Kathy C. Wu

St Vincent's Clinical Campus, UNSW
Darlinghurst, NSW 2010, Australia

Last Updated: 09/26/2026

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Found 19 publications

Comprehensive Characterisation of the RFC1 Repeat in an Australian Cohort.

Comprehensive Characterisation of the RFC1 Repeat in an Australian Cohort.

Journal: Cerebellum (London, England)

Published: June 01, 2025

An unseen danger: A case of left atrial cardiomyopathy proceeding left atrial dissection.

An unseen danger: A case of left atrial cardiomyopathy proceeding left atrial dissection.

Journal: HeartRhythm case reports

Published: April 04, 2025

Correction: Improving detection of monogenic diabetes through reanalysis of GCK variants of uncertain significance.

Correction: Improving detection of monogenic diabetes through reanalysis of GCK variants of uncertain significance.

Journal: Acta diabetologica

Published: February 27, 2025

Improving detection of monogenic diabetes through reanalysis of GCK variants of uncertain significance.

Improving detection of monogenic diabetes through reanalysis of GCK variants of uncertain significance.

Journal: Acta diabetologica

Published: December 12, 2024

Case Series of Cerebellar Ataxia with Tremor Due to Heterozygous STUB1 Variants (SCA48) without TBP Expansions: Further Evidence for SCA48 as a Monogenic Disease.

Case Series of Cerebellar Ataxia with Tremor Due to Heterozygous STUB1 Variants (SCA48) without TBP Expansions: Further Evidence for SCA48 as a Monogenic Disease.

Journal: Cerebellum (London, England)

Published: November 01, 2024

A prospective trial comparing programmable targeted long-read sequencing and short-read genome sequencing for genetic diagnosis of cerebellar ataxia.

A prospective trial comparing programmable targeted long-read sequencing and short-read genome sequencing for genetic diagnosis of cerebellar ataxia.

Journal: Genome research

Published: June 11, 2024

Identification of monogenic diabetes in an Australian cohort using the Exeter maturity-onset diabetes of the young (MODY) probability calculator and next-generation sequencing gene panel testing.

Identification of monogenic diabetes in an Australian cohort using the Exeter maturity-onset diabetes of the young (MODY) probability calculator and next-generation sequencing gene panel testing.

Journal: Acta diabetologica

Published: July 10, 2023

A mitochondrial cytopathy presenting with persistent troponin elevation: case report.

A mitochondrial cytopathy presenting with persistent troponin elevation: case report.

Journal: European heart journal. Case reports

Published: August 01, 2022

Informing a value care model: lessons from an integrated adult neurogenomics clinic.

Informing a value care model: lessons from an integrated adult neurogenomics clinic.

Journal: Internal medicine journal

Published: May 13, 2022

Tip of the iceberg: are we missing undiagnosed patients with maturity onset diabetes of the young?

Tip of the iceberg: are we missing undiagnosed patients with maturity onset diabetes of the young?

Journal: Internal medicine journal

Published: April 20, 2022

A novel synonymous KMT2B variant in a patient with dystonia causes aberrant splicing.

A novel synonymous KMT2B variant in a patient with dystonia causes aberrant splicing.

Journal: Molecular genetics & genomic medicine

Published: January 07, 2022

Left Atrial Cardiomyopathy with Left Atrial Thrombus despite Sinus Rhythm in a Patient with Severe Ventricular Cardiomyopathy Requiring Cardiac Transplantation.

Left Atrial Cardiomyopathy with Left Atrial Thrombus despite Sinus Rhythm in a Patient with Severe Ventricular Cardiomyopathy Requiring Cardiac Transplantation.

Journal: CASE (Philadelphia, Pa.)

Published: August 25, 2021

Showing 1-12 of 19

Last Updated: 09/26/2026