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Peter G. Procopis

The University of Sydney · AU
🔎 Find collaborators in Molecular Biology · Clinical Biochemistry →
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Area of research
Molecular Biology · Clinical Biochemistry
Research interest
Research interests include Metabolism and Genetic Disorders, Epilepsy research and treatment, RNA regulation and disease, and Congenital Heart Disease Studies.
h-index
13
citations
591
works
39
NIH funding
—
primary concept
—
email
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Recent publications

A patient with homozygous nonsense variants in two Leigh syndrome disease genes: Distinguishing a dual diagnosis from a hypomorphic protein‐truncating variant
Human Mutation 2019cited by 9position: middledoi
Diagnostic yield of targeted massively parallel sequencing in children with epileptic encephalopathy
Seizure 2018cited by 80position: middledoi
A Founder Mutation in PET100 Causes Isolated Complex IV Deficiency in Lebanese Individuals with Leigh Syndrome
The American Journal of Human Genetics 2014cited by 70position: middledoi

Grants

No grants ingested yet.

Frequent collaborators

John Christodoulou · Rockefeller University3 papers (2014–2019)David A. Stroud · Office of the Director2 papers (2014–2019)David R. Thorburn · Royal Children's Hospital2 papers (2014–2019)— · 2 papers (2014–2019)Michael T. Ryan · Australian Regenerative Medicine Institute2 papers (2014–2019)Sarah E. Calvo · Massachusetts Institute of Technology1 papers (2019–2019)Bridget Wilcken · The University of Sydney1 papers (2014–2014)Christopher Troedson · Children's Hospital at Westmead1 papers (2018–2018)Luke E. Formosa · Monash University1 papers (2019–2019)Richard Webster · The University of Sydney1 papers (2018–2018)— · 1 papers (2014–2014)Gladys Ho · The University of Sydney1 papers (2018–2018)Matthew McKenzie · Monash University1 papers (2014–2014)Simone Ardern‐Holmes · Children's Hospital at Westmead1 papers (2018–2018)Luke C. Gandolfo · The University of Melbourne1 papers (2014–2014)Deepak Gill · The University of Sydney1 papers (2018–2018)— · 1 papers (2014–2014)Katherine R. Smith · University Hospitals Bristol and Weston NHS Foundation Trust1 papers (2014–2014)David Mowat · UNSW Sydney1 papers (2014–2014)Bruce Bennetts · The University of Sydney1 papers (2018–2018)
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