Maleeha Maria

Dissecting the polygenic basis of atherosclerosis via disease-associated cell state signatures

Tiit Örd, Tapio Lönnberg, Valtteri Nurminen et al. · The American Journal of Human Genetics · 2023 · 43 citations · Full text

Genetic and clinical characterization of Pakistani families with Bardet-Biedl syndrome extends the genetic and phenotypic spectrum

Maleeha Maria, Ideke J.C. Lamers, Miriam Schmidts et al. · Scientific Reports · 2016 · 39 citations · Full text

Screening of a Large Cohort of Leber Congenital Amaurosis and Retinitis Pigmentosa Patients Identifies Novel <i>LCA5</i> Mutations and New Genotype-Phenotype Correlations

Donna S. Mackay, Arundhati Dev Borman, Ruifang Sui et al. · Human Mutation · 2013 · 38 citations · Full text

Ocular Disease, Genetics, Genetic Epidemiology +20

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

Maleeha Maria, Muhammad Ajmal, Maleeha Azam et al. · PLoS ONE · 2015 · 34 citations · Full text

Cardiomyopathy associated with the Ala143Thr variant of the <i>α-galactosidase A</i> gene

Kati Valtola, Juanita Nino-Quintero, Marja Hedman et al. · Heart · 2020 · 33 citations · Full text