Dr Katherine Schon - Publications

Congenital Insensitivity to Pain Overview

08 Feb 2018

Genotype, extrapyramidal features, and severity of variant ataxia-telangiectasia

14 Dec 2018

Mitochondrial Diseases: A Diagnostic Revolution

13 Jul 2020

Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study

04 Nov 2021

Nuclear-embedded mitochondrial DNA sequences in 66,083 human genomes

05 Oct 2022