Christopher M. Richmond
Gold Coast, QLD, Australia
Last Updated: 09/26/2026
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Found 18 publications
A novel heterozygous pathogenic AIRE variant causing autoimmunity but not infectious susceptibility.
A novel heterozygous pathogenic AIRE variant causing autoimmunity but not infectious susceptibility.
Journal: Journal of human immunity
Published: July 11, 2025
A new multisystem ERCC1-hepatorenal syndrome: insights from a clinical cohort, molecular pathogenesis, and management guidelines.
Journal: European journal of human genetics : EJHG
Published: February 05, 2025
Genotyping as Part of Routine Clinical Care-The Outcomes for a Large Paediatric Vascular Anomaly Cohort.
Journal: American journal of medical genetics. Part A
Published: November 24, 2024
Loss of DOT1L disrupts neuronal transcription, behavior, and leads to a neurodevelopmental disorder.
Loss of DOT1L disrupts neuronal transcription, behavior, and leads to a neurodevelopmental disorder.
Journal: medRxiv : the preprint server for health sciences
Published: November 22, 2024
Loss of DOT1L disrupts neuronal transcription and leads to a neurodevelopmental disorder.
Journal: Brain : a journal of neurology
Published: November 07, 2024
Delineating the phenotype of RNU4ATAC-related spliceosomopathy.
Journal: American journal of medical genetics. Part A
Published: November 09, 2022
'Propped and prone' positioning reduces respiratory events in spontaneously breathing preterm infants: A randomised triple crossover study.
Journal: Journal of paediatrics and child health
Published: April 15, 2022
Delineating the CCDC22-related Ritscher-Schinzel syndrome phenotype in the original family.
Journal: American journal of medical genetics. Part A
Published: January 11, 2022
Clinical overlap of PHACE and LUMBAR syndromes.
Journal: Pediatric dermatology
Published: November 27, 2021
Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome.
Journal: American journal of human genetics
Published: October 28, 2021
Inherited variants in CHD3 show variable expressivity in Snijders Blok-Campeau syndrome.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: October 18, 2021
Clinical and laboratory reporting impact of ACMG-AMP and modified ClinGen variant classification frameworks in MYH7-related cardiomyopathy.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: September 17, 2020
Last Updated: 09/26/2026