‪Dr. Shagufta Khaliq, Dir. Research, UCMD-UOL. Ex Tenured Professor, UHS-LHR‬

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Citations	3251	903
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Co-authors

Syed Qasim MehdiHEC Distinguished National ProfessorVerified email at comsats.net.pk
Aiysha AbidCentre for Human Genetics and Molecular Medicine, SIUT, KarachiVerified email at siut.org
Dr. Abdul HameedInstitute of Biomedical and Genetic Engineering (IBGE), Islamabad, PakistanVerified email at ibge.edu.pk
Dr Muhammad IsmailInstitute of Biomedical and Genetic Engineering, IslamabadVerified email at iiu.edu.pk
aisha mohyuddinShifa College of Medicine, Islamabad, PakistanVerified email at shifacollege.edu
Qasim AyubWellcome Trust Sanger InstituteVerified email at sanger.ac.uk
Annette PayneLecturer Brunel UniversityVerified email at brunel.ac.uk
Atika MansoorVerified email at ibge.edu.pk
Ali AmarLecturer, Institute of Allied Health Sciences, University of Health Sciences, Lahore, PakistanVerified email at uhs.edu.pk
Raheel QamarHead of S&T Sector, ICESCO,Tenured Professor of Biochemistry & Molecular Biology, Ex-Rector COMSATSVerified email at comsats.edu.pk
Eamonn MaherUniversity of CambridgeVerified email at medschl.cam.ac.uk
Sadia Ajaz, PhD.University of Health Sciences, Lahore-Pakistan.Verified email at uhs.edu.pk
Prof. Dr. Muhammed MubarakProfessor of Pathology and Head of Histopathology Department, Sindh Institute of Urology andVerified email at siut.org
Ali Raza, Ph.D.Sindh Institute of Urology and Transplantation, Karachi-PakistanVerified email at siut.org
David BirchChief Scientific and Executive Officer, Retina Foundation of the SouthwestVerified email at retinafoundation.org
Massimo MezzavillaDepartment of Biology, University of Padova, ItalyVerified email at unipd.it
Saba ShahidNational Institute of Blood Diseases and Bone Marrow TransplantationVerified email at nibd.edu.pk
Alan BirdMoorfields eye hospitalVerified email at ucl.ac.uk
Luca PaganiFull Professor, Department of Biology, University of Padova, ItalyVerified email at unipd.it
Madiha Shakooruniversity of health siencesVerified email at uhs.edu.pk

Dr. Shagufta Khaliq, Dir. Research, UCMD-UOL. Ex Tenured Professor, UHS-LHR

University College of Medicine & Dentistry-The University of Lahore

Verified email at ucm.uol.edu.pk

Disease & Population Genetics


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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	323	2000
Refined Geographic Distribution of the Oriental ALDH2504Lys* (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	308	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	127	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	102	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	95	2007
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
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	87	2005
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	77	2012
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	69	1993
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
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	67	2004
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	65	2015
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	57	2002

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