Cathryn J. Poulton

Subiaco, WA, Australia

Last Updated: 09/26/2026

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Found 25 publications

A precision medicine approach to interpret a GATA4 genetic variant in a paediatric patient with congenital heart disease.

A precision medicine approach to interpret a GATA4 genetic variant in a paediatric patient with congenital heart disease.

Journal: Human genomics
Published: October 02, 2025

Role of CAMK2D in neurodevelopment and associated conditions.

Role of CAMK2D in neurodevelopment and associated conditions.

Journal: American journal of human genetics
Published: August 12, 2025

Catastrophic Congenital Hemangioma Resulting in Neonatal Death.

Catastrophic Congenital Hemangioma Resulting in Neonatal Death.

Journal: Journal of paediatrics and child health
Published: June 05, 2025

Functional characterization of the MED12 p.Arg1138Trp variant in females: implications for neural development and disease mechanism.

Functional characterization of the MED12 p.Arg1138Trp variant in females: implications for neural development and disease mechanism.

Journal: Molecular medicine (Cambridge, Mass.)
Published: May 23, 2025

Segmental Congenital Vascular Anomaly With Atrophy, Ulceration and Scarring With Complications in Pregnancy.

Segmental Congenital Vascular Anomaly With Atrophy, Ulceration and Scarring With Complications in Pregnancy.

Journal: The Australasian journal of dermatology
Published: November 27, 2024

Six cases of ENPP1 pathogenic variants causing autosomal recessive hypophosphatemic rickets type 2 and generalized arterial calcification of infancy.

Six cases of ENPP1 pathogenic variants causing autosomal recessive hypophosphatemic rickets type 2 and generalized arterial calcification of infancy.

Journal: JBMR plus
Published: August 24, 2024

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

Compromised transcription-mRNA export factor THOC2 causes R-loop accumulation, DNA damage and adverse neurodevelopment.

Compromised transcription-mRNA export factor THOC2 causes R-loop accumulation, DNA damage and adverse neurodevelopment.

Journal: Nature communications
Published: June 16, 2023

Role of CAMK2D in neurodevelopment and associated conditions.

Role of CAMK2D in neurodevelopment and associated conditions.

Journal: American journal of human genetics
Published: April 10, 2023

BRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients.

BRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients.

Journal: European journal of human genetics : EJHG
Published: December 22, 2022

Further evidence for distinct traits associated with RBM10 missense variants.

Further evidence for distinct traits associated with RBM10 missense variants.

Journal: Clinical genetics
Published: February 19, 2022

Functional correlation of genome-wide DNA methylation profiles in genetic neurodevelopmental disorders.

Functional correlation of genome-wide DNA methylation profiles in genetic neurodevelopmental disorders.

Journal: Human mutation
Published: December 06, 2021
Showing 1-12 of 25

Last Updated: 09/26/2026