Get started
Author

Andrew Paul Fennell

Observed names: Andrew Fennell, Andrew P Fennell, Andrew P. Fennell, Fennell, A
Observed institutions: The University of Melbourne, Royal Brisbane and Women's Hospital, Austin Hospital, Monash Medical Centre, Tallaght University Hospital, Monash Children’s Hospital, Monash Health, Austin Health, NSW Health Pathology, Monash University, Neuroscience Research Australia
ORCID: 0000-0001-6744-1810
Observed ORCID: 0000-0001-6744-1810
OpenAlex ID: A5024850953
Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System
2020 · Australian Genomics Health Alliance Acute Care Flagship, Sebastian Lunke, et al. · JAMA · 238
PDF
Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants
2021 · Adam M. Bournazos, Lisa G. Riley, et al. · Genetics in Medicine · 97
Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death
2023 · Alicia B. Byrne, Peer Arts, et al. · Nature Medicine · 66
PDF
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
2019 · Andrew Paul Fennell, Matthew Frank Hunter, et al. · Genetics in Medicine · 19
PDF
The diverse pleiotropic effects of spliceosomal protein PUF60 : A case series of Verheij syndrome
2022 · Andrew Paul Fennell, Anne Elizabeth Baxter, et al. · American Journal of Medical Genetics Part A · 18
Mainstreaming genomic testing: pre‐test counselling and informed consent
2024 · Michaela Cormack, Kathryn B Irving, et al. · The Medical Journal of Australia · 13
Rapid exome sequencing and adjunct RNA studies confirm the pathogenicity of a novel homozygous ASNS splicing variant in a critically ill neonate
2020 · Lauren S. Akesson, Adam Bournazos, et al. · Human Mutation · 12
PDF
Experience of the first adult-focussed undiagnosed disease program in Australia (AHA-UDP): solving rare and puzzling genetic disorders is ageless
2024 · Mathew Wallis, Simon D. Bodek, et al. · Orphanet Journal of Rare Diseases · 10
PDF
Narrowing the diagnostic gap: Genomes, episignatures, long-read sequencing, and health economic analyses in an exome-negative intellectual disability cohort
2024 · Kerith-Rae Dias, Rupendra Shrestha, et al. · Genetics in Medicine · 10
PDF
Mutations in the Key Autophagy Tethering Factor EPG5 Link Neurodevelopmental and Neurodegenerative Disorders Including Early‐Onset Parkinsonism
2025 · Hormos Salimi Dafsari, Celine Deneubourg, et al. · Annals of Neurology · 8
PDF
Biallelic variants in RNU2-2 cause a remarkably frequent developmental epileptic encephalopathy
2025 · Adam Jackson, Alexander JM Blakes, et al. · medRxiv · 8
PDF
Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System
2020 · Sebastian Lunke, Stefanie Eggers, et al. · Obstetrical & Gynecological Survey · 7
Mutations in EPG5 are associated with a wide spectrum of neurodevelopmental and neurodegenerative disorders
2024 · Hormos Salimi Dafsari, Celine Deneubourg, et al. · medRxiv · 6
Elusive variants in autosomal recessive disease: how can we improve timely diagnosis?
2023 · Ari E. Horton, Sebastian Lunke, et al. · European Journal of Human Genetics · 6
PDF
From tradition to transformation: evolving models of care in clinical genetics
2025 · Helen Curd, Anita Gorrie, et al. · Current Opinion in Pediatrics · 5
Lifesaving Diagnosis Through Prenatal Genomic Sequencing
2025 · Andrew P. Fennell, Tony Roscioli, et al. · New England Journal of Medicine · 2
Seven Novel Variants of Weiss‐Kruszka Syndrome and Phenotype Expansion
2024 · Anna Hau, Anne Baxter, et al. · American Journal of Medical Genetics Part A · 2
PDF
Rapid exome sequencing and adjunct rna studies confirm pathogenicity of a novel homozygous asns splicing variant in a critically ill neonate
2020 · Lauren S. Akesson, Adam Bournazos, et al. · Pathology · 2
Establishing The Australian Undiagnosed Disease Network (UDN-Aus); Australia’s first national rare disease diagnostic network
2026 · Ellenore M Martin, Madeleine Harris, et al. · Research Square · 1
PDF
Biallelic variants in RNU2-2 cause a remarkably frequent developmental and epileptic encephalopathy
2026 · Adam Jackson, Alexander J. M. Blakes, et al. · Nature Genetics · 1
PDF
Author Correction: Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death
2023 · Alicia B. Byrne, Peer Arts, et al. · Nature Medicine · 1
PDF
Iterative genetic testing identifies SAMHD1 deficiency caused by a homozygous balanced translocation
2026 · Paul J. Baker, Yaoyuan Zhang, et al. · Journal of Human Immunity
Unraveling a Diagnostic Enigma: A TECPR2 Case Solved Through Multi‐Omic Genomics
2026 · Teresa Zhao, Andrew P. Fennell, et al. · American Journal of Medical Genetics Part A
Lifesaving Diagnosis Through Prenatal Genomic Sequencing
2025 · Andrew P. Fennell, Tony Roscioli, et al. · Obstetrical & Gynecological Survey
Novel variant of TMEM231 in Meckel syndrome: a case report
2023 · Brigitte Papa, Andrew Fennell, et al. · Pathology
Works count: 28
Citation count: 629
H-index: 10
I10-index: 10
Year
Topic
Type