Mark A. Corbett

Adelaide, SA, Australia

Last Updated: 09/26/2026

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Found 85 publications

Testing the performance of polygenic scores for multiple traits to explain cerebral palsy in two independent cohorts.

Testing the performance of polygenic scores for multiple traits to explain cerebral palsy in two independent cohorts.

Journal: EBioMedicine

Published: November 24, 2025

Genetic diagnostic yield by MRI pattern in children with cerebral palsy: a population-based study.

Genetic diagnostic yield by MRI pattern in children with cerebral palsy: a population-based study.

Journal: EBioMedicine

Published: June 17, 2025

Refining Aicardi Syndrome diagnostic Criteria: an expert-based consensus using a modified Delphi approach.

Refining Aicardi Syndrome diagnostic Criteria: an expert-based consensus using a modified Delphi approach.

Journal: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society

Published: March 12, 2025

Novel, complex configurations of the MARCHF6 repeat expansion associated with progressive myoclonic epilepsy and familial adult myoclonic epilepsy.

Novel, complex configurations of the MARCHF6 repeat expansion associated with progressive myoclonic epilepsy and familial adult myoclonic epilepsy.

Journal: Brain communications

Published: January 19, 2025

Epigenomic newborn screening for conditions with intellectual disability and autistic features in Australian newborns.

Epigenomic newborn screening for conditions with intellectual disability and autistic features in Australian newborns.

Journal: Epigenomics

Published: October 04, 2024

Loss of PHF6 causes spontaneous seizures, enlarged brain ventricles and altered transcription in the cortex of a mouse model of the Börjeson-Forssman-Lehmann intellectual disability syndrome.

Loss of PHF6 causes spontaneous seizures, enlarged brain ventricles and altered transcription in the cortex of a mouse model of the Börjeson-Forssman-Lehmann intellectual disability syndrome.

Journal: PLoS genetics

Published: July 03, 2024

CRISPR-mediated megabase-scale transgene de-duplication to generate a functional single-copy full-length humanized DMD mouse model.

CRISPR-mediated megabase-scale transgene de-duplication to generate a functional single-copy full-length humanized DMD mouse model.

Journal: BMC biology

Published: May 03, 2024

Optical genome mapping enables accurate testing of large repeat expansions.

Optical genome mapping enables accurate testing of large repeat expansions.

Journal: Genome research

Published: April 19, 2024

RNA variant assessment using transactivation and transdifferentiation.

RNA variant assessment using transactivation and transdifferentiation.

Journal: American journal of human genetics

Published: March 08, 2024

Application of multiple mosaic callers improves post-zygotic mutation detection from exome sequencing data.

Application of multiple mosaic callers improves post-zygotic mutation detection from exome sequencing data.

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

Published: November 21, 2023

Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestalt.

Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestalt.

Journal: American journal of human genetics

Published: August 06, 2023

Narrowing the diagnostic gap: Genomes, episignatures, long-read sequencing, and health economic analyses in an exome-negative intellectual disability cohort.

Narrowing the diagnostic gap: Genomes, episignatures, long-read sequencing, and health economic analyses in an exome-negative intellectual disability cohort.

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

Published: June 30, 2023

Showing 1-12 of 85

Last Updated: 09/26/2026