Georgina E. Hollway

384 Victoria St
Darlinghurst, NSW 2010, Australia

Last Updated: 09/26/2026

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Found 20 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

Whole genome sequencing in oesophageal adenocarcinoma unmasks potential precision therapies.

Whole genome sequencing in oesophageal adenocarcinoma unmasks potential precision therapies.

Journal: BMC cancer

Published: March 09, 2026

Integrating breast tumour homologous recombination deficiency status to aid germline BRCA1 and BRCA2 variant classification.

Integrating breast tumour homologous recombination deficiency status to aid germline BRCA1 and BRCA2 variant classification.

Journal: EBioMedicine

Published: June 28, 2025

Pathogenic variants in chromatin-related genes: Linking immune dysregulation to neuroregression and acute neuropsychiatric disorders.

Pathogenic variants in chromatin-related genes: Linking immune dysregulation to neuroregression and acute neuropsychiatric disorders.

Journal: Developmental medicine and child neurology

Published: October 17, 2024

Correction to: A Novel Case of IFNAR1 Deficiency Identified a Common Canonical Splice Site Variant in DOCK8 in Western Polynesia: The Importance of Validating Variants of Unknown Significance in Under-Represented Ancestries.

Correction to: A Novel Case of IFNAR1 Deficiency Identified a Common Canonical Splice Site Variant in DOCK8 in Western Polynesia: The Importance of Validating Variants of Unknown Significance in Under-Represented Ancestries.

Journal: Journal of clinical immunology

Published: September 19, 2024

A Novel Case of IFNAR1 Deficiency Identified a Common Canonical Splice Site Variant in DOCK8 in Western Polynesia: The Importance of Validating Variants of Unknown Significance in Under-Represented Ancestries.

A Novel Case of IFNAR1 Deficiency Identified a Common Canonical Splice Site Variant in DOCK8 in Western Polynesia: The Importance of Validating Variants of Unknown Significance in Under-Represented Ancestries.

Journal: Journal of clinical immunology

Published: March 21, 2024

Evaluation and pilot testing of a multidisciplinary model of care to mainstream genomic testing for paediatric inborn errors of immunity.

Evaluation and pilot testing of a multidisciplinary model of care to mainstream genomic testing for paediatric inborn errors of immunity.

Journal: European journal of human genetics : EJHG

Published: October 24, 2022

The Queensland IMplementation of PRecision Oncology in brEast cancer (Q-IMPROvE) pilot study.

The Queensland IMplementation of PRecision Oncology in brEast cancer (Q-IMPROvE) pilot study.

Journal: The Medical journal of Australia

Published: October 04, 2022

The clinical utility and costs of whole-genome sequencing to detect cancer susceptibility variants-a multi-site prospective cohort study.

The clinical utility and costs of whole-genome sequencing to detect cancer susceptibility variants-a multi-site prospective cohort study.

Journal: Genome medicine

Published: October 04, 2022

Shariant platform: Enabling evidence sharing across Australian clinical genetic-testing laboratories to support variant interpretation.

Shariant platform: Enabling evidence sharing across Australian clinical genetic-testing laboratories to support variant interpretation.

Journal: American journal of human genetics

Published: June 15, 2022

Early cost-utility analysis of genetically guided therapy for patients with drug-resistant epilepsy.

Early cost-utility analysis of genetically guided therapy for patients with drug-resistant epilepsy.

Journal: Epilepsia

Published: May 25, 2022

Analysis of hereditary cancer gene variant classifications from ClinVar indicates a need for regular reassessment of clinical assertions.

Analysis of hereditary cancer gene variant classifications from ClinVar indicates a need for regular reassessment of clinical assertions.

Journal: Human mutation

Published: January 27, 2022

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Last Updated: 09/26/2026