Katherine R. Schon

Cambridge, ENG CB20SR, United Kingdom

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 35 publications

Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline ATM sequence variants.

Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline ATM sequence variants.

Journal: American journal of human genetics

Published: March 27, 2026

Neurological disease progression in adults with ataxia telangiectasia: a longitudinal study.

Neurological disease progression in adults with ataxia telangiectasia: a longitudinal study.

Journal: Brain : a journal of neurology

Published: February 17, 2026

The clinical and molecular spectrum of AGO2-associated Lessel-Kreienkamp neurodevelopmental syndrome.

The clinical and molecular spectrum of AGO2-associated Lessel-Kreienkamp neurodevelopmental syndrome.

Journal: Genome medicine

Published: December 16, 2025

Charting the phenotypic landscape of mitochondrial diseases through a systematic evaluation of pathogenic mitochondrial DNA and nuclear gene variants.

Charting the phenotypic landscape of mitochondrial diseases through a systematic evaluation of pathogenic mitochondrial DNA and nuclear gene variants.

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

Published: May 05, 2025

Management of individuals with heterozygous germline pathogenic variants in ATM: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).

Management of individuals with heterozygous germline pathogenic variants in ATM: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).

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

Published: August 23, 2024

A Novel Splice Site Variant in KLHL40 Gene in Multiple Affected NEM8 Family Members Who Present Phenotypic Variability.

A Novel Splice Site Variant in KLHL40 Gene in Multiple Affected NEM8 Family Members Who Present Phenotypic Variability.

Journal: Molecular syndromology

Published: June 14, 2024

Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline ATM sequence variants.

Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline ATM sequence variants.

Journal: medRxiv : the preprint server for health sciences

Published: June 10, 2024

Mitochondrial DNA disorders in neuromuscular diseases in diverse populations.

Mitochondrial DNA disorders in neuromuscular diseases in diverse populations.

Journal: Annals of clinical and translational neurology

Published: May 22, 2024

Increased Diagnostic Yield by Reanalysis of Whole Exome Sequencing Data in Mitochondrial Disease.

Increased Diagnostic Yield by Reanalysis of Whole Exome Sequencing Data in Mitochondrial Disease.

Journal: Journal of neuromuscular diseases

Published: May 17, 2024

Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline ATM sequence variants.

Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline ATM sequence variants.

Journal: American journal of human genetics

Published: May 14, 2024

Evidence for sodium valproate toxicity in mitochondrial diseases: a systematic analysis.

Evidence for sodium valproate toxicity in mitochondrial diseases: a systematic analysis.

Journal: BMJ neurology open

Published: January 16, 2024

Case report: Mutations in DNAJC30 causing autosomal recessive Leber hereditary optic neuropathy are common amongst Eastern European individuals.

Case report: Mutations in DNAJC30 causing autosomal recessive Leber hereditary optic neuropathy are common amongst Eastern European individuals.

Journal: Frontiers in neurology

Published: September 11, 2023

Showing 1-12 of 35

Last Updated: 09/26/2026