AF
Andrew Paul Fennell
Monash Health
Research areas: Biochemistry, Genetics and Molecular Biology · Genetics · Genomics and Rare Diseases · Metabolism and Genetic Disorders · Connective tissue disorders research
0000-0001-6744-1810
Employment
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Monash Health Head of Clinical Genetics2024 - Present
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Monash Health Consultant Clinical Geneticist2018 - Present
Education
Education history is unavailable.
Projects & Funding
Projects & funding information is unavailable.
Publications (20)
- Iterative genetic testing identifies SAMHD1 deficiency caused by a homozygous balanced translocation Save
- Unraveling a Diagnostic Enigma: A TECPR2 Case Solved Through Multi‐Omic Genomics Save
- Mutations in the Key Autophagy Tethering Factor EPG5 Link Neurodevelopmental and Neurodegenerative Disorders Including Early‐Onset Parkinsonism Save
- Lifesaving Diagnosis through Prenatal Genomic Sequencing Save
- Evaluating the Clinical Utility of Genomic Sequencing After Perinatal Death Save
- From tradition to transformation: Evolving models of care in clinical genetics Save
- Seven Novel Variants of Weiss-Kruszka Syndrome and Phenotype Expansion Save
- Mainstreaming genomic testing: pre‐test counselling and informed consent Save
- Narrowing the diagnostic gap: Genomes, episignatures, long-read sequencing, and health economic analyses in an exome-negative intellectual disability cohort. Save
- Author Correction: Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death (Nature Medicine, (2023), 29, 1, (180-189), 10.1038/s41591-022-02142-1) Save
- Experience of the first adult-focussed undiagnosed disease program in Australia (AHA-UDP): solving rare and puzzling genetic disorders is ageless Save
- Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death Save
- Elusive variants in autosomal recessive disease: how can we improve timely diagnosis? Save
- Experience of the first adult-focussed undiagnosed disease program in Australia (AHA-UDP): Solving rare and puzzling genetic disorders is ageless. Save
- Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants Save
- The diverse pleiotropic effects of spliceosomal protein PUF60: A case series of Verheij syndrome Save
- Rapid exome sequencing and adjunct RNA studies confirm the pathogenicity of a novel homozygous ASNS splicing variant in a critically ill neonate Save
- Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System Save
- 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 Save
- Feasibility of ultra-rapid exome sequencing in critically ill infants and children with suspected monogenic conditions in the australian public health care system Save