Role of nitric oxide in the cardiovascular and renal systems A Ahmad, SK Dempsey, Z Daneva, M Azam, N Li, PL Li, JK Ritter International journal of molecular sciences 19 (9), 2605, 2018 | 249 | 2018 |
High-resolution homozygosity mapping is a powerful tool to detect novel mutations causative of autosomal recessive RP in the Dutch population RWJ Collin, LI van den Born, BJ Klevering, M de Castro-Miró, KW Littink, ... Investigative Ophthalmology & Visual Science 52 (5), 2227-2239, 2011 | 85 | 2011 |
CLRN1 mutations cause nonsyndromic retinitis pigmentosa MI Khan, FFJ Kersten, M Azam, RWJ Collin, A Hussain, STA Shah, ... Ophthalmology 118 (7), 1444-1448, 2011 | 70 | 2011 |
Genetic spectrum of autosomal recessive non-syndromic hearing loss in Pakistani families S Shafique, S Siddiqi, M Schraders, J Oostrik, H Ayub, A Bilal, M Ajmal, ... PloS one 9 (6), e100146, 2014 | 67 | 2014 |
A missense mutation in the splicing factor gene DHX38 is associated with early-onset retinitis pigmentosa with macular coloboma M Ajmal, MI Khan, K Neveling, YM Khan, M Azam, NK Waheed, ... Journal of medical genetics 51 (7), 444-448, 2014 | 64 | 2014 |
Exome sequencing identifies a novel and a recurrent BBS1 mutation in Pakistani families with Bardet-Biedl syndrome M Ajmal, MI Khan, K Neveling, A Tayyab, S Jaffar, A Sadeque, H Ayub, ... Molecular vision 19, 644, 2013 | 51 | 2013 |
Association of ANRIL polymorphism (rs1333049: C> G) with myocardial infarction and its pharmacogenomic role in hypercholesterolemia W Ahmed, IS Ali, M Riaz, A Younas, A Sadeque, AK Niazi, SH Niazi, ... Gene 515 (2), 416-420, 2013 | 50 | 2013 |
Screening of a Large Cohort of Leber Congenital Amaurosis and Retinitis Pigmentosa Patients Identifies Novel LCA5 Mutations and New Genotype–Phenotype … DS Mackay, AD Borman, R Sui, LI van den Born, EL Berson, LA Ocaka, ... Human mutation 34 (11), 1537-1546, 2013 | 44 | 2013 |
Taurine treatment of retinal degeneration and cardiomyopathy in a consanguineous family with SLC6A6 taurine transporter deficiency M Ansar, E Ranza, M Shetty, SA Paracha, M Azam, I Kern, J Iwaszkiewicz, ... Human molecular genetics 29 (4), 618-623, 2020 | 38 | 2020 |
Homozygosity mapping and targeted sanger sequencing reveal genetic defects underlying inherited retinal disease in families from pakistan M Maria, M Ajmal, M Azam, NK Waheed, SN Siddiqui, B Mustafa, H Ayub, ... PLoS One 10 (3), e0119806, 2015 | 34 | 2015 |
TNF-α genetic predisposition and higher expression of inflammatory pathway components in keratoconus M Arbab, S Tahir, MK Niazi, M Ishaq, A Hussain, PM Siddique, S Saeed, ... Investigative Ophthalmology & Visual Science 58 (9), 3481-3487, 2017 | 32 | 2017 |
Genetic and clinical characterization of Pakistani families with Bardet-Biedl syndrome extends the genetic and phenotypic spectrum M Maria, IJC Lamers, M Schmidts, M Ajmal, S Jaffar, E Ullah, B Mustafa, ... Scientific Reports 6 (1), 34764, 2016 | 32 | 2016 |
Novel and recurrent CIB2 variants, associated with nonsyndromic deafness, do not affect calcium buffering and localization in hair cells CZ Seco, AP Giese, S Shafique, M Schraders, AMM Oonk, M Grossheim, ... European Journal of Human Genetics 24 (4), 542-549, 2016 | 32 | 2016 |
Association of Pro12Ala polymorphism in peroxisome proliferator activated receptor gamma with proliferative diabetic retinopathy K Tariq, SB Malik, SHB Ali, SE Maqsood, A Azam, I Muslim, MS Khan, ... Molecular vision 19, 710, 2013 | 32 | 2013 |
Role of ACE and PAI-1 Polymorphisms in the Development and Progression of Diabetic Retinopathy S Saleem, A Azam, SI Maqsood, I Muslim, S Bashir, N Fazal, M Riaz, ... PloS one 10 (12), e0144557, 2015 | 30 | 2015 |
Exome sequencing identifies three novel candidate genes implicated in intellectual disability Z Agha, Z Iqbal, M Azam, H Ayub, LELM Vissers, C Gilissen, SHB Ali, ... PloS one 9 (11), e112687, 2014 | 30 | 2014 |
Role of tissue plasminogen activator and plasminogen activator inhibitor polymorphism in myocardial infarction W Ahmed, M Malik, I Saeed, AA Khan, A Sadeque, U Kaleem, N Ahmed, ... Molecular biology reports 38, 2541-2548, 2011 | 30 | 2011 |
Novel CNGA3 and CNGB3 mutations in two Pakistani families with achromatopsia M Azam, RWJ Collin, STA Shah, AA Shah, MI Khan, A Hussain, ... Molecular Vision 16, 774, 2010 | 29 | 2010 |
A novel mutation in GRK1 causes Oguchi disease in a consanguineous Pakistani family M Azam, RWJ Collin, MI Khan, STA Shah, N Qureshi, M Ajmal, ... Molecular vision 15, 1788, 2009 | 29 | 2009 |
Missense mutations at homologous positions in the fourth and fifth laminin A G-like domains of eyes shut homolog cause autosomal recessive retinitis pigmentosa MI Khan, RWJ Collin, K Arimadyo, S Micheal, M Azam, N Qureshi, ... Molecular Vision 16, 2753, 2010 | 27 | 2010 |