| A critical review on halophytes: salt tolerant plants R Aslam¹, N Bostan, MM Nabgha-e-Amen¹, W Safdar Journal of Medicinal Plants Research 5 (33), 7108-7118, 2011 | 244 | 2011 |
| 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 | 43 | 2013 |
| 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 |
| 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 | 32 | 2015 |
| Cardiomyopathy associated with the Ala143Thr variant of the α-galactosidase A gene K Valtola, J Nino-Quintero, M Hedman, L Lottonen-Raikaslehto, T Laitinen, ... Heart 106 (8), 609-615, 2020 | 26 | 2020 |
| 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 | 25 | 2012 |
| Clinical and genetic characterization of 153 patients with persistent or transient congenital hyperinsulinism JME Männistö, M Maria, J Raivo, T Kuulasmaa, T Otonkoski, H Huopio, ... The Journal of Clinical Endocrinology & Metabolism 105 (4), e1686-e1694, 2020 | 19 | 2020 |
| Low seroprevalence of torque teno virus in HCV positive patients and phylogenetic analysis from Pakistani isolates. N Amen, M Maria, M Azam, A Aziz, R Qamar, N Bostan | 10 | 2018 |
| Dissecting the polygenic basis of atherosclerosis via disease-associated cell state signatures T Örd, T Lönnberg, V Nurminen, A Ravindran, H Niskanen, M Kiema, ... The American Journal of Human Genetics 110 (5), 722-740, 2023 | 8 | 2023 |
| The power of single-cell RNA sequencing in eQTL discovery M Maria, N Pouyanfar, T Örd, MU Kaikkonen Genes 13 (3), 502, 2022 | 7 | 2022 |
| Type III Multicopper Proteins: A Critical Review M Maria, N Bostan, R Aslam, B Mustafa, W Safdar IJBT 4, 575-581, 2011 | 4 | 2011 |
| Phylogenetics of HCV: Recent advances N Bostan, MM Mustafa, W Safdar, Q Javed, T Mahmood African Journal of Biotechnology 9 (36), 2010 | 2 | 2010 |
| Late-onset and classic phenotypes of Fabry disease in males with the GLA-Thr410Ala mutation K Valtola, M Hedman, I Kantola, S Walls, S Helisalmi, M Maria, J Raivo, ... Open Heart 10 (1), e002251, 2023 | 1 | 2023 |
| Role of 19 SNPs in 10 genes with type 2 diabetes in the Pakistani population N Khan, AD Paterson, D Roshandel, S Maqbool, N Fazal, L Ali, ... Gene 848, 146899, 2023 | 1 | 2023 |
| Metabolite Signature in the Carriers of Pathogenic Genetic Variants for Cardiomyopathy: A Population-Based METSIM Study R Ravi, L Fernandes Silva, J Vangipurapu, M Maria, J Raivo, S Helisalmi, ... Metabolites 12 (5), 437, 2022 | 1 | 2022 |
| Analysis of VSX1, HGF and LOX in the Pakistani familial and sporadic Keratoconus patients PM Siddique, RK Malik, AA Chohan, WA Khan, S Siddiqui, AMK Minhas, ... 2016 New York Scientific Data Summit (NYSDS), 1-1, 2016 | 1 | 2016 |
| Prevalence, genotype and phenotype of familial hypercholesterolemia in 10,194 Finnish men L Korhonen, M Maria, J Vangipurapu, M Laakso, J Kuusisto European Heart Journal 42 (Supplement_1), ehab724. 2566, 2021 | | 2021 |
| Family with the rare GLA-Thr410Ala mutation K Valtola, I Kantola, M Hedman, M Maria, M Laakso, J Kuusisto Molecular Genetics and Metabolism 129 (2), S155, 2020 | | 2020 |
| Identification of the causal variants for different inherited retinal phenotypes in a complex consanguineous family from Pakistan M Maria, M Azam, SHB Ali, F Cremers, R Qamar, MI Khan, ... Investigative Ophthalmology & Visual Science 56 (7), 2859-2859, 2015 | | 2015 |
| EXPLORING THE EXOCYST AND ITS ASSOCIATION WITH THE CILIUM AND RETINAL-RENAL CILIOPATHIES IJC Lamers, J Van Reeuwijk, M Azam, K Boldt, M Maria, ... NEPHROLOGY DIALYSIS TRANSPLANTATION 29, 73-73, 2014 | | 2014 |
