Johanna Hadler

Brisbane, QLD, Australia

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 10 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

Analysis of BRCA1, BRCA2 and PALB2 related Fanconi anemia identifies scope to expand disease phenotypic features and predict breast cancer risk in heterozygotes.

Analysis of BRCA1, BRCA2 and PALB2 related Fanconi anemia identifies scope to expand disease phenotypic features and predict breast cancer risk in heterozygotes.

Journal: medRxiv : the preprint server for health sciences

Published: June 26, 2025

BRCA1-, BRCA2-, and PALB2-related Fanconi anemia: Scope to expand disease phenotypic features and predict breast cancer risk in heterozygotes.

BRCA1-, BRCA2-, and PALB2-related Fanconi anemia: Scope to expand disease phenotypic features and predict breast cancer risk in heterozygotes.

Journal: American journal of human genetics

Published: May 15, 2025

BRCA1 and BRCA2 pathogenic variants increase the risk of four less common cancer types.

BRCA1 and BRCA2 pathogenic variants increase the risk of four less common cancer types.

Journal: ESMO open

Published: April 09, 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

Evidence-based recommendations for gene-specific ACMG/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel.

Evidence-based recommendations for gene-specific ACMG/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel.

Journal: American journal of human genetics

Published: January 19, 2024

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

Resequencing and fine-mapping of the chromosome 12q13-14 locus associated with multiple sclerosis refines the number of implicated genes.

Resequencing and fine-mapping of the chromosome 12q13-14 locus associated with multiple sclerosis refines the number of implicated genes.

Journal: Human molecular genetics

Published: February 15, 2013

Showing 1-10 of 10

Last Updated: 09/26/2026