Andrew P. Fennell

Clayton, VIC, Australia

Last Updated: 09/26/2026

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Found 17 publications

Iterative genetic testing identifies SAMHD1 deficiency caused by a homozygous balanced translocation.

Iterative genetic testing identifies SAMHD1 deficiency caused by a homozygous balanced translocation.

Journal: Journal of human immunity

Published: March 13, 2026

Unraveling a Diagnostic Enigma: A TECPR2 Case Solved Through Multi-Omic Genomics.

Unraveling a Diagnostic Enigma: A TECPR2 Case Solved Through Multi-Omic Genomics.

Journal: American journal of medical genetics. Part A

Published: January 27, 2026

Lifesaving Diagnosis Through Prenatal Genomic Sequencing.

Lifesaving Diagnosis Through Prenatal Genomic Sequencing.

Journal: Obstetrical & gynecological survey

Published: October 30, 2025

Biallelic variants in RNU2-2 cause a remarkably frequent developmental and epileptic encephalopathy.

Biallelic variants in RNU2-2 cause a remarkably frequent developmental and epileptic encephalopathy.

Journal: Nature genetics

Published: September 02, 2025

From tradition to transformation: evolving models of care in clinical genetics.

From tradition to transformation: evolving models of care in clinical genetics.

Journal: Current opinion in pediatrics

Published: August 20, 2025

Lifesaving Diagnosis through Prenatal Genomic Sequencing.

Lifesaving Diagnosis through Prenatal Genomic Sequencing.

Journal: The New England journal of medicine

Published: July 02, 2025

Mutations in the Key Autophagy Tethering Factor EPG5 Link Neurodevelopmental and Neurodegenerative Disorders Including Early-Onset Parkinsonism.

Mutations in the Key Autophagy Tethering Factor EPG5 Link Neurodevelopmental and Neurodegenerative Disorders Including Early-Onset Parkinsonism.

Journal: Annals of neurology

Published: March 04, 2025

Seven Novel Variants of Weiss-Kruszka Syndrome and Phenotype Expansion.

Seven Novel Variants of Weiss-Kruszka Syndrome and Phenotype Expansion.

Journal: American journal of medical genetics. Part A

Published: June 06, 2024

Mainstreaming genomic testing: pre-test counselling and informed consent.

Mainstreaming genomic testing: pre-test counselling and informed consent.

Journal: The Medical journal of Australia

Published: October 16, 2023

Experience of the first adult-focussed undiagnosed disease program in Australia (AHA-UDP): solving rare and puzzling genetic disorders is ageless.

Experience of the first adult-focussed undiagnosed disease program in Australia (AHA-UDP): solving rare and puzzling genetic disorders is ageless.

Journal: Orphanet journal of rare diseases

Published: August 09, 2023

Narrowing the diagnostic gap: Genomes, episignatures, long-read sequencing, and health economic analyses in an exome-negative intellectual disability cohort.

Narrowing the diagnostic gap: Genomes, episignatures, long-read sequencing, and health economic analyses in an exome-negative intellectual disability cohort.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: June 30, 2023

Elusive variants in autosomal recessive disease: how can we improve timely diagnosis?

Elusive variants in autosomal recessive disease: how can we improve timely diagnosis?

Journal: European journal of human genetics : EJHG

Published: January 05, 2023

Showing 1-12 of 17

Last Updated: 09/26/2026