Katharine Y. Zhang

2 Technology Place
North Ryde, NSW 2109, Australia

Last Updated: 09/26/2026

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Found 18 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

Pyroxd1 is essential for murine viability with the homozygous N155S recurrent variant linked to myopathy, muscle hypotrophy and osteopenia.

Pyroxd1 is essential for murine viability with the homozygous N155S recurrent variant linked to myopathy, muscle hypotrophy and osteopenia.

Journal: Acta neuropathologica communications
Published: November 10, 2025

Refining clinically relevant parameters for mis-splicing risk in shortened introns with donor-to-branchpoint space constraint.

Refining clinically relevant parameters for mis-splicing risk in shortened introns with donor-to-branchpoint space constraint.

Journal: European journal of human genetics : EJHG
Published: December 05, 2023

Compound heterozygous splicing variants expand the genotypic spectrum of EMC1-related disorders.

Compound heterozygous splicing variants expand the genotypic spectrum of EMC1-related disorders.

Journal: Clinical genetics
Published: August 31, 2022

Prevalence, parameters, and pathogenic mechanisms for splice-altering acceptor variants that disrupt the AG exclusion zone.

Prevalence, parameters, and pathogenic mechanisms for splice-altering acceptor variants that disrupt the AG exclusion zone.

Journal: HGG advances
Published: April 20, 2022

Splicing factor proline and glutamine rich intron retention, reduced expression and aggregate formation are pathological features of amyotrophic lateral sclerosis.

Splicing factor proline and glutamine rich intron retention, reduced expression and aggregate formation are pathological features of amyotrophic lateral sclerosis.

Journal: Neuropathology and applied neurobiology
Published: December 03, 2020

Evidence for polygenic and oligogenic basis of Australian sporadic amyotrophic lateral sclerosis.

Evidence for polygenic and oligogenic basis of Australian sporadic amyotrophic lateral sclerosis.

Journal: Journal of medical genetics
Published: January 20, 2020

Genetic and immunopathological analysis of CHCHD10 in Australian amyotrophic lateral sclerosis and frontotemporal dementia and transgenic TDP-43 mice.

Genetic and immunopathological analysis of CHCHD10 in Australian amyotrophic lateral sclerosis and frontotemporal dementia and transgenic TDP-43 mice.

Journal: Journal of neurology, neurosurgery, and psychiatry
Published: August 05, 2019

The C9orf72 hexanucleotide repeat expansion presents a challenge for testing laboratories and genetic counseling.

The C9orf72 hexanucleotide repeat expansion presents a challenge for testing laboratories and genetic counseling.

Journal: Amyotrophic lateral sclerosis & frontotemporal degeneration
Published: March 26, 2019

Monozygotic twins and triplets discordant for amyotrophic lateral sclerosis display differential methylation and gene expression.

Monozygotic twins and triplets discordant for amyotrophic lateral sclerosis display differential methylation and gene expression.

Journal: Scientific reports
Published: January 10, 2019

Genetic and Pathological Assessment of hnRNPA1, hnRNPA2/B1, and hnRNPA3 in Familial and Sporadic Amyotrophic Lateral Sclerosis.

Genetic and Pathological Assessment of hnRNPA1, hnRNPA2/B1, and hnRNPA3 in Familial and Sporadic Amyotrophic Lateral Sclerosis.

Journal: Neuro-degenerative diseases
Published: June 09, 2017

Postnatal Development of Spasticity Following Transgene Insertion in the Mouse βIV Spectrin Gene (SPTBN4).

Postnatal Development of Spasticity Following Transgene Insertion in the Mouse βIV Spectrin Gene (SPTBN4).

Journal: Journal of neuromuscular diseases
Published: June 07, 2017
Showing 1-12 of 18

Last Updated: 09/26/2026