Publications
86
Citations
4,193
Est. group size
—
Recurring co-author estimate
Active years
33
Publishing since 1992
Typically publishes in teams of ~17 · 0% small-team papers (≤3 authors) · across 9 venues
- Narrowing the diagnostic gap: Genomes, episignatures, long-read sequencing, and health economic analyses in an exome-negative intellectual disability cohort
Genetics in Medicine · 2024
- Making good on the promise of genomics in healthcare: the NSW Health perspective
Australian Health Review · 2023
- Shariant platform: Enabling evidence sharing across Australian clinical genetic-testing laboratories to support variant interpretation
The American Journal of Human Genetics · 2022
- Optical genome mapping using Bionano: A comparative study of genomic changes in haematological malignancies performed at the John Hunter hospital
Pathology · 2022
- Correction: When is a mutation not a mutation: the case of the c.594-2A>C splice variant in a woman harbouring another BRCA1 mutation in trans
Hereditary Cancer in Clinical Practice · 2022
- Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants
Genetics in Medicine · 2021
- A Pathway to Precision Medicine for Aboriginal Australians: A Study Protocol
Methods and Protocols · 2021
- A pathway to precision medicine for Aboriginal Australians: a study protocol
Molecular Genetics and Metabolism · 2021
- Equitable Expanded Carrier Screening Needs Indigenous Clinical and Population Genomic Data
The American Journal of Human Genetics · 2020
- Blood‐based detection of <i><scp>RAS</scp></i> mutations to guide anti‐<scp>EGFR</scp> therapy in colorectal cancer patients: concordance of results from circulating tumor <scp>DNA</scp> and tissue‐based <i><scp>RAS</scp></i> testing
Molecular Oncology · 2017
- Meeting abstracts from the Annual Conference on Hereditary Cancers 2015
Hereditary Cancer in Clinical Practice · 2017
- Somatic‐gonadal mosaicism causing Sotos syndrome
American Journal of Medical Genetics Part A · 2016
- When is a mutation not a mutation: the case of the c.594-2A>C splice variant in a woman harbouring another BRCA1 mutation in trans
Hereditary Cancer in Clinical Practice · 2016
- Hereditary Cancer in Clinical Practice×3
- Genetics in Medicine×2
- The American Journal of Human Genetics×2
- Molecular Oncology×1
- CHEST Journal×1
- Erika Koeppe
Medicine · University of Michigan
- Elena M. Stoffel
Medicine · University of Michigan
- Heather Hampel
Medicine · The Ohio State University
- Rachel Pearlman
Medicine · The Ohio State University
- Maegan E. Roberts
Medicine · The Ohio State University
This profile was generated automatically from public scholarly data (OpenAlex). Group size and activity levels are estimates derived from co-authorship patterns.
Last updated Jul 25, 2026.
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