Ingrid Winship

Synopsis of an integrated guidance for enhancing the care of familial hypercholesterolaemia: an Australian perspective

Gerald F Watts, David R Sullivan, David L Hare, Karam M Kostner, Ari E Horton, Damon A Bell, Tom Brett, Ronald J Trent, Nicola K Poplawski, Andrew C Martin, Shubha Srinivasan, Robert N Justo, Clara K Chow, Jing Pang, Zanfina Ademi, Justin J Ardill, Wendy Barnett, Timothy R Bates, Lawrence J Beilin, Warrick Bishop, et al.

Journal article  |  2021  |  American Journal of Preventive Cardiology

Genetic testing in dementia-A medical genetics perspective.

Aamira J Huq, Adrienne Sexton, Paul Lacaze, Colin L Masters, Elsdon Storey, Dennis Velakoulis, Paul A James, Ingrid M Winship

Journal article  |  2021  |  International Journal of Geriatric Psychiatry

OBJECTIVE: When a genetic cause is suspected in a person with dementia, it creates unique diagnostic and management challenges to ..

Prospective Evaluation of the Addition of Polygenic Risk Scores to Breast Cancer Risk Models

Sherly X Li, Roger L Milne, Tu Nguyen-Dumont, Xiaochuan Wang, Dallas R English, Graham G Giles, Melissa C Southey, Antonis C Antoniou, Andrew Lee, Shuai Li, Ingrid Winship, John L Hopper, Mary Beth Terry, Robert J MacInnis

Journal article  |  2021  |  JNCI Cancer Spectrum

Abstract Background The BOADICEA and IBIS breast cancer risk models are used t..

Germline and Tumor Sequencing as a Diagnostic Tool To Resolve Suspected Lynch Syndrome.

Bernard J Pope, Mark Clendenning, Christophe Rosty, Khalid Mahmood, Peter Georgeson, Jihoon E Joo, Romy Walker, Ryan A Hutchinson, Harindra Jayasekara, Sharelle Joseland, Julia Como, Susan Preston, Amanda B Spurdle, Finlay A Macrae, Aung K Win, John L Hopper, Mark A Jenkins, Ingrid M Winship, Daniel D Buchanan

Journal article  |  2021  |  Journal of Molecular Diagnostics

Patients in whom mismatch repair (MMR)-deficient cancer develops in the absence of pathogenic variants of germline MMR genes or so..

Integrated Guidance for Enhancing the Care of Familial Hypercholesterolaemia in Australia

Gerald F Watts, David R Sullivan, David L Hare, Karam M Kostner, Ari E Horton, Damon A Bell, Tom Brett, Ronald J Trent, Nicola K Poplawski, Andrew C Martin, Shubha Srinivasan, Robert N Justo, Clara K Chow, Jing Pang

Journal article  |  2021  |  Heart Lung and Circulation

Familial hypercholesterolaemia (FH) is a dominant and highly penetrant monogenic disorder present from birth that markedly elevate..

Monitoring the genetic testing and life insurance moratorium in Australia: a national research project

Jane Tiller, Ingrid Winship, Margaret FA Otlowski, Paul A Lacaze

Journal article  |  2021  |  The Medical Journal of Australia

Mainstreaming genomics: training experience of hospital medical officers at the Royal Melbourne Hospital

Aamira J Huq, Lachlan Healy, Alexandra Gorelik, Laura E Forrest, Ingrid M Winship

Journal article  |  2021  |  Internal Medicine Journal

The rapid evolution and wide applicability of genomic testing means that medical practitioners outside the field are not appropria..

The Management of Peutz-Jeghers Syndrome: European Hereditary Tumour Group (EHTG) Guideline

Anja Wagner, Stefan Aretz, Annika Auranen, Marco J Bruno, Giulia M Cavestro, Emma J Crosbie, Anne Goverde, Anne Marie Jelsig, Andrew R Latchford, Monique E van Leerdam, Anna H Lepisto, Marta Puzzono, Ingrid Winship, Veronica Zuber, Gabriela Moslein

Journal article  |  2021  |  Journal of Clinical Medicine

The scientific data to guide the management of Peutz-Jeghers syndrome (PJS) are sparse. The available evidence has been reviewed a..

CYP3A7*1C allele: linking premenopausal oestrone and progesterone levels with risk of hormone receptor-positive breast cancers

Nichola Johnson, Sarah Maguire, Anna Morra, Pooja Middha Kapoor, Katarzyna Tomczyk, Michael E Jones, Minouk J Schoemaker, Clare Gilham, Manjeet K Bolla, Qin Wang, Joe Dennis, Thomas U Ahearn, Irene L Andrulis, Hoda Anton-Culver, Natalia N Antonenkova, Volker Arndt, Kristan J Aronson, Annelie Augustinsson, Caroline Baynes, Laura E Beane Freeman, et al.

Journal article  |  2021  |  British Journal of Cancer

BACKGROUND: Epidemiological studies provide strong evidence for a role of endogenous sex hormones in the aetiology of breast cance..

Evaluating the utility of tumour mutational signatures for identifying hereditary colorectal cancer and polyposis syndrome carriers.

Peter Georgeson, Bernard J Pope, Christophe Rosty, Mark Clendenning, Khalid Mahmood, Jihoon E Joo, Romy Walker, Ryan A Hutchinson, Susan Preston, Julia Como, Sharelle Joseland, Aung Ko Win, Finlay A Macrae, John L Hopper, Dmitri Mouradov, Peter Gibbs, Oliver M Sieber, Dylan E O'Sullivan, Darren R Brenner, Steve Gallinger, et al.

Journal article  |  2021  |  Gut

OBJECTIVE: Germline pathogenic variants (PVs) in the DNA mismatch repair (MMR) genes and in the base excision repair gene MUTYH un..