Get started
Author

Samantha Sundercombe

Observed names: S Sundercombe, S. Sundercombe, Samantha L Sundercombe, Samantha L. Sundercombe, Samantha Leigh Sundercombe
Observed institutions: The University of Sydney, Children's Hospital at Westmead, Westmead Hospital, Prince of Wales Hospital, Douglass Hanly Moir Pathology, International Society for Quality in Health Care, Sydney Children's Hospital, Sydney Children’s Hospitals Network, Murdoch Children's Research Institute, NSW Health Pathology, Neuroscience Research Australia
ORCID: 0000-0001-7174-0960
Observed ORCID: 0000-0001-7174-0960
OpenAlex ID: A5068230093
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 · 102
Nationwide, Couple-Based Genetic Carrier Screening
2024 · Edwin P. Kirk, Martin B. Delatycki, et al. · New England Journal of Medicine · 84
PDF
Audit of a clinical guideline for neonatal hypoglycaemia screening
2013 · Samantha L Sundercombe, Camille H Raynes‐Greenow, et al. · Journal of Paediatrics and Child Health · 16
PDF
Clinically Responsive Genomic Analysis Pipelines
2021 · Samantha Leigh Sundercombe, Marina Berbic, et al. · Journal of Molecular Diagnostics · 12
Do neonatal hypoglycaemia guidelines in Australia and New Zealand facilitate breast feeding?
2014 · Samantha L. Sundercombe, Camille H. Raynes-Greenow, et al. · Midwifery · 11
Concurrent maternal malignancy and fetal trisomy detected using genome‐wide noninvasive prenatal screening
2021 · Fergus Scott, Maria‐Elisabeth Smet, et al. · Prenatal Diagnosis · 5
Laboratory Considerations for Reproductive Genetic Carrier Screening
2026 · Corrina C. Cliffe, Richard J.N. Allcock, et al. · Journal of Molecular Diagnostics
Non-invasive prenatal screening in practice: an audit of clinical management in high-probability cases
2026 · Shannon B. Fadaee, Jessica M. Clarke, et al. · Pathology
Processed pseudogenes and the potential impact on genomic analysis
2026 · Chloe La Spina, Corrina Cliffe, et al. · Pathology
Nationwide, Couple-Based Genetic Carrier Screening
2025 · E. P. Kirk, M. B. Delatycki, et al. · Obstetrical & Gynecological Survey
Nationwide, Couple-Based Genetic Carrier Screening
2025 · EP Kirk, MB Delatycki, et al. · Obstetric Anesthesia Digest
Delivering high throughput urgent exome sequencing at a diagnostic laboratory
2022 · Samantha Sundercombe, Corrina Cliffe, et al. · Pathology
PIGV P.L472p mutation identified by exome sequencing in a neonate with a glycosylation disorder confirmed by flow cytometry
2022 · Samantha Sundercombe, Rebecca Walsh, et al. · Pathology
An Atypical Case OF Early Neuronal Ceroid Lipofuscinosis Caused by A Previously Undocumented DNAJC5 Nonsense Mutation
2019 · S. Sundercombe, T. Roscioli, et al. · Pathology
Works count: 14
Citation count: 230
H-index: 5
I10-index: 5
Year
Topic
Type