Author

Huei San Leong

Peter MacCallum Cancer Centre

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

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Genetic & Genomic Medicine· 2

Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:statistical model· 2 Research Focus:database / resource· 1 Assay:DNA methylation· 1 Research Focus:variant effect prediction· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Amanda B. SpurdleiD· 2 shared Arjen R. MensenkampiD· 2 shared Bryony A. ThompsoniD· 2 shared Rachid KaramiD· 2 shared Tina F. PesaraniD· 2 shared Alexandra MartinsiD· 1 shared Álvaro N.A. MonteiroiD· 1 shared Amanda Ewart TolandiD· 1 shared

Activity by Year

2021-2024 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 41 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Amanda B. SpurdleORCID

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2 papers

Recent·Most cited

Genetic & Genomic MedicineThe American Journal of Human GeneticsPeer-reviewedAug 13, 2024

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

Michael T. Parsons, Miguel de la Hoya, Marcy E. Richardson…·Amanda B. Spurdle

The paper refines ACMG/AMP variant classification criteria for BRCA1 and BRCA2 by calibrating evidence strength and improving classification consistency through expert panel review.

104 citationstop 1%

humanDNA methylation

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Genetic & Genomic MedicinemedRxivPreprintNov 1, 2021

ClinGen CDH1 specifications for the ACMG/AMP guidelines: improvement of germline variant clinical assertions and updated curation guidelines

Xi Luo, Jamie L. Maciaszek, Bryony A. Thompson…·Rachid Karam

The paper updates CDH1 variant curation guidelines to resolve conflicting interpretations and reduce variants of uncertain significance for clinical use.

DOI 10.1101/2021.11.01.21265332

humanstatistical model

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