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ArticlesPeer ReviewedFull Text
Evolution of codon usage in Zika virus genomes is host and vector specific
Author / Creator:Butt, Azeem Mehmood ; Nasrullah, Izza ; Qamar, Raheel ; Tong, Yigang
Publisher:United States: Taylor & Francis Ltd
Journal title:Emerging microbes & infections, 2016-10, Vol.5 (1), p.1-14
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Implementation of public health genomics in Pakistan
Author / Creator:Riaz, Moeen ; Tiller, Jane ; Ajmal, Muhammad ; Azam, Maleeha ; Qamar, Raheel ; Lacaze, Paul
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2019-10, Vol.27 (10), p.1485-1492
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Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: identification of a novel genotype-phenotype correlation and clinical refinements
Author / Creator:Wang, Feng ; Wang, Hui ; Tuan, Han-Fang ; Nguyen, Duy H. ; Sun, Vincent ; Keser, Vafa ; Bowne, Sara J. ; Sullivan, Lori S. ; Luo, Hongrong ; Zhao, Ling ; Wang, Xia ; Zaneveld, Jacques E. ; Salvo, Jason S. ; Siddiqui, Sorath ; Mao, Louise ; Wheaton, Dianna K. ; Birch, David G. ; Branham, Kari E. ; Heckenlively, John R. ; Wen, Cindy ; Flagg, Ken ; Ferreyra, Henry ; Pei, Jacqueline ; Khan, Ayesha ; Ren, Huanan ; Wang, Keqing ; Lopez, Irma ; Qamar, Raheel ; Zenteno, Juan C. ; Ayala-Ramirez, Raul ; Buentello-Volante, Beatriz ; Fu, Qing ; Simpson, David A. ; Li, Yumei ; Sui, Ruifang ; Silvestri, Giuliana ; Daiger, Stephen P. ; Koenekoop, Robert K. ; Zhang, Kang ; Chen, Rui
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Human genetics, 2014-03, Vol.133 (3), p.331-345
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Genetic Spectrum of Autosomal Recessive Non-Syndromic Hearing Loss in Pakistani Families
Author / Creator:Shafique, Sobia ; Siddiqi, Saima ; Schraders, Margit ; Oostrik, Jaap ; Ayub, Humaira ; Bilal, Ammad ; Ajmal, Muhammad ; Seco, Celia Zazo ; Strom, Tim M. ; Mansoor, Atika ; Mazhar, Kehkashan ; Shah, Syed Tahir A. ; Hussain, Alamdar ; Azam, Maleeha ; Kremer, Hannie ; Qamar, Raheel
Publisher:United States: Public Library of Science
Journal title:PloS one, 2014-06, Vol.9 (6), p.e100146
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Association of Monoamine Oxidase A Gene Promoter Region (30 bp μVNTR) Polymorphism with Serum Levels in Multiple Psychiatric Disorders
Author / Creator:Hashmi, Aisha Nasir ; Taj, Rizwan ; Agha, Zehra ; Qamar, Raheel ; Williams, Jamal B. ; Azam, Maleeha
Publisher:Switzerland: MDPI AG
Journal title:Biomedicines, 2025-03, Vol.13 (3), p.698
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Genetic Association of Butyrylcholinesterase with Major Depressive Disorder
Author / Creator:Awan, Sliha ; Hashmi, Aisha N. ; Taj, Rizwan ; Munir, Sadaf ; Habib, Rabia ; Batool, Sajida ; Azam, Maleeha ; Qamar, Raheel ; Nurulain, Syed M.
Publisher:New York: Springer US
Journal title:Biochemical genetics, 2022-04, Vol.60 (2), p.720-737
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Biallelic variants in CHST3 cause Spondyloepiphyseal dysplasia with joint dislocations in three Pakistani kindreds
Author / Creator:Kausar, Mehran ; Ain, Noor Ul ; Hayat, Farzana ; Fatima, Hunain ; Azim, Saad ; Ullah, Hazrat ; Mushtaq, Murva ; Khalid, Sumbal ; Hussain, Shahid ; Naz, Sadaf ; Janjua, Jamal ; Amjad, Saad Bin ; Baig, Ruqia Mehmood ; Makitie, Outi ; Qamar, Raheel ; Ikegawa, Shiro ; Gen, Nishimura ; Khor, Chiea Chuen ; Foo, Jia Nee ; Siddiqi, Saima
Publisher:England: BioMed Central Ltd
Journal title:BMC musculoskeletal disorders, 2022-08, Vol.23 (1), p.818-818, Article 818
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Clinical Utility of a Coronary Heart Disease Risk Prediction Gene Score in UK Healthy Middle Aged Men and in the Pakistani Population
Author / Creator:Beaney, Katherine E. ; Cooper, Jackie A. ; Ullah Shahid, Saleem ; Ahmed, Waqas ; Qamar, Raheel ; Drenos, Fotios ; Crockard, Martin A. ; Humphries, Steve E.
Publisher:United States: Public Library of Science
Journal title:PloS one, 2015-07, Vol.10 (7), p.e0130754
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POLYAR, a new computer program for prediction of poly(A) sites in human sequences
Author / Creator:Akhtar, Malik Nadeem ; Bukhari, Syed Abbas ; Fazal, Zeeshan ; Qamar, Raheel ; Shahmuradov, Ilham A
Publisher:England: BioMed Central Ltd
Journal title:BMC genomics, 2010-11, Vol.11 (1), p.646-646, Article 646
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Role of ACE and PAI-1 Polymorphisms in the Development and Progression of Diabetic Retinopathy
Author / Creator:Saleem, Saba ; Azam, Aisha ; Maqsood, Sundus Ijaz ; Muslim, Irfan ; Bashir, Shaheena ; Fazal, Nosheen ; Riaz, Moeen ; Ali, Syeda Hafiza Benish ; Niazi, Muhammad Khizar ; Ishaq, Mazhar ; Waheed, Nadia Khalida ; Qamar, Raheel ; Azam, Maleeha
Publisher:United States: Public Library of Science
Journal title:PloS one, 2015-12, Vol.10 (12), p.e0144557
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Rare Variants Residing in Novel Cis-Acting Element in Visual System Homeobox 1 and Their Contribution in the Pathogenesis of Keratoconus
Author / Creator:Alswailmi, Farhan Khashim ; Malik, Rida Khursheed ; Parrey, Mujeeb Ur Rehman ; Siddiqi, Abdul Rauf ; Karimulla, Shaik ; Alanezi, Abdulkareem A. ; Qamar, Raheel ; Azam, Maleeha ; Ahmad, Ashfaq
Publisher:Basel: MDPI AG
Journal title:Applied sciences, 2023-04, Vol.13 (8), p.4888
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Exome Sequencing Identifies Three Novel Candidate Genes Implicated in Intellectual Disability
Author / Creator:Agha, Zehra ; Iqbal, Zafar ; Azam, Maleeha ; Ayub, Humaira ; Vissers, Lisenka E. L. M. ; Gilissen, Christian ; Ali, Syeda Hafiza Benish ; Riaz, Moeen ; Veltman, Joris A. ; Pfundt, Rolph ; van Bokhoven, Hans ; Qamar, Raheel
Publisher:United States: Public Library of Science
Journal title:PloS one, 2014-11, Vol.9 (11), p.e112687-e112687
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Variants in the ASB10 Gene Are Associated with Primary Open Angle Glaucoma
Author / Creator:Micheal, Shazia ; Ayub, Humaira ; Islam, Farrah ; Siddiqui, Sorath Noorani ; Khan, Wajid Ali ; Akhtar, Farah ; Qamar, Raheel ; Khan, Muhammad Imran ; Hollander, Anneke I. den
Publisher:United States: Public Library of Science
Journal title:PloS one, 2015-12, Vol.10 (12), p.e0145005-e0145005
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Homozygosity Mapping and Targeted Sanger Sequencing Reveal Genetic Defects Underlying Inherited Retinal Disease in Families from Pakistan
Author / Creator:Maria, Maleeha ; Ajmal, Muhammad ; Azam, Maleeha ; Waheed, Nadia Khalida ; Siddiqui, Sorath Noorani ; Mustafa, Bilal ; Ayub, Humaira ; Ali, Liaqat ; Ahmad, Shakeel ; Micheal, Shazia ; Hussain, Alamdar ; Shah, Syed Tahir Abbas ; Ali, Syeda Hafiza Benish ; Ahmed, Waqas ; Khan, Yar Muhammad ; den Hollander, Anneke I. ; Haer-Wigman, Lonneke ; Collin, Rob W. J. ; Khan, Muhammad Imran ; Qamar, Raheel ; Cremers, Frans P. M.
Publisher:United States: Public Library of Science
Journal title:PloS one, 2015-03, Vol.10 (3), p.e0119806-e0119806
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Landslide dam and subsequent dam-break flood estimation using HEC-RAS model in Northern Pakistan
Author / Creator:Butt, Mohsin Jamil ; Umar, Muhammad ; Qamar, Raheel
Publisher:Heidelberg: Springer
Journal title:Natural hazards (Dordrecht), 2013-01, Vol.65 (1), p.241-254
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Novel mutation in AAA domain of BCS1L causing Bjornstad syndrome
Author / Creator:Siddiqi, Saima ; Siddiq, Saadat ; Mansoor, Atika ; Oostrik, Jaap ; Ahmad, Nafees ; Kazmi, Syed Ali Raza ; Kremer, Hannie ; Qamar, Raheel ; Schraders, Margit
Publisher:England: Nature Publishing Group
Journal title:Journal of human genetics, 2013-12, Vol.58 (12), p.819-821
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A canonical splice site mutation in GIPC3 causes sensorineural hearing loss in a large Pakistani family
Author / Creator:Siddiqi, Saima ; Ismail, Muhammad ; Oostrik, Jaap ; Munawar, Saba ; Mansoor, Atika ; Kremer, Hannie ; Qamar, Raheel ; Schraders, Margit
Publisher:England: Nature Publishing Group
Journal title:Journal of human genetics, 2014-12, Vol.59 (12), p.683-686
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Association of a Polymorphism in the BIRC6 Gene with Pseudoexfoliative Glaucoma
Author / Creator:Ayub, Humaira ; Micheal, Shazia ; Akhtar, Farah ; Khan, Muhammad Imran ; Bashir, Shaheena ; Waheed, Nadia K. ; Ali, Mahmood ; Schoenmaker-Koller, Frederieke E. ; Shafique, Sobia ; Qamar, Raheel ; Hollander, Anneke I. den
Publisher:United States: Public Library of Science
Journal title:PloS one, 2014-08, Vol.9 (8), p.e105023-e105023
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Correction: Clinical Utility of a Coronary Heart Disease Risk Prediction Gene Score in UK Healthy Middle Aged Men and in the Pakistani Population
Author / Creator:Beaney, Katherine E. ; Cooper, Jackie A. ; Ullah Shahid, Saleem ; Ahmed, Waqas ; Qamar, Raheel ; Drenos, Fotios ; Crockard, Martin A. ; Humphries, Steve E.
Publisher:United States: Public Library of Science
Journal title:PloS one, 2015-09, Vol.10 (9), p.e0139651-e0139651
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A homozygous FITM2 mutation causes a deafness-dystonia syndrome with motor regression and signs of ichthyosis and sensory neuropathy
Author / Creator:Seco, Celia Zazo ; Castells-Nobau, Anna ; Joo, Seol-hee ; Schraders, Margit ; Foo, Jia Nee ; van der Voet, Monique ; Velan, S. Sendhil ; Nijhof, Bonnie ; Oostrik, Jaap ; de Vrieze, Erik ; Katana, Radoslaw ; Mansoor, Atika ; Huynen, Martijn ; Szklarczyk, Radek ; Oti, Martin ; Tranebjærg, Lisbeth ; van Wijk, Erwin ; Scheffer-de Gooyert, Jolanda M. ; Siddique, Saadat ; Baets, Jonathan ; de Jonghe, Peter ; Kazmi, Syed Ali Raza ; Sadananthan, Suresh Anand ; van de Warrenburg, Bart P. ; Khor, Chiea Chuen ; Göpfert, Martin C. ; Qamar, Raheel ; Schenck, Annette ; Kremer, Hannie ; Siddiqi, Saima
Publisher:England: The Company of Biologists Ltd
Journal title:Disease models & mechanisms, 2017-02, Vol.10 (2), p.105-118
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Showing 1 to 20 of 57 results

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

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Implementation of public health genomics in Pakistan

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Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: identification of a novel genotype-phenotype correlation and clinical refinements

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Genetic Spectrum of Autosomal Recessive Non-Syndromic Hearing Loss in Pakistani Families

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Association of Monoamine Oxidase A Gene Promoter Region (30 bp μVNTR) Polymorphism with Serum Levels in Multiple Psychiatric Disorders

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Genetic Association of Butyrylcholinesterase with Major Depressive Disorder

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Biallelic variants in CHST3 cause Spondyloepiphyseal dysplasia with joint dislocations in three Pakistani kindreds

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

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

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Role of ACE and PAI-1 Polymorphisms in the Development and Progression of Diabetic Retinopathy

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Rare Variants Residing in Novel Cis-Acting Element in Visual System Homeobox 1 and Their Contribution in the Pathogenesis of Keratoconus

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Exome Sequencing Identifies Three Novel Candidate Genes Implicated in Intellectual Disability

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Variants in the ASB10 Gene Are Associated with Primary Open Angle Glaucoma

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Homozygosity Mapping and Targeted Sanger Sequencing Reveal Genetic Defects Underlying Inherited Retinal Disease in Families from Pakistan

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Landslide dam and subsequent dam-break flood estimation using HEC-RAS model in Northern Pakistan

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Novel mutation in AAA domain of BCS1L causing Bjornstad syndrome

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

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Association of a Polymorphism in the BIRC6 Gene with Pseudoexfoliative Glaucoma

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

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A homozygous FITM2 mutation causes a deafness-dystonia syndrome with motor regression and signs of ichthyosis and sensory neuropathy

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