Raheel Qamar

Raheel Qamar

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Raheel Qamar

Publications by authors named "Raheel Qamar"

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Implementation of public health genomics in Pakistan.

Eur J Hum Genet 2019 Oct 17;27(10):1485-1492. Epub 2019 May 17.

Public Health Genomics, Department of Epidemiology and Preventive Medicine, School of Public Health and Preventive Medicine, Monash University, Melbourne, VIC, Australia.

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http://dx.doi.org/10.1038/s41431-019-0428-zDOI Listing
October 2019

A 2-year retrospective study of viral and host-associated risk factors in Pakistani hepatocellular carcinoma patients.

Eur J Gastroenterol Hepatol 2019 Sep;31(9):1103-1109

Translational Genomics Laboratory, Department of Biosciences, COMSATS University Islamabad, Islamabad.

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http://dx.doi.org/10.1097/MEG.0000000000001384DOI Listing
September 2019

Molecular Mechanisms of Complement System Proteins and Matrix Metalloproteinases in the Pathogenesis of Age-Related Macular Degeneration.

Curr Mol Med 2019 Aug 28. Epub 2019 Aug 28.

Department of Biotechnology, COMSATS University Islamabad, Abbottabad Campus, 22060. Pakistan.

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http://dx.doi.org/10.2174/1566524019666190828150625DOI Listing
August 2019

Association of IGF1 and VEGFA polymorphisms with diabetic retinopathy in Pakistani population.

Acta Diabetol 2019 Aug 31. Epub 2019 Aug 31.

Translational Genomics Laboratory, COMSATS University Islamabad, Park Road, Tarlai Kalan, Islamabad, 45600, Pakistan.

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http://dx.doi.org/10.1007/s00592-019-01407-5DOI Listing
August 2019

Association of rs10490924 in ARMS2/HTRA1 with age-related macular degeneration in the Pakistani population.

Ann Hum Genet 2019 Jul 20;83(4):285-290. Epub 2019 Mar 20.

Transalational Genomics Laboratory, Department of Biosciences, COMSATS University Islamabad, Pakistan.

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http://dx.doi.org/10.1111/ahg.12311DOI Listing
July 2019

MTHFR polymorphisms as risk for male infertility in Pakistan and its comparison with socioeconomic status in the world.

Per Med 2019 01 23;16(1):35-49. Epub 2018 Nov 23.

Institute of Biomedical & Genetic Engineering (IB & GE), 24 Mauve Area, G9/1, Islamabad 44000, Pakistan.

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http://dx.doi.org/10.2217/pme-2018-0045DOI Listing
January 2019

The adverse role of excess negative ions in reducing the photoluminescence from water soluble MAA-CdSe/ZnS quantum dots in various phosphate buffers.

Phys Chem Chem Phys 2018 Nov;20(46):29446-29451

Department of Biosciences, COMSATS University Islamabad (CUI), Park Road, Islamabad 45600, Pakistan.

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http://dx.doi.org/10.1039/c8cp06213gDOI Listing
November 2018

ARG1 Gene Polymorphisms and Their Association in Individuals with Essential Hypertension: A Case-Control Study.

DNA Cell Biol 2018 Jul 14;37(7):609-616. Epub 2018 May 14.

1 Department of Biosciences, COMSATS Institute of Information Technology , Islamabad, Pakistan .

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http://dx.doi.org/10.1089/dna.2018.4222DOI Listing
July 2018

CBS mutations and MTFHR SNPs causative of hyperhomocysteinemia in Pakistani children.

Mol Biol Rep 2018 Jun 29;45(3):353-360. Epub 2018 Mar 29.

COMSATS Institute of Information Technology, Park Road, Tarlai Kalan, Islamabad, 45600, Pakistan.

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http://dx.doi.org/10.1007/s11033-018-4169-9DOI Listing
June 2018

Variants in the PRPF8 Gene are Associated with Glaucoma.

Mol Neurobiol 2018 May 13;55(5):4504-4510. Epub 2017 Jul 13.

Department of Ophthalmology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1007/s12035-017-0673-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5884903PMC
May 2018

midigenes reveal the full splice spectrum of all reported noncanonical splice site variants in Stargardt disease.

Genome Res 2018 01 21;28(1):100-110. Epub 2017 Nov 21.

Department of Human Genetics and Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.

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http://dx.doi.org/10.1101/gr.226621.117DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5749174PMC
January 2018

Identification of novel potential genetic predictors of urothelial bladder carcinoma susceptibility in Pakistani population.

Fam Cancer 2017 Oct;16(4):577-594

Department of Biosciences, Faculty of Science, COMSATS Institute of Information Technology, Park Road, Tarlai Kalan, Islamabad, 45600, Pakistan.

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http://dx.doi.org/10.1007/s10689-017-9991-zDOI Listing
October 2017

Genetic association study of exfoliation syndrome identifies a protective rare variant at LOXL1 and five new susceptibility loci.

Authors:
Tin Aung Mineo Ozaki Mei Chin Lee Ursula Schlötzer-Schrehardt Gudmar Thorleifsson Takanori Mizoguchi Robert P Igo Aravind Haripriya Susan E Williams Yury S Astakhov Andrew C Orr Kathryn P Burdon Satoko Nakano Kazuhiko Mori Khaled Abu-Amero Michael Hauser Zheng Li Gopalakrishnan Prakadeeswari Jessica N Cooke Bailey Alina Popa Cherecheanu Jae H Kang Sarah Nelson Ken Hayashi Shin-Ichi Manabe Shigeyasu Kazama Tomasz Zarnowski Kenji Inoue Murat Irkec Miguel Coca-Prados Kazuhisa Sugiyama Irma Järvelä Patricio Schlottmann S Fabian Lerner Hasnaa Lamari Yildirim Nilgün Mukharram Bikbov Ki Ho Park Soon Cheol Cha Kenji Yamashiro Juan C Zenteno Jost B Jonas Rajesh S Kumar Shamira A Perera Anita S Y Chan Nino Kobakhidze Ronnie George Lingam Vijaya Tan Do Deepak P Edward Lourdes de Juan Marcos Mohammad Pakravan Sasan Moghimi Ryuichi Ideta Daniella Bach-Holm Per Kappelgaard Barbara Wirostko Samuel Thomas Daniel Gaston Karen Bedard Wenda L Greer Zhenglin Yang Xueyi Chen Lulin Huang Jinghong Sang Hongyan Jia Liyun Jia Chunyan Qiao Hui Zhang Xuyang Liu Bowen Zhao Ya-Xing Wang Liang Xu Stéphanie Leruez Pascal Reynier George Chichua Sergo Tabagari Steffen Uebe Matthias Zenkel Daniel Berner Georg Mossböck Nicole Weisschuh Ursula Hoja Ulrich-Christoph Welge-Luessen Christian Mardin Panayiota Founti Anthi Chatzikyriakidou Theofanis Pappas Eleftherios Anastasopoulos Alexandros Lambropoulos Arkasubhra Ghosh Rohit Shetty Natalia Porporato Vijayan Saravanan Rengaraj Venkatesh Chandrashekaran Shivkumar Narendran Kalpana Sripriya Sarangapani Mozhgan R Kanavi Afsaneh Naderi Beni Shahin Yazdani Alireza Lashay Homa Naderifar Nassim Khatibi Antonio Fea Carlo Lavia Laura Dallorto Teresa Rolle Paolo Frezzotti Daniela Paoli Erika Salvi Paolo Manunta Yosai Mori Kazunori Miyata Tomomi Higashide Etsuo Chihara Satoshi Ishiko Akitoshi Yoshida Masahide Yanagi Yoshiaki Kiuchi Tsutomu Ohashi Toshiya Sakurai Takako Sugimoto Hideki Chuman Makoto Aihara Masaru Inatani Masahiro Miyake Norimoto Gotoh Fumihiko Matsuda Nagahisa Yoshimura Yoko Ikeda Morio Ueno Chie Sotozono Jin Wook Jeoung Min Sagong Kyu Hyung Park Jeeyun Ahn Marisa Cruz-Aguilar Sidi M Ezzouhairi Abderrahman Rafei Yaan Fun Chong Xiao Yu Ng Shuang Ru Goh Yueming Chen Victor H K Yong Muhammad Imran Khan Olusola O Olawoye Adeyinka O Ashaye Idakwo Ugbede Adeola Onakoya Nkiru Kizor-Akaraiwe Chaiwat Teekhasaenee Yanin Suwan Wasu Supakontanasan Suhanya Okeke Nkechi J Uche Ifeoma Asimadu Humaira Ayub Farah Akhtar Ewa Kosior-Jarecka Urszula Lukasik Ignacio Lischinsky Vania Castro Rodolfo Perez Grossmann Gordana Sunaric Megevand Sylvain Roy Edward Dervan Eoin Silke Aparna Rao Priti Sahay Pablo Fornero Osvaldo Cuello Delia Sivori Tamara Zompa Richard A Mills Emmanuelle Souzeau Paul Mitchell Jie Jin Wang Alex W Hewitt Michael Coote Jonathan G Crowston Sergei Y Astakhov Eugeny L Akopov Anton Emelyanov Vera Vysochinskaya Gyulli Kazakbaeva Rinat Fayzrakhmanov Saleh A Al-Obeidan Ohoud Owaidhah Leyla Ali Aljasim Balram Chowbay Jia Nee Foo Raphael Q Soh Kar Seng Sim Zhicheng Xie Augustine W O Cheong Shi Qi Mok Hui Meng Soo Xiao Yin Chen Su Qin Peh Khai Koon Heng Rahat Husain Su-Ling Ho Axel M Hillmer Ching-Yu Cheng Francisco A Escudero-Domínguez Rogelio González-Sarmiento Frederico Martinon-Torres Antonio Salas Kessara Pathanapitoon Linda Hansapinyo Boonsong Wanichwecharugruang Naris Kitnarong Anavaj Sakuntabhai Hip X Nguyn Giang T T Nguyn Trình V Nguyn Werner Zenz Alexander Binder Daniela S Klobassa Martin L Hibberd Sonia Davila Stefan Herms Markus M Nöthen Susanne Moebus Robyn M Rautenbach Ari Ziskind Trevor R Carmichael Michele Ramsay Lydia Álvarez Montserrat García Héctor González-Iglesias Pedro P Rodríguez-Calvo Luis Fernández-Vega Cueto Çilingir Oguz Nevbahar Tamcelik Eray Atalay Bilge Batu Dilek Aktas Burcu Kasım M Roy Wilson Anne L Coleman Yutao Liu Pratap Challa Leon Herndon Rachel W Kuchtey John Kuchtey Karen Curtin Craig J Chaya Alan Crandall Linda M Zangwill Tien Yin Wong Masakazu Nakano Shigeru Kinoshita Anneke I den Hollander Eija Vesti John H Fingert Richard K Lee Arthur J Sit Bradford J Shingleton Ningli Wang Daniele Cusi Raheel Qamar Peter Kraft Margaret A Pericak-Vance Soumya Raychaudhuri Steffen Heegaard Tero Kivelä André Reis Friedrich E Kruse Robert N Weinreb Louis R Pasquale Jonathan L Haines Unnur Thorsteinsdottir Fridbert Jonasson R Rand Allingham Dan Milea Robert Ritch Toshiaki Kubota Kei Tashiro Eranga N Vithana Shazia Micheal Fotis Topouzis Jamie E Craig Michael Dubina Periasamy Sundaresan Kari Stefansson Janey L Wiggs Francesca Pasutto Chiea Chuen Khor

Nat Genet 2017 07 29;49(7):993-1004. Epub 2017 May 29.

Singapore Eye Research Institute, Singapore.

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http://dx.doi.org/10.1038/ng.3875DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6685441PMC
July 2017

TNF-α Genetic Predisposition and Higher Expression of Inflammatory Pathway Components in Keratoconus.

Invest Ophthalmol Vis Sci 2017 07;58(9):3481-3487

Translational Genomics Laboratory, Department of Biosciences, COMSATS Institute of Information Technology, Islamabad, Pakistan.

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http://dx.doi.org/10.1167/iovs.16-21400DOI Listing
July 2017

Zika virus in Pakistan: the tip of the iceberg?

Lancet Glob Health 2016 12 1;4(12):e913-e914. Epub 2016 Nov 1.

Translational Genomics Laboratory, Department of Biosciences, COMSATS Institute of Information Technology, Islamabad, Pakistan.

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http://dx.doi.org/10.1016/S2214-109X(16)30246-7DOI Listing
December 2016

Evolution of codon usage in Zika virus genomes is host and vector specific.

Emerg Microbes Infect 2016 Oct 12;5(10):e107. Epub 2016 Oct 12.

State Key Laboratory of Pathogen and Biosecurity, Beijing Institute of Microbiology and Epidemiology, Beijing 100071, China.

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http://dx.doi.org/10.1038/emi.2016.106DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5117728PMC
October 2016

Identification of Mutations in the PRDM5 Gene in Brittle Cornea Syndrome.

Cornea 2016 Jun;35(6):853-9

Departments of *Ophthalmology; †Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands; ‡Al-Shifa Eye Trust Hospital, Rawalpindi, Pakistan; §Department of Biosciences, COMSATS Institute of Information Technology, Islamabad, Pakistan; ¶Al-Nafees Medical College and Hospital, Isra University, Islamabad, Pakistan; ‖Department of Ophthalmology, Antwerp University Hospital, University of Antwerp, Antwerp, Belgium; and **Center for Medical Genetics, Antwerp University Hospital, University of Antwerp, Antwerp, Belgium.

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http://dx.doi.org/10.1097/ICO.0000000000000824DOI Listing
June 2016

Genome-wide association study identifies five new susceptibility loci for primary angle closure glaucoma.

Authors:
Chiea Chuen Khor Tan Do Hongyan Jia Masakazu Nakano Ronnie George Khaled Abu-Amero Roopam Duvesh Li Jia Chen Zheng Li Monisha E Nongpiur Shamira A Perera Chunyan Qiao Hon-Tym Wong Hiroshi Sakai Mônica Barbosa de Melo Mei-Chin Lee Anita S Chan Yaakub Azhany Thi Lam Huong Dao Yoko Ikeda Rodolfo A Perez-Grossmann Tomasz Zarnowski Alexander C Day Jost B Jonas Pancy O S Tam Tuan Anh Tran Humaira Ayub Farah Akhtar Shazia Micheal Paul T K Chew Leyla A Aljasim Tanuj Dada Tam Thi Luu Mona S Awadalla Naris Kitnarong Boonsong Wanichwecharungruang Yee Yee Aung Jelinar Mohamed-Noor Saravanan Vijayan Sripriya Sarangapani Rahat Husain Aliza Jap Mani Baskaran David Goh Daniel H Su Huaizhou Wang Vernon K Yong Leonard W Yip Tuyet Bach Trinh Manchima Makornwattana Thanh Thu Nguyen Edgar U Leuenberger Ki-Ho Park Widya Artini Wiyogo Rajesh S Kumar Celso Tello Yasuo Kurimoto Suman S Thapa Kessara Pathanapitoon John F Salmon Yong Ho Sohn Antonio Fea Mineo Ozaki Jimmy S M Lai Visanee Tantisevi Chaw Chaw Khaing Takanori Mizoguchi Satoko Nakano Chan-Yun Kim Guangxian Tang Sujie Fan Renyi Wu Hailin Meng Thi Thuy Giang Nguyen Tien Dat Tran Morio Ueno Jose Maria Martinez Norlina Ramli Yin Mon Aung Rigo Daniel Reyes Stephen A Vernon Seng Kheong Fang Zhicheng Xie Xiao Yin Chen Jia Nee Foo Kar Seng Sim Tina T Wong Desmond T Quek Rengaraj Venkatesh Srinivasan Kavitha Subbiah R Krishnadas Nagaswamy Soumittra Balekudaru Shantha Boon-Ang Lim Jeanne Ogle José P C de Vasconcellos Vital P Costa Ricardo Y Abe Bruno B de Souza Chelvin C Sng Maria C Aquino Ewa Kosior-Jarecka Guillermo Barreto Fong Vania Castro Tamanaja Ricardo Fujita Yuzhen Jiang Naushin Waseem Sancy Low Huan Nguyen Pham Sami Al-Shahwan E Randy Craven Muhammad Imran Khan Rrima Dada Kuldeep Mohanty Muneeb A Faiq Alex W Hewitt Kathryn P Burdon Eng Hui Gan Anuwat Prutthipongsit Thipnapa Patthanathamrongkasem Mary Ann T Catacutan Irene R Felarca Chona S Liao Emma Rusmayani Vira Wardhana Istiantoro Giulia Consolandi Giulia Pignata Carlo Lavia Prin Rojanapongpun Lerprat Mangkornkanokpong Sunee Chansangpetch Jonathan C H Chan Bonnie N K Choy Jennifer W H Shum Hlaing May Than Khin Thida Oo Aye Thi Han Victor H Yong Xiao-Yu Ng Shuang Ru Goh Yaan Fun Chong Martin L Hibberd Mark Seielstad Eileen Png Sarah J Dunstan Nguyen Van Vinh Chau Jinxin Bei Yi Xin Zeng Abhilasha Karkey Buddha Basnyat Francesca Pasutto Daniela Paoli Paolo Frezzotti Jie Jin Wang Paul Mitchell John H Fingert R Rand Allingham Michael A Hauser Soon Thye Lim Soo Hong Chew Richard P Ebstein Anavaj Sakuntabhai Kyu Hyung Park Jeeyun Ahn Greet Boland Harm Snippe Richard Stead Raquel Quino Su Nyunt Zaw Urszula Lukasik Rohit Shetty Mimiwati Zahari Hyoung Won Bae Nay Lin Oo Toshiaki Kubota Anita Manassakorn Wing Lau Ho Laura Dallorto Young Hoon Hwang Christine A Kiire Masako Kuroda Zeiras Eka Djamal Jovell Ian M Peregrino Arkasubhra Ghosh Jin Wook Jeoung Tung S Hoan Nuttamon Srisamran Thayanithi Sandragasu Saw Htoo Set Vi Huyen Doan Shomi S Bhattacharya Ching-Lin Ho Donald T Tan Ramanjit Sihota Seng-Chee Loon Kazuhiko Mori Shigeru Kinoshita Anneke I den Hollander Raheel Qamar Ya-Xing Wang Yik Y Teo E-Shyong Tai Curt Hartleben-Matkin David Lozano-Giral Seang Mei Saw Ching-Yu Cheng Juan C Zenteno Chi Pui Pang Huong T T Bui Owen Hee Jamie E Craig Deepak P Edward Michiko Yonahara Jamil Miguel Neto Maria L Guevara-Fujita Liang Xu Robert Ritch Ahmad Tajudin Liza-Sharmini Tien Y Wong Saleh Al-Obeidan Nhu Hon Do Periasamy Sundaresan Clement C Tham Paul J Foster Lingam Vijaya Kei Tashiro Eranga N Vithana Ningli Wang Tin Aung

Nat Genet 2016 May 4;48(5):556-62. Epub 2016 Apr 4.

Singapore Eye Research Institute, Singapore National Eye Centre and Eye ACP, Duke-National University of Singapore, Singapore.

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http://www.nature.com/articles/ng.3540
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http://dx.doi.org/10.1038/ng.3540DOI Listing
May 2016

Clinical Utility of a Coronary Heart Disease Risk Prediction Gene Score in UK Healthy Middle Aged Men and in the Pakistani Population.

PLoS One 2015 2;10(7):e0130754. Epub 2015 Jul 2.

Centre for Cardiovascular Genetics, British Heart Foundation Laboratories, Institute of Cardiovascular Science, University College London, University Street, London, United Kingdom.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0130754PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4489836PMC
April 2016

Homozygosity mapping and targeted sanger sequencing reveal genetic defects underlying inherited retinal disease in families from pakistan.

PLoS One 2015 16;10(3):e0119806. Epub 2015 Mar 16.

Department of Biosciences, Commission on Science and Technology for Sustainable Development in the South Institute of Information Technology, Islamabad, Pakistan; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands; Radboud Institute for Molecular Life sciences, Radboud University Nijmegen, Nijmegen, the Netherlands.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0119806PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4361598PMC
January 2016

Association of a polymorphism in the BIRC6 gene with pseudoexfoliative glaucoma.

PLoS One 2014 13;9(8):e105023. Epub 2014 Aug 13.

Department of Ophthalmology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands; Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0105023PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4132048PMC
December 2015

A de novo microdeletion in NRXN1 in a Dutch patient with mild intellectual disability, microcephaly and gonadal dysgenesis.

Genet Res (Camb) 2015 Oct 6;97:e19. Epub 2015 Oct 6.

Department of Human Genetics,Radboud Institute for Molecular Life Sciences,Radboud University Medical Center,Nijmegen,the Netherlands.

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http://search.proquest.com/openview/8ede737de502b58a849f6a74
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http://www.journals.cambridge.org/abstract_S001667231500021X
Publisher Site
http://dx.doi.org/10.1017/S001667231500021XDOI Listing
October 2015

Identification of novel CYP1B1 gene mutations in patients with primary congenital and primary open-angle glaucoma.

Clin Exp Ophthalmol 2015 Jan-Feb;43(1):31-9. Epub 2014 Sep 23.

Department of Ophthalmology, Radboud University Medical Centre, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1111/ceo.12369DOI Listing
July 2015

Exome sequencing identifies three novel candidate genes implicated in intellectual disability.

PLoS One 2014 18;9(11):e112687. Epub 2014 Nov 18.

Department of Biosciences, Faculty of Science, COMSATS Institute of Information Technology, Islamabad, Pakistan; Department of Biochemistry, Al-Nafees Medical College & Hospital, Isra University, Islamabad, Pakistan.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0112687PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4236113PMC
July 2015

Association of known common genetic variants with primary open angle, primary angle closure, and pseudoexfoliation glaucoma in Pakistani cohorts.

Mol Vis 2014 4;20:1471-9. Epub 2014 Nov 4.

Department of Ophthalmology, Radboud University Medical Centre, Nijmegen, the Netherlands ; Department of Human Genetics, Radboud University Medical Centre, Nijmegen, the Netherlands.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4225136PMC
June 2015

A single SNP surrogate for genotyping HLA-C*06:02 in diverse populations.

J Invest Dermatol 2015 Apr 10;135(4):1177-1180. Epub 2014 Dec 10.

Department of Dermatology, University of Michigan, Ann Arbor, Michigan, USA. Electronic address:

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http://dx.doi.org/10.1038/jid.2014.517DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4366324PMC
April 2015

A canonical splice site mutation in GIPC3 causes sensorineural hearing loss in a large Pakistani family.

J Hum Genet 2014 Dec 9;59(12):683-6. Epub 2014 Oct 9.

1] Department of Otorhinolaryngology, Head and Neck Surgery, Radboud University Medical Center, Nijmegen, The Netherlands [2] Radboud Institute for Molecular Life Sciences, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1038/jhg.2014.86DOI Listing
December 2014

A missense mutation in the splicing factor gene DHX38 is associated with early-onset retinitis pigmentosa with macular coloboma.

J Med Genet 2014 Jul 15;51(7):444-8. Epub 2014 Apr 15.

Faculty of Science, Department of Biosciences, COMSATS Institute of Information Technology, Islamabad, Pakistan Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands Radboud Institute for Molecular Life Sciences, Radboud University Nijmegen, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1136/jmedgenet-2014-102316DOI Listing
July 2014

A complex microcephaly syndrome in a Pakistani family associated with a novel missense mutation in RBBP8 and a heterozygous deletion in NRXN1.

Gene 2014 Mar 16;538(1):30-5. Epub 2014 Jan 16.

Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Radboud university medical center, Nijmegen, The Netherlands; Department of Cognitive Neuroscience, Donders Institute for Brain, Cognition and Behavior, Nijmegen, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.gene.2014.01.027DOI Listing
March 2014

The molecular basis of retinal dystrophies in pakistan.

Genes (Basel) 2014 Mar 11;5(1):176-95. Epub 2014 Mar 11.

Department of Biosciences, Faculty of Science, COMSATS Institute of Information Technology, Islamabad 45600, Pakistan.

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http://dx.doi.org/10.3390/genes5010176DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3978518PMC
March 2014

Novel mutation in AAA domain of BCS1L causing Bjornstad syndrome.

J Hum Genet 2013 Dec 31;58(12):819-21. Epub 2013 Oct 31.

1] Department of Otorhinolaryngology, Head and Neck Surgery, Nijmegen, The Netherlands [2] Nijmegen Centre for Molecular Life Sciences, Nijmegen, The Netherlands [3] Donders Institute for Brain, Cognition and Behaviour, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1038/jhg.2013.101DOI Listing
December 2013

The genetic spectrum of familial hypercholesterolemia in Pakistan.

Clin Chim Acta 2013 Jun 25;421:219-25. Epub 2013 Mar 25.

COMSATS Institute of Information Technology, Islamabad, Pakistan.

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http://dx.doi.org/10.1016/j.cca.2013.03.017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3701840PMC
June 2013

A novel homozygous 10 nucleotide deletion in BBS10 causes Bardet-Biedl syndrome in a Pakistani family.

Gene 2013 Apr 9;519(1):177-81. Epub 2013 Feb 9.

Department of Biosciences, Faculty of Science, COMSATS Institute of Information Technology, Islamabad, Pakistan.

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http://dx.doi.org/10.1016/j.gene.2013.01.047DOI Listing
April 2013

Role of Lysyl oxidase-like 1 gene polymorphisms in Pakistani patients with pseudoexfoliative glaucoma.

Mol Vis 2012 25;18:1040-4. Epub 2012 Apr 25.

Department of Biosciences, Faculty of Science, COMSATS Institute of Information Technology, Islamabad, Pakistan.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3351428PMC
December 2012

A nonsense mutation in S-antigen (p.Glu306*) causes Oguchi disease.

Mol Vis 2012 12;18:1253-9. Epub 2012 May 12.

Shifa College of Medicine, Islamabad, Pakistan.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3365131PMC
December 2012

Identification of a novel FBN1 gene mutation in a large Pakistani family with Marfan syndrome.

Mol Vis 2012 18;18:1918-26. Epub 2012 Jul 18.

Department of Biosciences, COMSATS Institute of Information Technology, Islamabad, Pakistan.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3413445PMC
December 2012

Novel and recurrent LDLR gene mutations in Pakistani hypercholesterolemia patients.

Mol Biol Rep 2012 Jul 7;39(7):7365-72. Epub 2012 Feb 7.

Department of Biosciences, Faculty of Science, COMSATS Institute of Information Technology, Park Road, Islamabad 45600, Pakistan.

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http://dx.doi.org/10.1007/s11033-012-1568-1DOI Listing
July 2012

CLRN1 mutations cause nonsyndromic retinitis pigmentosa.

Ophthalmology 2011 Jul 18;118(7):1444-8. Epub 2011 Feb 18.

Department of Biosciences, COMSATS Institute of Information Technology, Islamabad, Pakistan.

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http://dx.doi.org/10.1016/j.ophtha.2010.10.047DOI Listing
July 2011

The development of computational biology in Pakistan: still a long way to go.

PLoS Comput Biol 2011 Jun 30;7(6):e1001135. Epub 2011 Jun 30.

Bioinformatics Laboratory, National Centre of Excellence in Molecular Biology, University of Punjab, Lahore, Pakistan.

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http://dx.doi.org/10.1371/journal.pcbi.1001135DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3131149PMC
June 2011

Role of tissue plasminogen activator and plasminogen activator inhibitor polymorphism in myocardial infarction.

Mol Biol Rep 2011 Apr 17;38(4):2541-8. Epub 2010 Nov 17.

Department of Biosciences, COMSATS Institute of Information Technology, Park Road, Islamabad, 45600, Pakistan.

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http://dx.doi.org/10.1007/s11033-010-0392-8DOI Listing
April 2011

Characterization of Y-chromosomal short tandem repeat markers in Pakistani populations.

Genet Test Mol Biomarkers 2011 Mar 3;15(3):165-72. Epub 2011 Jan 3.

Institute of Biomedical and Genetic Engineering, Islamabad, Pakistan.

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http://dx.doi.org/10.1089/gtmb.2010.0147DOI Listing
March 2011

Identification of a recurrent insertion mutation in the LDLR gene in a Pakistani family with autosomal dominant hypercholesterolemia.

Mol Biol Rep 2010 Dec 10;37(8):3869-75. Epub 2010 Mar 10.

Department of Biosciences, COMSATS Institute of Information Technology, Park Road, Chak Shahzad, Islamabad, 45600, Pakistan.

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http://link.springer.com/10.1007/s11033-010-0043-0
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http://dx.doi.org/10.1007/s11033-010-0043-0DOI Listing
December 2010

POLYAR, a new computer program for prediction of poly(A) sites in human sequences.

BMC Genomics 2010 Nov 19;11:646. Epub 2010 Nov 19.

Department of Biosciences, COMSATS Institute of Information Technology, Islamabad, Pakistan.

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http://dx.doi.org/10.1186/1471-2164-11-646DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3053588PMC
November 2010

Patient HLA-DRB1* and -DQB1* allele and haplotype association with hepatitis C virus persistence and clearance.

J Gen Virol 2010 Aug 14;91(Pt 8):1931-8. Epub 2010 Apr 14.

Institute of Biomedical and Genetic Engineering, PO Box No. 2891, Islamabad 44000, Pakistan.

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http://dx.doi.org/10.1099/vir.0.018119-0DOI Listing
August 2010

Association of tumor necrosis factor alpha gene polymorphism G-308A with pseudoexfoliative glaucoma in the Pakistani population.

Mol Vis 2009 Dec 22;15:2861-7. Epub 2009 Dec 22.

Department of Biosciences, COMSATS Institute of Information Technology, Islamabad, Pakistan.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2796874PMC
December 2009

MTHFR gene C677T and A1298C polymorphisms and homocysteine levels in primary open angle and primary closed angle glaucoma.

Mol Vis 2009 Nov 9;15:2268-78. Epub 2009 Nov 9.

Department of Biosciences, COMSATS Institute of Information Technology, Islamabad-44000, Pakistan.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2776344PMC
November 2009

Association of ABO blood groups with glaucoma in the Pakistani population.

Can J Ophthalmol 2009 Oct;44(5):582-6

Department of Biosciences, COMSATS Institute of Information Technology, Islamabad, Pakistan.

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http://linkinghub.elsevier.com/retrieve/pii/S000841820980125
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http://dx.doi.org/10.3129/i09-104DOI Listing
October 2009

VNTR polymorphism of the DRD4 locus in different Pakistani ethnic groups.

Genet Test 2008 Jun;12(2):299-304

Institute of Biomedical and Genetic Engineering, Dr. A.Q. Khan Research Laboratories, Islamabad, Pakistan.

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http://dx.doi.org/10.1089/gte.2007.0120DOI Listing
June 2008

C677T polymorphism in the methylenetetrahydrofolate reductase gene is associated with primary closed angle glaucoma.

Mol Vis 2008 Mar 26;14:661-5. Epub 2008 Mar 26.

Department of Biosciences, Comsats Institute of Information Technology, Islamabad, Pakistan.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2277437PMC
March 2008

Y-chromosomal DNA variation in Pakistan.

Am J Hum Genet 2002 May 15;70(5):1107-24. Epub 2002 Mar 15.

Biomedical and Genetic Engineering Division, Dr. A. Q. Khan Research Laboratories, Islamabad, Pakistan.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC447589PMC
May 2002