Meredith J. Wilson

Westmead, NSW 2145, Australia

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 56 publications

A severe neurodevelopmental syndrome linked to a South Asian founder variant in the UFMylation adaptor CDK5RAP3.

A severe neurodevelopmental syndrome linked to a South Asian founder variant in the UFMylation adaptor CDK5RAP3.

Journal: Acta neuropathologica

Published: March 29, 2026

Phenotype Spectrum of TRPM3-Associated Disorders.

Phenotype Spectrum of TRPM3-Associated Disorders.

Journal: Annals of neurology

Published: June 25, 2024

Germline thymidylate synthase deficiency impacts nucleotide metabolism and causes dyskeratosis congenita.

Germline thymidylate synthase deficiency impacts nucleotide metabolism and causes dyskeratosis congenita.

Journal: American journal of human genetics

Published: June 12, 2024

Narrowing the diagnostic gap: Genomes, episignatures, long-read sequencing, and health economic analyses in an exome-negative intellectual disability cohort.

Narrowing the diagnostic gap: Genomes, episignatures, long-read sequencing, and health economic analyses in an exome-negative intellectual disability cohort.

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

Published: June 30, 2023

Integrated multi-omics for rapid rare disease diagnosis on a national scale.

Integrated multi-omics for rapid rare disease diagnosis on a national scale.

Journal: Nature medicine

Published: December 15, 2022

Germline thymidylate synthase deficiency impacts nucleotide metabolism and causes dyskeratosis congenita.

Germline thymidylate synthase deficiency impacts nucleotide metabolism and causes dyskeratosis congenita.

Journal: American journal of human genetics

Published: April 28, 2022

De novo putative loss-of-function variants in TAF4 are associated with a neuro-developmental disorder.

De novo putative loss-of-function variants in TAF4 are associated with a neuro-developmental disorder.

Journal: Human mutation

Published: January 27, 2022

Whole exome and genome sequencing in mendelian disorders: a diagnostic and health economic analysis.

Whole exome and genome sequencing in mendelian disorders: a diagnostic and health economic analysis.

Journal: European journal of human genetics : EJHG

Published: October 08, 2021

SUFU haploinsufficiency causes a recognisable neurodevelopmental phenotype at the mild end of the Joubert syndrome spectrum.

SUFU haploinsufficiency causes a recognisable neurodevelopmental phenotype at the mild end of the Joubert syndrome spectrum.

Journal: Journal of medical genetics

Published: July 30, 2021

The Role of ZEB2 in Human CD8 T Lymphocytes: Clinical and Cellular Immune Profiling in Mowat-Wilson Syndrome.

The Role of ZEB2 in Human CD8 T Lymphocytes: Clinical and Cellular Immune Profiling in Mowat-Wilson Syndrome.

Journal: International journal of molecular sciences

Published: April 14, 2021

Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants.

Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants.

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

Published: March 24, 2021

Genome sequencing in families with congenital limb malformations.

Genome sequencing in families with congenital limb malformations.

Journal: Human genetics

Published: March 18, 2021

Showing 1-12 of 56

Last Updated: 09/26/2026