Andrew Dubowsky

Adelaide, SA, Australia

Last Updated: 09/26/2026

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Found 27 publications

ClinGen Glaucoma Variant Curation Expert Panel recommendations enhance classification of myocilin variants.

ClinGen Glaucoma Variant Curation Expert Panel recommendations enhance classification of myocilin variants.

Journal: medRxiv : the preprint server for health sciences

Published: August 20, 2026

Non-coding structural variants disrupting conserved PITX2 enhancer loci in Axenfeld-Rieger syndrome.

Non-coding structural variants disrupting conserved PITX2 enhancer loci in Axenfeld-Rieger syndrome.

Journal: European journal of human genetics : EJHG

Published: July 02, 2025

Axenfeld-Rieger syndrome associated with a megabase-scale inversion separating PITX2 from a conserved enhancer locus.

Axenfeld-Rieger syndrome associated with a megabase-scale inversion separating PITX2 from a conserved enhancer locus.

Journal: medRxiv : the preprint server for health sciences

Published: June 12, 2025

Unrecognised actionability for breast cancer risk variants identified in a national-level review of Australian familial cancer centres.

Unrecognised actionability for breast cancer risk variants identified in a national-level review of Australian familial cancer centres.

Journal: European journal of human genetics : EJHG

Published: May 01, 2024

Clinical, histological and receptor profiles of invasive breast cancer and ductal carcinoma in situ in females with germline pathogenic variants in PTEN and implications for germline testing.

Clinical, histological and receptor profiles of invasive breast cancer and ductal carcinoma in situ in females with germline pathogenic variants in PTEN and implications for germline testing.

Journal: Pathology

Published: April 06, 2024

Pathologists' integration of prior biopsies of women with germline PTEN mutations may expedite the identification of this rare cancer predisposition syndrome.

Pathologists' integration of prior biopsies of women with germline PTEN mutations may expedite the identification of this rare cancer predisposition syndrome.

Journal: Pathology

Published: April 05, 2024

Identification of monogenic diabetes in an Australian cohort using the Exeter maturity-onset diabetes of the young (MODY) probability calculator and next-generation sequencing gene panel testing.

Identification of monogenic diabetes in an Australian cohort using the Exeter maturity-onset diabetes of the young (MODY) probability calculator and next-generation sequencing gene panel testing.

Journal: Acta diabetologica

Published: July 10, 2023

Diagnostic yield of candidate genes in an Australian corneal dystrophy cohort.

Diagnostic yield of candidate genes in an Australian corneal dystrophy cohort.

Journal: Molecular genetics & genomic medicine

Published: July 15, 2022

Specifications of the ACMG/AMP variant curation guidelines for myocilin: Recommendations from the clingen glaucoma expert panel.

Specifications of the ACMG/AMP variant curation guidelines for myocilin: Recommendations from the clingen glaucoma expert panel.

Journal: Human mutation

Published: June 27, 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

Introme accurately predicts the impact of coding and noncoding variants on gene splicing, with clinical applications.

Introme accurately predicts the impact of coding and noncoding variants on gene splicing, with clinical applications.

Journal: Genome biology

Published: March 30, 2022

RNF43 pathogenic Germline variant in a family with colorectal cancer.

RNF43 pathogenic Germline variant in a family with colorectal cancer.

Journal: Clinical genetics

Published: July 09, 2021

Showing 1-12 of 27

Last Updated: 09/26/2026