Mark Corbett

Australia

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Articles (10)

Year:

2023

Year:

2022

Year:

2022

Year:

2021

Year:

2021

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2021

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2021

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2021

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2021

Year:

2021

Collaborators (22)

Ghamdan Al-Eryani

University of New South Wales

AUSTRALIA

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Richard Mills

Flinders University

AUSTRALIA

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James Blackburn

Garvan Institute of Medical Research

AUSTRALIA

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Sebastian Lunke

AUSTRALIA

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Kenneth Tan

MONASH UNIVERSITY

AUSTRALIA

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Rebekah V Harris

University of Melbourne

AUSTRALIA

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Michael Lardelli

Lecturer, then Senior Lecturer, then Associate Professor in Genetics

University of Adelaide

AUSTRALIA

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Mark Williams

Chief Scientist

AUSTRALIA

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Ruebena Dawes

University of Oxford

UNITED KINGDOM

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Eduardo Eyras

Professor

Australian National University

AUSTRALIA

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Samuel Berkovic

University of Melbourne

AUSTRALIA

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Dominic Lenz

GERMANY

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John Neidhardt

Full Prof.

University of Oldenburg

GERMANY

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Stephanie White

AUSTRALIA

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Jozef Gecz

AUSTRALIA

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Marcella Zollino

Università Cattolica del Sacro Cuore

ITALY

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Robert Weatheritt

Associate Professor

UNSW Sydney

AUSTRALIA

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Melissa Pitman

Senior Lecturer, Lab Head

University of Adelaide

AUSTRALIA

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Abraham Kuot

Flinders University

AUSTRALIA

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Cheryl Shoubridge

University of Adelaide

AUSTRALIA

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Elodie M. Richard

FRANCE

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Belinda Chong

Head of Clinical Genomics

AUSTRALIA

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Mark Corbett

Research Interests

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Articles (10)

Aicardi Syndrome Is a Genetically Heterogeneous Disorder

Oligonucleotide correction of an intronic TIMMDC1 variant in cells of patients with severe neurodegenerative disorder

Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants

Differential gene expression analysis of corneal endothelium indicates involvement of phagocytic activity in Fuchs’ endothelial corneal dystrophy

A 127 kb truncating deletion of PGRMC1 is a novel cause of X-linked isolated paediatric cataract

Association of SLC32A1 Missense Variants With Genetic Epilepsy With Febrile Seizures Plus

Author Correction: Mutations disrupting neuritogenesis genes confer risk for cerebral palsy (Nature Genetics, (2020), 52, 10, (1046-1056), 10.1038/s41588-020-0695-1)

Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss

Different types of disease-causing noncoding variants revealed by genomic and gene expression analyses in families with X-linked intellectual disability

Integrated in silico and experimental assessment of disease relevance of PCDH19 missense variants

Collaborators (22)

Ghamdan Al-Eryani

Richard Mills

James Blackburn

Sebastian Lunke

Kenneth Tan

Rebekah V Harris

Michael Lardelli

Mark Williams

Ruebena Dawes

Eduardo Eyras

Samuel Berkovic

Dominic Lenz

John Neidhardt

Stephanie White

Jozef Gecz

Marcella Zollino

Robert Weatheritt

Melissa Pitman

Abraham Kuot

Cheryl Shoubridge

Elodie M. Richard

Belinda Chong

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