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Familial Cancer|February 14, 2015
Large genomic rearrangements in the familial breast and ovarian cancer gene BRCA1 are associated with an increased frequency of high risk featuresPaul A James, Sarah Sawyer, Samantha Boyle, et al.
American Journal of Human Genetics|February 5, 2026
Variant interpretation training for the genomics era: Learning outcomes to inform professional competencies and educationAmy Nisselle, Douglas Liddicoat, Corrina Cliffe, et al.
European Journal of Human Genetics : EJHG|October 14, 2024
Unrecognised actionability for breast cancer risk variants identified in a national-level review of Australian familial cancer centresCristina Fortuno, Elisa J Cops, Aimee L Davidson, et al.
American Journal of Human Genetics|October 2, 2024
Large-scale application of ClinGen-InSiGHT APC-specific ACMG/AMP variant classification criteria leads to substantial reduction in VUSXiaoyu Yin, Marcy Richardson, Andreas Laner, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 6, 2023
Gene-specific ACMG/AMP classification criteria for germline APC variants: Recommendations from the ClinGen InSiGHT Hereditary Colorectal Cancer/Polyposis Variant Curation Expert PanelIsabel Spier, Xiaoyu Yin, Marcy Richardson, et al.
Human Mutation|August 28, 2022
Mosaicism in tuberous sclerosis complex: Lowering the threshold for clinical reportingZimeng Ye, Sufang Lin, Xia Zhao, et al.
Medrxiv : the Preprint Server for Health Sciences|May 15, 2024
Systematic large-scale application of ClinGen InSiGHT <i>APC</i> -specific ACMG/AMP variant classification criteria substantially alleviates the burden of variants of uncertain significance in ClinVar and LOVD databasesXiaoyu Yin, Marcy Richardson, Andreas Laner, et al.
The Lancet. Oncology|August 9, 2016
Monogenic and polygenic determinants of sarcoma risk: an international genetic studyMandy L Ballinger, David L Goode, Isabelle Ray-Coquard, et al.
Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology|March 9, 2022
TRACEBACK: Testing of Historical Tubo-Ovarian Cancer Patients for Hereditary Risk Genes as a Cancer Prevention Strategy in Family MembersRachel Delahunty, Linh Nguyen, Stuart Craig, et al.
American Journal of Human Genetics|November 4, 2022
Shariant platform: Enabling evidence sharing across Australian clinical genetic-testing laboratories to support variant interpretationEmma Tudini, James Andrews, David M Lawrence, et al.
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