Oliver Heath
7PUBLICATIONS
77CO-AUTHORS
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Publications (7)
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|Oct 22, 2025
Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function.Reza Asadollahi, Aisha Ahmad, Paranchai Boonsawat
|Jul 08, 2024
Diagnosis and stabilisation of familial chylomicronemia syndrome in two infants presenting with hypertriglyceridemia-induced acute pancreatitis.Oliver Heath, Brooke Allender, Joel Smith
|May 25, 2024
Ending an Odyssey? The Psychosocial Experiences of Parents after the Genetic Diagnosis of a Mitochondrial Disease in Children.Oliver Heath, Emma Hammerl, Anna Spitzinger
|Sep 29, 2023
Histologically atypical case of Gaucher disease type 1.Jessica Sabljak, Oliver Heath, Rebecca Halligan
|Sep 13, 2023
Interstitial lung disease and pancreatic exocrine insufficiency in CADDS: Phenotypic expansion and literature review.Oliver Heath, Dinusha Pandithan, James Pitt
|Jan 21, 2022
Biallelic Variants in PYROXD2 Cause a Severe Infantile Metabolic Disorder Affecting Mitochondrial Function.Nicole J Van Bergen, Daniella H Hock, Lucy Spencer
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Frequent Collaborators
2 joint publications
Zornitza Stark
2 joint publications
John Christodoulou
2 joint publications
Rebecca Halligan
1 joint publications
Nicole J Van Bergen
1 joint publications
Daniella H Hock
1 joint publications
Sebastian Lunke
1 joint publications
Joseph Yuan-Mou Yang
1 joint publications
David R Thorburn
1 joint publications
David A Stroud
1 joint publications
Dinusha Pandithan
