Publications by authors named "Andrew Fennell"

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From tradition to transformation: evolving models of care in clinical genetics.
Helen Curd, Anita Gorrie, Andrew Paul Fennell

Curr Opin Pediatr· December 2025

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Lifesaving Diagnosis Through Prenatal Genomic Sequencing.
Andrew P Fennell, Tony Roscioli, Michael Buckley, Ari E Horton, Sarah Long

Obstet Gynecol Surv· December 2025

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Mutations in the Key Autophagy Tethering Factor EPG5 Link Neurodevelopmental and Neurodegenerative Disorders Including Early-Onset Parkinsonism.
Hormos Salimi Dafsari, Celine Deneubourg, Kritarth Singh, Reza Maroofian, Zita Suprenant, Andrew Paul Fennell

Ann Neurol· November 2025

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Lifesaving Diagnosis through Prenatal Genomic Sequencing.
Andrew P Fennell, Tony Roscioli, Michael Buckley, Ari E Horton, Sarah Long

N Engl J Med· July 2025

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Seven Novel Variants of Weiss-Kruszka Syndrome and Phenotype Expansion.
Anna Hau, Anne Baxter, Kate Chandler, Andrew Fennell, Tzung-Chien Hsieh

Am J Med Genet A· February 2025

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Experience of the first adult-focussed undiagnosed disease program in Australia (AHA-UDP): solving rare and puzzling genetic disorders is ageless.
Mathew Wallis, Simon D Bodek, Jacob Munro, Haloom Rafehi, Mark F Bennett, Andrew Fennell

Orphanet J Rare Dis· August 2024

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Narrowing the diagnostic gap: Genomes, episignatures, long-read sequencing, and health economic analyses in an exome-negative intellectual disability cohort.
Kerith-Rae Dias, Rupendra Shrestha, Deborah Schofield, Carey-Anne Evans, Emily O'Heir, Andrew Paul Fennell

Genet Med· May 2024

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Mainstreaming genomic testing: pre-test counselling and informed consent.
Michaela Cormack, Kathryn B Irving, Fiona Cunningham, Andrew P Fennell

Med J Aust· May 2024

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Elusive variants in autosomal recessive disease: how can we improve timely diagnosis?
Ari E Horton, Sebastian Lunke, Simon Sadedin, Andrew P Fennell, Zornitza Stark

Eur J Hum Genet· April 2023

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The diverse pleiotropic effects of spliceosomal protein PUF60: A case series of Verheij syndrome.
Andrew Paul Fennell, Anne Elizabeth Baxter, Samuel Frank Berkovic, Carolyn Jane Ellaway, Caitlin Forwood

Am J Med Genet A· December 2022

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Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants.
Adam M Bournazos, Lisa G Riley, Shobhana Bommireddipalli, Lesley Ades, Lauren S Akesson, Andrew Fennell

Genet Med· January 2022

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Rapid exome sequencing and adjunct RNA studies confirm the pathogenicity of a novel homozygous ASNS splicing variant in a critically ill neonate.
Lauren S Akesson, Adam Bournazos, Andrew Fennell, Emma I Krzesinski, Kenneth Tan

Hum Mutat· November 2020

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Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System.

JAMA· June 2020

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The changing face of clinical genetics service delivery in the era of genomics: a framework for monitoring service delivery and data from a comprehensive metropolitan general genetics service.
Andrew Paul Fennell, Matthew Frank Hunter, Gregory Philip Corboy

Genet Med· January 2020

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