Dimuthu Alankarage

Sydney, NSW, Australia

Last Updated: 09/26/2026

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Found 14 publications

NKX2-5 congenital heart disease mutations show diverse loss and gain of epigenomic, biochemical and chromatin search functions underpinning pathogenicity.

NKX2-5 congenital heart disease mutations show diverse loss and gain of epigenomic, biochemical and chromatin search functions underpinning pathogenicity.

Journal: bioRxiv : the preprint server for biology

Published: June 26, 2025

Neural crest cell-derived DKK1 and NEDD4 modulate Wnt signalling in the second heart field to orchestrate outflow tract development.

Neural crest cell-derived DKK1 and NEDD4 modulate Wnt signalling in the second heart field to orchestrate outflow tract development.

Journal: Nature communications

Published: May 25, 2025

Haploinsufficient variants in SMAD5 are associated with isolated congenital heart disease.

Haploinsufficient variants in SMAD5 are associated with isolated congenital heart disease.

Journal: HGG advances

Published: April 28, 2025

A three generation family with VACTERL association is found to have a rare form of diamond-blackfan anaemia.

A three generation family with VACTERL association is found to have a rare form of diamond-blackfan anaemia.

Journal: European journal of human genetics : EJHG

Published: January 20, 2025

A metabolic signature for NADSYN1-dependent congenital NAD deficiency disorder.

A metabolic signature for NADSYN1-dependent congenital NAD deficiency disorder.

Journal: The Journal of clinical investigation

Published: September 06, 2023

Quantitative trait and transcriptome analysis of genetic complexity underpinning cardiac interatrial septation in mice using an advanced intercross line.

Quantitative trait and transcriptome analysis of genetic complexity underpinning cardiac interatrial septation in mice using an advanced intercross line.

Journal: eLife

Published: September 21, 2022

Myhre syndrome is caused by dominant-negative dysregulation of SMAD4 and other co-factors.

Myhre syndrome is caused by dominant-negative dysregulation of SMAD4 and other co-factors.

Journal: Differentiation; research in biological diversity

Published: September 15, 2022

CHDgene: A Curated Database for Congenital Heart Disease Genes.

CHDgene: A Curated Database for Congenital Heart Disease Genes.

Journal: Circulation. Genomic and precision medicine

Published: May 06, 2022

Dataset of differentially expressed genes in mouse P12 testes in response to the loss of ATRX in Sertoli cells.

Dataset of differentially expressed genes in mouse P12 testes in response to the loss of ATRX in Sertoli cells.

Journal: Data in brief

Published: February 07, 2022

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

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

Journal: Human molecular genetics

Published: July 26, 2019

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

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

Journal: Human molecular genetics

Published: June 27, 2019

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

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

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: June 23, 2018

Showing 1-12 of 14

Last Updated: 09/26/2026