Maleeha Maria

University of Eastern Finland — Finland

Medicine · Health Sciences

8h-index275citations21works1.02yr avg
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Research Topics

Retinal Diseases and Treatments(5), Retinal Development and Disorders(4), Genetic Associations and Epidemiology(3), Trypanosoma species research and implications(3), Lysosomal Storage Disorders Research(3)

Publications21 total

Alzheimer and cardiovascular genetic scores and cognition: the FINGER randomized controlled trial
Brain·2025· 1 citedOpen Access
Dissecting the polygenic basis of atherosclerosis via disease-associated cell state signatures
The American Journal of Human Genetics·2023· 43 citedOpen Access
Late-onset and classic phenotypes of Fabry disease in males with the <i>GLA</i>-Thr410Ala mutation
Open Heart·2023· 8 citedOpen Access
Partial stratified ranked set sampling scheme for estimation of population mean and median
PLoS ONE·2023· 5 citedOpen Access
Role of 19 SNPs in 10 genes with type 2 diabetes in the Pakistani population
Gene·2022· 3 cited
Dissecting the polygenic basis of atherosclerosis using disease associated cell state signatures
Research Square (Research Square)·2022Open Access
Metabolite Signature in the Carriers of Pathogenic Genetic Variants for Cardiomyopathy: A Population-Based METSIM Study
Metabolites·2022· 2 citedOpen Access
The Power of Single-Cell RNA Sequencing in eQTL Discovery
Genes·2022· 22 citedOpen Access
Prevalence, genotype and phenotype of familial hypercholesterolemia in 10,194 Finnish men
European Heart Journal·2021Open Access
Clinical and Genetic Characterization of 153 Patients with Persistent or Transient Congenital Hyperinsulinism
The Journal of Clinical Endocrinology & Metabolism·2020· 24 citedOpen Access
Family with the rare GLA-Thr410Ala mutation
Molecular Genetics and Metabolism·2020
Cardiomyopathy associated with the Ala143Thr variant of the <i>α-galactosidase A</i> gene
Heart·2020· 33 citedOpen Access
Clinical and Genetic Characterization of 148 Patients with Persistent or Transient Congenital Hyperinsulinism: A Population-Based Study in Finns
58th Annual ESPE Meeting (ESPE 2019)·2019
Low Seroprevalence of Torque Teno Virus in HCV positive patients and phylogenetic analysis from Pakistani isolates.
PubMed·2018· 5 cited
Genetic and clinical characterization of Pakistani families with Bardet-Biedl syndrome extends the genetic and phenotypic spectrum
Scientific Reports·2016· 39 citedOpen Access
Analysis of VSX1, HGF and LOX in the Pakistani familial and sporadic Keratoconus patients
2016· 1 cited
Identification of the causal variants for different inherited retinal phenotypes in a complex consanguineous family from Pakistan
Investigative Ophthalmology & Visual Science·2015
Homozygosity Mapping and Targeted Sanger Sequencing Reveal Genetic Defects Underlying Inherited Retinal Disease in Families from Pakistan
PLoS ONE·2015· 34 citedOpen Access
Screening of a Large Cohort of Leber Congenital Amaurosis and Retinitis Pigmentosa Patients Identifies Novel<i>LCA5</i>Mutations and New Genotype-Phenotype Correlations
Human Mutation·2013· 1 cited
Screening of a Large Cohort of Leber Congenital Amaurosis and Retinitis Pigmentosa Patients Identifies Novel <i>LCA5</i> Mutations and New Genotype-Phenotype Correlations
Human Mutation·2013· 38 citedOpen Access
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Frequent Co-authors

Maleeha Azam(9), Raheel Qamar(9), Frans P.M. Cremers(6), Minna U. Kaikkonen(4), Nadia K. Waheed(4), Markku Laakso(4), Johanna Kuusisto(4), Joose Raivo(4), Tiit Örd(3), Muhammad Imran Khan(3), Ronald Roepman(3), Anneke I. den Hollander(3), Syeda Hafiza Benish Ali(3), Kati Valtola(3), Marja Hedman(3), Ilkka Kantola(3), Tapio Lönnberg(2), Aarthi Ravindran(2), Henri Niskanen(2), Miika Kiema(2)