthalmology and Visual Science32 citations
Semantic Scholar
Novel locus for autosomal recessive cone-rod dystrophy CORD8 mapping to chromosome 1q12-Q24.
S. Khaliq, Abdul Hameed, M. Ismail, Khalid Anwar +4 more
2000Investigative Ophthalmology and Visual Science32 citations
Semantic Scholar
Association of a Single-Nucleotide Polymorphism in the Promoter Region of the VEGF Gene with the Risk of Renal Cell Carcinoma
S. Ajaz, S. Khaliq, A. Abid, A. Hassan +7 more
2011Genetic Testing and Molecular Biomarkers30 citations
Semantic Scholar
DC-SIGN Interacts with Mycobacterium leprae but Sequence Variation in This Lectin Is Not Associated with Leprosy in the Pakistani Population
Luis B. Barreiro, H. Quach, J. Krahenbuhl, S. Khaliq +5 more
2006Human Immunology29 citations Open access
Semantic Scholar
The association of urinary interferon-gamma inducible protein-10 (IP10/CXCL10) levels with kidney allograft rejection
A. Raza, S. Firasat, S. Khaliq, T. Aziz +5 more
2017Inflammation Research25 citations
Semantic Scholar
Global patterns of variation in allele and haplotype frequencies and linkage disequilibrium across the CYP2E1 gene
Mi-Young Lee, Namita Mukherjee, A. Pakstis, S. Khaliq +5 more
2008The Pharmacogenomics Journal24 citations Open access
Semantic Scholar
A novel locus for autosomal dominant nuclear cataract mapped to chromosome 2p12 in a Pakistani family.
S. Khaliq, Abdul Hameed, M. Ismail, Khalid Anwar +1 more
2001Investigative Ophthalmology and Visual Science19 citations
Semantic Scholar
A new locus for autosomal recessive RP (RP29) mapping to chromosome 4q32-q34 in a Pakistani family.
Abdul Hameed, S. Khaliq, M. Ismail, Khalid Anwar +4 more
2001Investigative Ophthalmology and Visual Science19 citations
Semantic Scholar
The role of crumbs genes in the vertebrate cornea.
J. Beyer, Xin-Ping C. Zhao, R. Yee, S. Khaliq +4 more
2010Investigative Ophthalmology and Visual Science17 citations Open access
Semantic Scholar
Locus heterogeneity and Knobloch syndrome
Sarah Joyce, L. Tee, A. Abid, S. Khaliq +2 more
2010American Journal of Medical Genetics. Part A17 citations
Semantic Scholar
Mapping of a novel type III variant of Knobloch syndrome (KNO3) to chromosome 17q11.2
S. Khaliq, A. Abid, Dominic R. A. White, Colin A. Johnson +6 more
2007American Journal of Medical Genetics. Part A17 citations
Semantic Scholar
Serum vitamin D levels and gene polymorphisms (Fok1 and Apa1) in children with type I diabetes and healthy controls.
Maimoona Nasreen, K. Lone, S. Khaliq, S. Khaliq
2016JPMA. The Journal of the Pakistan Medical Association16 citations
Semantic Scholar
Association of vitamin D receptor gene polymorphisms and risk of urolithiasis: results of a genetic epidemiology study and comprehensive meta-analysis
A. Amar, Ayesha Afzal, Syed Atif Hussain, Athar Hameed +4 more
2019Urolithiasis15 citations
Semantic Scholar
Refinement of the locus for autosomal recessive cone-rod dystrophy (CORD8) linked to chromosome 1q23-q24 in a Pakistani family and exclusion of candidate genes
M. Ismail, A. Abid, Khalid Anwar, S. Mehdi +1 more
2006Journal of Human Genetics15 citations
Semantic Scholar
Monocyte Chemoattractant Protein-1 (MCP-1/CCL2) Levels and Its Association with Renal Allograft Rejection
A. Raza, S. Firasat, S. Khaliq, Abdul Rafay Khan +6 more
2017Immunological Investigations14 citations
Semantic Scholar
Relationship between IQ and academic performance of medical students.
K. Iqbal, Sana R. Chaudhry, H. Lodhi, S. Khaliq +2 more
202113 citations Open access
Semantic Scholar
Screening of the LAMB2, WT1, NPHS1, and NPHS2 Genes in Pediatric Nephrotic Syndrome
A. Abid, Saba Shahid, Madiha Shakoor, A. Lanewala +2 more
2018Frontiers in Genetics12 citations Open access
Semantic Scholar
Analysis of the glutathione S-transferase genes polymorphisms in the risk and prognosis of renal cell carcinomas. Case-control and meta-analysis.
A. Abid, S. Ajaz, Abdul Rafay Khan, Fatima Zehra +8 more
2016Urologic oncology12 citations Open access
Semantic Scholar
HLA class I and II polymorphisms in the Gujjar population from Pakistan
A. Raza, S. Firasat, S. Khaliq, A. Abid +3 more
2013Immunological Investigations12 citations
Semantic Scholar
Primary hyperoxaluria: Comprehensive mutation screening of the disease causing genes and spectrum of disease‐associated pathogenic variants
A. Abid, A. Raza, Abdul Rafay Khan, S. Firasat +6 more
2022Clinical Genetics11 citations
Semantic Scholar
Interleukin 6 Receptor (IL6-R) Gene Polymorphisms Underlie Susceptibility to Rheumatoid Arthritis.
Shoaib A. Ahmed, S. Hussain, A. Ammar, S. Jahan +2 more
2017Clinical Laboratory10 citations
Semantic Scholar
Analysis of CYP2C9 polymorphisms (*2 and *3) in warfarin therapy patients in Pakistan. Association of CYP2C9 polymorphisms (*2 and*3) with warfarin dose, age, PT and INR
Faiza Yasmeen, M. B. Ghafoor, Abdul Wadood Khalid, W. Latif +2 more
2015Journal of Thrombosis and Thrombolysis10 citations
Semantic Scholar
Unique molecular alteration patterns in von Hippel-Lindau (VHL) gene in a cohort of sporadic renal cell carcinoma patients from Pakistan.
S. Khaliq, S. Ajaz, S. Firasat, Saba Shahid +9 more
2014Mutation research10 citations
Semantic Scholar
Association of the ACE-II genotype with the risk of nephrotic syndrome in Pakistani children.
Saba Shahid, A. Abid, S. Mehdi, S. Firasat +4 more
2012Gene10 citations
Semantic Scholar
Analysis of FANCC gene mutations (IVS4+4A>T, del322G, and R548X)in patients with Fanconi anemia in Pakistan.
Iram Aftab, Saima Iram, S. Khaliq, M. Israr +5 more
2017Turkish Journal of Medical Sciences9 citations
Semantic Scholar
Osteopontin promoter polymorphisms and risk of urolithiasis: a candidate gene association and meta-analysis study
A. Amar, Ayesha Afzal, Athar Hameed, Mumtaz Ahmad +4 more
2020BMC Medical Genetics7 citations Open access
Semantic Scholar
A Novel ABCA12 Mutation in Two Families with Congenital Ichthyosis
D. Walsh, S. Shah, M. Simpson, Neil V. Morgan +4 more
2012Scientifica7 citations Open access
Semantic Scholar
RP 1 Protein Truncating Mutations Predominate at the RP 1 adRP Locus
A. Payne, E. Vithana, S. Khaliq, Abdul Hameed +8 more
20007 citations
Semantic Scholar
Association of TP53 codon 72 polymorphism in women suffering from endometriosis from Lahore, Pakistan.
R. Hussain, S. Khaliq, S. M. Raza, S. Khaliq +1 more
2018JPMA. The Journal of the Pakistan Medical Association6 citations
Semantic Scholar
HOGA1 gene pathogenic variants in primary hyperoxaluria type III: Spectrum of pathogenic sequence variants, and phenotypic association
A. Abid, A. Raza, T. Aziz, S. Khaliq
2022Human Mutation5 citations Open access
Semantic Scholar

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S. Mehdi×22
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S. Mehdi — researcher profile on SciRah
A. Abid×20
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A. Abid — researcher profile on SciRah
A. Mohyuddin×12
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A. Mohyuddin — researcher profile on SciRah
S. Mehdi×11
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S. Mehdi — researcher profile on SciRah

×11

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M. Ismail — researcher profile on SciRah

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S. Firasat — researcher profile on SciRah

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Q. Ayub — researcher profile on SciRah

Khalid Anwar×8

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Khalid Anwar — researcher profile on SciRah

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A. Payne — researcher profile on SciRah

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S. Rizvi — researcher profile on SciRah

Abdul Hameed×6

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Abdul Hameed — researcher profile on SciRah

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S. Naqvi — researcher profile on SciRah