Dimuthu Alankarage

Identification of clinically actionable variants from genome sequencing of families with congenital heart disease

Dimuthu Alankarage, Eddie Ip, Justin O. Szot et al. · Genetics in Medicine · 2018 · 84 citations · Full text

Engineering, Variant Interpretation, Medicine +11

Functional genomics and gene-environment interaction highlight the complexity of congenital heart disease caused by Notch pathway variants

Gavin Chapman, Julie Moreau, I P Eddie et al. · Human Molecular Genetics · 2019 · 49 citations · Full text

Genetics, Cardiac Progenitor Cells, Molecular Genetics +16

Functional characterization of a novel PBX1 de novo missense variant identified in a patient with syndromic congenital heart disease

Dimuthu Alankarage, Justin O. Szot, Nick Pachter et al. · Human Molecular Genetics · 2019 · 32 citations · Full text

Pbx1 Protein, Genetics, Genetic Epidemiology +20

SOX9 regulates expression of the male fertility gene Ets variant factor 5 (ETV5) during mammalian sex development

Dimuthu Alankarage, Rowena Lavery, Terje Svingen et al. · The International Journal of Biochemistry & Cell Biology · 2016 · 30 citations

A metabolic signature for NADSYN1-dependent congenital NAD deficiency disorder

Justin O. Szot, Hartmut Cuny, Ella MMA Martin et al. · Journal of Clinical Investigation · 2024 · 21 citations · Full text

Metabolic Disorder, Genetics, Nicotinamide Adenine Dinucleotide +16