| 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 | 72 | 2011 |
| 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 | 66 | 2018 |
| 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 | 53 | 2014 |
| CLRN1 mutations cause nonsyndromic retinitis pigmentosa MI Khan, FFJ Kersten, M Azam, RWJ Collin, A Hussain, STA Shah, ... Ophthalmology 118 (7), 1444-1448, 2011 | 52 | 2011 |
| 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 | 39 | 2013 |
| 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 | 38 | 2014 |
| 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 | 32 | 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 | 30 | 2013 |
| 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 (4), 2541-2548, 2011 | 28 | 2011 |
| 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 | 26 | 2009 |
| 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 | 25 | 2013 |
| 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 | 25 | 2010 |
| 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 | 24 | 2010 |
| A nonsense mutation in S-antigen (p. Glu306*) causes Oguchi disease NK Waheed, AH Qavi, SN Malik, M Maria, M Riaz, FPM Cremers, M Azam, ... Molecular vision 18, 1253, 2012 | 21 | 2012 |
| Identification of novel mutations in Pakistani families with autosomal recessive retinitis pigmentosa M Azam, RWJ Collin, A Malik, MI Khan, STA Shah, AA Shah, A Hussain, ... Archives of Ophthalmology 129 (10), 1377-1378, 2011 | 21 | 2011 |
| 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 | 20 | 2016 |
| 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 | 20 | 2014 |
| A homozygous p. Glu150Lys mutation in the opsin gene of two Pakistani families with autosomal recessive retinitis pigmentosa M Azam, MI Khan, A Gal, A Hussain, STA Shah, MS Khan, A Sadeque, ... Molecular vision 15, 2526, 2009 | 20 | 2009 |
| 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 | 19 | 2015 |
| 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 | 19 | 2015 |
