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Prof

Ingrid Winship

Chair In Adult Clinical Genetics
Medicine - Royal Melbourne Hospital
Heritable diseases
Familial cancer
Genodermatoses
science & technology
life sciences & biomedicine
humans
female
male
adult
Ingrid Winship's Profile Picture
Prof

Ingrid Winship

 
Division
Medicine, Dentistry And Health Sciences
 
Primary Interest
Clinical genetics
Ingrid Winship's Profile Picture
Prof

Ingrid Winship

 

Ingrid Winship is a clinician scientist and is the Inaugural Chair of Adult Clinical Genetics at the University of Melbourne and The Royal Melbourne Hospital. Her career has combined clinical practice, biomedical research and the translation of research into practice and policy.

While she works across many domains within clinical genetics, her research interests have been focused on colorectal cancer, and in particular the potential for cancer prevention. She has used the knowledge generated by her and other’s research to optimise and implement state of the art clinical genetic services in adult medicine, with a focus on familial cancer and cancer prevention. She is an expert in heritable skin disorders. As Melbourne Health’s Executive Director of Research (2006-2018) she facilitated the embedding of research into clinical practice in this large academic teaching hospital and established the Clinical Trials Centre on the city campus. She is a practicing clinician, providing academic and clinical leadership in the inherited cancer clinics. She served on a number of high level committees within Australia, and internationally; she is currently a Director of the Boards of the Australian Genome Research Facility and Global Variome. She is Chair of the Australian Health Ethics Committee and a member of the NHMRC Council. In June 2020, Professor Winship was appointed Officer of the Order of Australia for "distinguished service to medicine, particularly to clinical genetics and research, to cancer prevention, and as a role model and mentor."

Projects

Displaying the 22 most recent projects by Ingrid Winship.

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Script: An Rct Of Genomic-Based Stratified Colorectal Cancer Screening In Primary Care.

2020 - 2023
Active
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Why Does Colonoscopy Fail To Prevent Colon Cancer In People With Lynch Syndrome?

2020 - 2022
Active
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Heritable Methylation Marks Associated With Colorectal Cancer Risk

2019 - 2020
Active
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A Patient-Centric Measure-Model-Manufacture-Manage (4m) Platform For Personalised Implant Innovation

2018 - 2020
Completed
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Taking Breast Cancer Risk Prediction To The Next Level And Making It Accessible.

Women vary enormously in their risk of breast cancer, but screening and prevention programs in Australia and across the world have largely i..

2018 - 2021
Active
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Taking Breast Cancer Risk Prediction To The Next Level And Making It Accessible.

Women vary enormously in their risk of breast cancer, but screening and prevention programs in Australia and across the world have largely i..

2018 - 2021
Active
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Clinical Utility And Cost-Effectivenmess Of Genome Sequencing For Refractory Epilepsy In Children And Adults: A Multicentre Randomised Controlled Trial

A large number of genomic variants have been found to underpin common types of epilepsy and to predict adverse drug reactions. However, the ..

2018 - 2021
Active
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The Crisp Trial: An Rct Of Risk Assessment And Decision Support To Implement Risk-Stratified Colorectal Cancer Screening In Primary Care.

There is a mismatch between people’s use of bowel cancer screening tests through faecal occult blood testing or colonoscopy and their indivi..

2017 - 2020
Active
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Muir Torre Syndrome: The Role Of Ihc And Genotyping In Sebaceous Neoplasia To Facilitate Prevention Strategies In Colorectal And Endometrial Cancer

Sebaceous neoplasia (SN), may be an early warning sign for Lynch syndrome (LS), an inherited cancer predisposition caused by mutations in a ..

2017 - 2019
Completed
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Expanding Diagnostic Approaches For Lynch Syndrome

Currently, there are ~1,000 families who have attended Family Cancer Clinics across Australia who have the hallmarks of having Lynch syndrom..

2017 - 2019
Completed
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Muir Torre Syndrome: The Role Of Ihc And Genotyping In Sebaceous Neoplasia To Facilitate Prevention Strategies In Colorectal And Endometrial Cancer

Sebaceous neoplasia (SN), may be an early warning sign for Lynch syndrome (LS), an inherited cancer predisposition caused by mutations in a ..

2017 - 2019
Completed
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Selecting The Best Cancer Risk Prediction Models

Risk prediction models incorporating multiple risk factors (including genetic markers) are a recognised method to identify individuals at hi..

2017 - 2019
Completed
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What Is The Risk Of Cancer For Mutation Carriers?

People with the genetic Lynch syndrome are more likely to get cancer but we cannot accurately predict who will get cancer and when. Doctors ..

2014 - 2016
Completed
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How Effective Is Bowel Cancer Screening And Who Uses It?

About 14,000 cases of bowel cancer occur annually in Australia despite the availability of life-saving screening. Most people do not receive..

2014 - 2016
Completed
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High Risk Genes For Lobular Breast Cancer

This Small Business Innovation Research (SBIR) Phase I project aims to develop an innovative Raman-based real-time microalgal biofuel analyz..

2013 - 2016
Completed
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Translation Of Information About The Gene Palb2 Into Breast Cancer Clinical Genetic Services

Today in Australia women attending clinical genetics services and receiving genetic counselling due to a personal and/or family history of b..

2012 - 2014
Completed
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What Matters To Women Diagnosed With Breast Cancer During Their Reproductive Years

Breast cancer in women of reproductive age is especially challenging because fertility can be reduced, pregnancy discouraged, and family for..

2011 - 2011
Completed
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What Matters To Women Diagnosed With Breast Cancer During Their Reproductive Years? A Qualitative Investigation Of Fertility, Reproductive Health, Heritability, And Related Psychosocial Needs Using A Population-Based Sample

Breast cancer in women of reproductive age is especially challenging because fertility can be reduced, pregnancy discouraged, and family for..

2011 - 2012
Completed
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Breast Cancer And Fertility: Contributing To General Practitioners; Management And Support Of Their Patients

2009 - 2010
Completed
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Translational Research To Better Use Genetic Testing To Reduce The Morbidity And Mortality Of Breast Cancer In Victoria

2009 - 2013
Completed
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Translational Research To Better Use Genetic Testing To Reduce The Morbidity And Mortality Of Breast Cancer In Victoria

2009 - 2013
Completed
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Studies Into Gynaecological Cancers Associated With The Syndrome: Hereditary Nonpolyposis Colon Cancer

2007 - 2009
Completed

22

Projects

Project Types

22

Research Grant

Scholarly Works

Displaying the 264 most recent scholarly works by Ingrid Winship.

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A Genomic Test for Colorectal Cancer Risk: Is This Acceptable and Feasible in Primary Care?

Sibel Saya, Jennifer G McIntosh, Ingrid M Winship, Mark Clendenning, Shakira Milton, Jasmeen Oberoi, James G Dowty, Daniel D Buchanan, Mark A Jenkins, Jon D Emery

Journal article  |  2020  |  Public Health Genomics

INTRODUCTION: Genomic tests can predict risk and tailor screening recommendations for colorectal cancer (CRC). Primary care could ..

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Correction: Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database.

Mev Dominguez-Valentin, Julian R Sampson, Toni T Seppälä, Sanne W Ten Broeke, John-Paul Plazzer, Sigve Nakken, Christoph Engel, Stefan Aretz, Mark A Jenkins, Lone Sunde, Inge Bernstein, Gabriel Capella, Francesc Balaguer, Huw Thomas, D Gareth Evans, John Burn, Marc Greenblatt, Eivind Hovig, Wouter H de Vos Tot Nederveen Cappel, Rolf H Sijmons, et al.

Journal article  |  2020  |  Genetics in Medicine

An amendment to this paper has been published and can be accessed via a link at the top of the paper.

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Risk-Reducing Gynecological Surgery in Lynch Syndrome: Results of an International Survey from the Prospective Lynch Syndrome Database.

Mev Dominguez-Valentin, Toni T Seppälä, Christoph Engel, Stefan Aretz, Finlay Macrae, Ingrid Winship, Gabriel Capella, Huw Thomas, Eivind Hovig, Maartje Nielsen, Rolf H Sijmons, Lucio Bertario, Bernardo Bonanni, Maria Grazia Tibiletti, Giulia Martina Cavestro, Miriam Mints, Nathan Gluck, Lior Katz, Karl Heinimann, Carlos A Vaccaro, et al.

Journal article  |  2020  |  Journal of Clinical Medicine

PURPOSE: To survey risk-reducing hysterectomy and bilateral salpingo-oophorectomy (BSO) practice and advice regarding hormone repl..

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Medically actionable pathogenic variants in a population of 13,131 healthy elderly individuals

Paul Lacaze, Robert Sebra, Moeen Riaz, Jane Tiller, Jerico Revote, James Phung, Emily J Parker, Suzanne G Orchard, Jessica E Lockery, Rory Wolfe, Maya Strahl, Ying C Wang, Rong Chen, Daniel Sisco, Todd Arnold, Bryony A Thompson, Daniel D Buchanan, Finlay A Macrae, Paul A James, Walter P Abhayaratna, et al.

Journal article  |  2020  |  Genetics in Medicine

PURPOSE: To measure the prevalence of medically actionable pathogenic variants (PVs) among a population of healthy elderly individ..

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Phenotypic discordance between siblings with junctional epidermolysis bullosa-pyloric atresia

KP Verma, SJ Robertson, IM Winship

Journal article  |  2020  |  Clinical and Experimental Dermatology

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Mismatch repair gene pathogenic germline variants in a population-based cohort of breast cancer

Tu Nguyen-Dumont, Jason A Steen, Ingrid Winship, Daniel J Park, Bernard J Pope, Fleur Hammet, Maryam Mahmoodi, Helen Tsimiklis, Derrick Theys, Mark Clendenning, Graham G Giles, John L Hopper, Melissa C Southey

Journal article  |  2020  |  Familial Cancer

The advent of gene panel testing is challenging the previous practice of using clinically defined cancer family syndromes to infor..

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Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes

Laura Fachal, Hugues Aschard, Jonathan Beesley, Daniel R Barnes, Jamie Allen, Siddhartha Kar, Karen A Pooley, Joe Dennis, Kyriaki Michailidou, Constance Turman, Penny Soucy, Audrey Lemacon, Michael Lush, Jonathan P Tyrer, Maya Ghoussaini, Mahdi Moradi Marjaneh, Xia Jiang, Simona Agata, Kristiina Aittomaki, M Rosario Alonso, et al.

Journal article  |  2020  |  Nature Genetics

Genome-wide association studies have identified breast cancer risk variants in over 150 genomic regions, but the mechanisms underl..

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Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database

Mev Dominguez-Valentin, Julian R Sampson, Toni T Seppala, Sanne W ten Broeke, John-Paul Plazzer, Sigve Nakken, Christoph Engel, Stefan Aretz, Mark A Jenkins, Lone Sunde, Inge Bernstein, Gabriel Capella, Francesc Balaguer, Huw Thomas, D Gareth Evans, John Burn, Marc Greenblatt, Eivind Hovig, Wouter H de Vos Tot Nederveen Cappel, Rolf H Sijmons, et al.

Journal article  |  2020  |  GENETICS IN MEDICINE

PURPOSE: Pathogenic variants affecting MLH1, MSH2, MSH6, and PMS2 cause Lynch syndrome and result in different but imprecisely kno..

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Cost-effectiveness of population genomic screening Response

Paul Lacaze, Jane Tiller, Yining Bao, Moeen Riaz, Ingrid Winship, Lei Zhang

Journal article  |  2019  |  Genetics in Medicine

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Genetic resilience to Alzheimer's disease in APOE epsilon 4 homozygotes: A systematic review

Aamira J Huq, Peter Fransquet, Simon M Laws, Joanne Ryan, Robert Sebra, Colin L Masters, Ingrid M Winship, Paul A James, Paul Lacaze

Journal article  |  2019  |  Alzheimer's & Dementia

INTRODUCTION: Individuals with homozygosity for the apolipoprotein E (APOE) ε4 allele are in the highest risk category for late-on..

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Healthcare System-Funded Preventive Genomic Screening: Challenges for Australia and Other Single-Payer Systems

Paul Lacaze, Jane Tiller, Ingrid Winship

Journal article  |  2019  |  Public Health Genomics

The prospect of healthcare systems offering population-based preventive genomic testing to all adults is becoming feasible. Some s..

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An alternative approach to establishing unbiased colorectal cancer risk estimation in Lynch syndrome

Manon Suerink, Mar Rodriguez-Girondo, Heleen M van der Klift, Chrystelle Colas, Laurence Brugieres, Noemie Lavoine, Marjolijn Jongmans, Gabriel Capella Munar, D Gareth Evans, Michael P Farrell, Maurizio Genuardi, Yael Goldberg, Encarna Gomez-Garcia, Karl Heinimann, Jessica Hoell, Stefan Aretz, Kory W Jasperson, Inbal Kedar, Mitul B Modi, Sergey Nikolaev, et al.

Journal article  |  2019  |  Genetics in Medicine

PURPOSE: Biallelic pathogenic variants in the mismatch repair (MMR) genes cause a recessive childhood cancer predisposition syndro..

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Development and validation of a targeted gene sequencing panel for application to disparate cancers

Mark J McCabe, Marie-Emilie A Gauthier, Chia-Ling Chan, Tanya J Thompson, Sunita MC De Sousa, Clare Puttick, John P Grady, Velimir Gayevskiy, Jiang Tao, Kevin Ying, Arcadi Cipponi, Niantao Deng, Alex Swarbrick, Melissa L Thomas, undefined kConFab, Reginald V Lord, Amber L Johns, Maija Kohonen-Corish, Sandra A O'Toole, Jonathan Clark, et al.

Journal article  |  2019  |  Scientific Reports

Next generation sequencing has revolutionised genomic studies of cancer, having facilitated the development of precision oncology ..

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Type 2 diabetes mellitus, blood cholesterol, triglyceride and colorectal cancer risk in Lynch syndrome

S Ghazaleh Dashti, Wing Yan Li, Daniel D Buchanan, Mark Clendenning, Christophe Rosty, Ingrid M Winship, Finlay A Macrae, Graham G Giles, Sheetal Hardikar, Xinwei Hua, Stephen N Thibodeau, Jane C Figueiredo, Graham Casey, Robert W Haile, Steven Gallinger, Loic Le Marchand, Polly A Newcomb, John D Potter, Noralane M Lindor, John L Hopper, et al.

Journal article  |  2019  |  BRITISH JOURNAL OF CANCER

BACKGROUND: Type 2 diabetes mellitus and high total cholesterol and triglycerides are known to be associated with increased colore..

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Warfarin ineffective as symptomatic therapy for erythropoietic protoporphyria

Brent J Doolan, Mi Vu, George A Varigos, Chris Hogan, Gayle Ross, Siddharth Sood, Ingrid Winship

Journal article  |  2019  |  Australasian Journal of Dermatology

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The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer

Gisella Figlioli, Massimo Bogliolo, Irene Catucci, Laura Caleca, Sandra Viz Lasheras, Roser Pujol, Johanna Kiiski, Taru A Muranen, Daniel R Barnes, Joe Dennis, Kyriaki Michailidou, Manjeet K Bolla, Goska Leslie, Cora M Aalfs, Muriel A Adank, Julian Adlard, Simona Agata, Karen Cadoo, Bjarni A Agnarsson, Thomas Ahearn, et al.

Journal article  |  2019  |  npj Breast Cancer

Breast cancer is a common disease partially caused by genetic risk factors. Germline pathogenic variants in DNA repair genes BRCA1..

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Survival by colon cancer stage and screening interval in Lynch syndrome: a prospective Lynch syndrome database report

Mev Dominguez-Valentin, Toni T Seppala, Julian R Sampson, Finlay Macrae, Ingrid Winship, D Gareth Evans, Rodney J Scott, John Burn, Gabriela Moeslein, Inge Bernstein, Kirsi Pylvanainen, Laura Renkonen-Sinisalo, Anna Lepistoe, Annika Lindblom, John-Paul Plazzer, Douglas Tjandra, Huw Thomas, Kate Green, Fiona Lalloo, Emma J Crosbie, et al.

Journal article  |  2019  |  Hereditary Cancer in Clinical Practice

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Living with Hereditary Haemorrhagic Telangiectasia: stigma, coping with unpredictable symptoms, and self-advocacy

Adrienne Sexton, Bridget Gargan, Jessica Taylor, Michael Bogwitz, Ingrid Winship

Journal article  |  2019  |  Psychology & Health

OBJECTIVE: Hereditary Haemorrhagic Telangiectasia (HHT) is a genetic condition causing frequent nose bleeds, skin lesions (telangi..

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Population genomic screening of all young adults in a health-care system: a cost-effectiveness analysis

L Zhang, Y Bao, M Riaz, J Tiller, D Liew, X Zhuang, DJ Amor, A Huq, L Petelin, M Nelson, PJ James, I Winship, JJ McNeil, P Lacaze

Conference Proceedings  |  2019  |  EUROPEAN JOURNAL OF HUMAN GENETICS

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Ability of known susceptibility SNPs to predict colorectal cancer risk for persons with and without a family history

Mark A Jenkins, Aung K Win, James G Dowty, Robert J MacInnis, Enes Makalic, Daniel F Schmidt, Gillian S Dite, Mirosl Kapuscinski, Mark Clendenning, Christophe Rosty, Ingrid M Winship, Jon D Emery, Sibel Saya, Finlay A Macrae, Dennis J Ahnen, David Duggan, Jane C Figueiredo, Noralane M Lindor, Robert W Haile, John D Potter, et al.

Journal article  |  2019  |  FAMILIAL CANCER

Before SNP-based risk can be incorporated in colorectal cancer (CRC) screening, the ability of these SNPs to estimate CRC risk for..

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Population genomic screening of all young adults in a health-care system: a cost-effectiveness analysis

Lei Zhang, Yining Bao, Moeen Riaz, Jane Tiller, Danny Liew, Xun Zhuang, David J Amor, Aamira Huq, Lara Petelin, Mark Nelson, Paul A James, Ingrid Winship, John J McNeil, Paul Lacaze

Journal article  |  2019  |  Genetics in Medicine

PURPOSE: To consider the impact and cost-effectiveness of offering preventive population genomic screening to all young adults in ..

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Population genomic screening of all young adults in a health-care system: a cost-effectiveness analysis (vol 21, pg 1958, 2019)

Lei Zhang, Yining Bao, Moeen Riaz, Jane Tiller, Danny Liew, Xun Zhuang, David J Amor, Aamira Huq, Lara Petelin, Mark Nelson, Paul A James, Ingrid Winship, John J McNeil, Paul Lacaze

Journal article  |  2019  |  Genetics in Medicine

In the original version of this Article, the affiliation details for Lei Zhang were given as Monash University. While working on t..

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Genetic mosaicism in dermatology: Clinical utility of genetic testing of skin lesions

Brent J Doolan, Aaron J Robinson, Matthew Regan, Abiramy Ragunathan, Ingrid Winship

Journal article  |  2019  |  Australasian Journal of Dermatology

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Homologous recombination DNA repair defects in PALB2-associated breast cancers

Anqi Li, Felipe C Geyer, Pedro Blecua, Ju Youn Lee, Pier Selenica, David N Brown, Fresia Pareja, Simon SK Lee, Rahul Kumar, Barbara Rivera, Rui Bi, Salvatore Piscuoglio, Hannah Y Wen, John R Lozada, Rodrigo Gularte-Merida, Luca Cavallone, Zoulikha Rezoug, Tu Nguyen-Dumont, Paolo Peterlongo, Carlo Tondini, et al.

Journal article  |  2019  |  npj Breast Cancer

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Phacomatosis pigmentokeratotica: Postzygotic HRAS mutation with malignant degeneration of the sebaceous naevus

William C Cranwell, Maie Walsh, Ingrid Winship

Journal article  |  2019  |  Australasian Journal of Dermatology

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Tumor mutational signatures in sebaceous skin lesions from individuals with Lynch syndrome

Peter Georgeson, Michael D Walsh, Mark Clendenning, Simin Daneshvar, Bernard J Pope, Khalid Mahmood, Jihoon E Joo, Harindra Jayasekara, Mark A Jenkins, Ingrid M Winship, Daniel D Buchanan

Journal article  |  2019  |  Molecular Genetics & Genomic Medicine

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A novel approach for offering additional findings to patients - separating the decision from diagnostic testing

EL Lynch, M Martyn, A Kanga-Parabia, P James, S Lunke, I Macciocca, M Wallis, MF Hunter, A Trainer, J Halliday, N Brown, L Keogh, J Wale, I Winship, C Gaff

Conference Proceedings  |  2019  |  EUROPEAN JOURNAL OF HUMAN GENETICS

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Arrhythmogenic Right Ventricular Cardiomyopathy: A Review of Living and Deceased Probands

David I Blusztein, Dominica Zentner, Tina Thompson, Pavithra Jayadeva, Danlu Liang, Ray Wang, Ingrid Winship, Paul A James, Alison H Trainer, Jonathan M Kalman, Jitendra Vohra

Journal article  |  2019  |  Heart, Lung and Circulation

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Phenotypic confirmation of oligodontia, colorectal polyposis and cancer in a family carrying an exon 7 nonsense variant in the AXIN2 gene

Catherine Beard, Rebecca Purvis, Ingrid M Winship, Finlay A Macrae, Daniel D Buchanan

Journal article  |  2019  |  Familial Cancer

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The Use of Optimal Treatment for DLBCL Is Improving in All Age Groups and Is a Key Factor in Overall Survival, but Non-Clinical Factors Influence Treatment

Nicole Wong Doo, Victoria M White, Kara Martin, Julie K Bassett, H Miles Prince, Simon J Harrison, Michael Jefford, Ingrid Winship, Jeremy L Millar, Roger L Milne, John F Seymour, Graham G Giles

Journal article  |  2019  |  Cancers

INTRODUCTION: Diffuse large B cell lymphoma (DLBCL) is an aggressive form of non-Hodgkin lymphoma for which a cure is usually the ..

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Incident Chronic Kidney Disease After Radical Nephrectomy for Renal Cell Carcinoma

Robert J Ellis, Victoria M White, Damien M Bolton, Michael D Coory, Ian D Davis, Ross S Francis, Graham G Giles, Glenda C Gobe, David JT Marco, Rachel E Neale, Simon T Wood, Susan J Jordan, Graham Giles, Victoria White, Michael Coory, Jeremy Millar, Damien Bolton, Ian Davis, Ingrid Winship, Ian Roos, et al.

Journal article  |  2019  |  Clinical Genitourinary Cancer

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Clinico-pathological predictors of mismatch repair deficiency in sebaceous neoplasia: A large case series from a single Australian private pathology service

Michael D Walsh, Harindra Jayasekara, Alvin Huang, Ingrid M Winship, Daniel D Buchanan

Journal article  |  2019  |  Australasian Journal of Dermatology

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Loss-of-Function in SMAD4 Might Not Be Critical for Human Natural Killer Cell Responsiveness to TGF-beta

Lachlan P Healy, Gustavo P Rossi, Jai Rautela, Charlotte A Slade, Nicholas D Huntington, Ingrid M Winship, Fernando Souza-Fonseca-Guimaraes

Journal article  |  2019  |  Frontiers in Immunology

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Assessing the ProMCol classifier as a prognostic marker for non-metastatic colorectal cancer within the Melbourne Collaborative Cohort Study

Jihoon E Joo, Harindra Jayasekara, Ee Ming Wong, Mark Clendenning, Christophe Rosty, Ingrid M Winship, Mark A Jenkins, John L Hopper, Dallas R English, Roger L Milne, Graham G Giles, Melissa C Southey, Daniel D Buchanan

Journal article  |  2019  |  Gut

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A novel approach to offering additional genomic findings-A protocol to test a two-step approach in the healthcare system

Melissa Martyn, Anaita Kanga-Parabia, Elly Lynch, Paul A James, Ivan Macciocca, Alison H Trainer, Jane Halliday, Louise Keogh, Janney Wale, Ingrid Winship, Michael Bogwitz, Giulia Valente, Maie Walsh, Lilian Downie, David Amor, Mathew Wallis, Fiona Cunningham, Matthew Burgess, Natasha J Brown, Anna Jarmolowicz, et al.

Journal article  |  2019  |  Journal of Genetic Counseling

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Cancer Risks for PMS2-Associated Lynch Syndrome (vol 29, pg 2961, 2018)

Sanne W ten Broeke, Heleen M van der Klift, Carli MJ Tops, Stefan Aretz, Inge Bernstein, Daniel D Buchanan, Albert de la Chapelle, Gabriel Capella, Mark Clendenning, Christoph Engel, Steven Gallinger, Encarna Gomez Garcia, Jane C Figueiredo, Robert Haile, Heather L Hampel, Liselotte van Hest, John L Hopper, Nicoline Hoogerbrugge, Magnus von Knebel Doeberitz, Loic Le Marchand, et al.

Artefact  |  2019  |  Journal of Clinical Oncology

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Insights into sudden cardiac death: exploring the potential relevance of non-diagnostic autopsy findings

Hariharan Raju, Sarah Parsons, Tina N Thompson, Natalie Morgan, Dominica Zentner, Alison H Trainer, Paul A James, Ingrid M Winship, Jonathan M Kalman, Jitendra Vohra

Journal article  |  2019  |  European Heart Journal

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Lack of association between screening interval and cancer stage in Lynch syndrome may be accounted for by over-diagnosis; a prospective Lynch syndrome database report

Toni T Seppala, Aysel Ahadova, Mev Dominguez-Valentin, Finlay Macrae, D Gareth Evans, Christina Therkildsen, Julian Sampson, Rodney Scott, John Burn, Gabriela Moeslein, Inge Bernstein, Elke Holinski-Feder, Kirsi Pylvanainen, Laura Renkonen-Sinisalo, Anna Lepisto, Charlotte Kvist Lautrup, Annika Lindblom, John-Paul Plazzer, Ingrid Winship, Douglas Tjandra, et al.

Journal article  |  2019  |  Hereditary Cancer in Clinical Practice

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A Demonstration of the Diagnostic and Clinical Utility of Genomic Sequencing in Primary Immunodeficiency Diseases in Australia

Charlotte Slade, Fiona Moghaddas, Sebastian Lunke, Zornitza Stark, Ingrid Winship, Kirsty West, Alison Trainer, Samar Ojaimi, Matthew Hunter, Yael Prawer, Katherine Nicholls, Mittal Patel, Pricilla Auyeung, Kymble Spriggs, Jeremy McComish, Gary Unglik, Joseph De Luca, Samantha Chan, Giulia Valente, Anna Jarmolowicz, et al.

Conference Proceedings  |  2019  |  JOURNAL OF CLINICAL IMMUNOLOGY

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The influence of obesity-related factors in the etiology of renal cell carcinoma-A mendelian randomization study

Mattias Johansson, Robert Carreras-Torres, Ghislaine Scelo, Mark P Purdue, Daniela Mariosa, David C Muller, Nicolas J Timpson, Philip C Haycock, Kevin M Brown, Zhaoming Wang, Yuanqing Ye, Jonathan N Hofmann, Matthieu Foll, Valerie Gaborieau, Mitchell J Machiela, Leandro M Colli, Peng Li, Jean-Guillaume Garnier, Helene Blanche, Anne Boland, et al.

Journal article  |  2019  |  PLOS Medicine

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Hemangioblastoma in Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome: a phenotypic overlap between VHL and HLRCC Syndromes

Eryn Dow, Ingrid M Winship

Journal article  |  2019  |  Familial Cancer

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Utility of immunohistochemistry for mismatch repair proteins on colorectal polyps in the familial cancer clinic

Eryn Dow, Daniel D Buchanan, Ingrid M Winship

Journal article  |  2018  |  Internal Medicine Journal

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APRT deficiency: the need for early diagnosis.

Aamira Huq, Kushma Nand, Rajiv Juneja, Ingrid Winship

Journal article  |  2018  |  BMJ Case Reports

Adenine phosphoribosyltransferase (APRT) deficiency is a rare autosomal recessive disorder which leads to accumulation of poorly s..

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Cancer Risks for PMS2-Associated Lynch Syndrome

Sanne W ten Broeke, Heleen M van der Klift, Carli MJ Tops, Stefan Aretz, Inge Bernstein, Daniel D Buchanan, Albert de la Chapelle, Gabriel Capella, Mark Clendenning, Christoph Engel, Steven Gallinger, Encarna Gomez Garcia, Jane C Figueiredo, Robert Haile, Heather L Hampel, John L Hopper, Nicoline Hoogerbrugge, Magnus von Knebel Doeberitz, Loic Le Marchand, Tom GW Letteboer, et al.

Journal article  |  2018  |  JOURNAL OF CLINICAL ONCOLOGY

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Mutations in SUFU and PTCH1 genes may cause different cutaneous cancer predisposition syndromes: similar, but not the same

AJ Huq, M Walsh, B Rajagopalan, M Finlay, AH Trainer, F Bonnet, N Sevenet, IM Winship

Journal article  |  2018  |  Familial Cancer

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Risk of colorectal cancer for carriers of a germ-line mutation in POLE or POLD1 (vol 20, pg 890, 2018)

Daniel D Buchanan, Jenna R Stewart, Mark Clendenning, Christophe Rosty, Khalid Mahmood, Bernard J Pope, Mark A Jenkins, John L Hopper, Melissa C Southey, Finlay A Macrae, Ingrid M Winship, Aung Ko Win

Journal article  |  2018  |  Genetics in Medicine

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Absence of renal phenotype in hereditary haemorrhagic telangiectasia

Lachlan Healy, Kathleen Nicholls, Robert Gibson, Damien Stella, Michael Bogwitz, Jessica Taylor, Maie Walsh, Liz Donaldson, Ingrid Winship

Journal article  |  2018  |  Internal Medicine Journal

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Maximizing the Clinical Benefit of DPYD Genotyping: Extending the Opportunity of Personalized Management to Family Members Through Cascade Testing

Emily J Higgs, Kelly-Anne Phillips, Louisa L Lo, Ingrid M Winship

Journal article  |  2018  |  JCO Precision Oncology

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Family history-based colorectal cancer screening in Australia: A modelling study of the costs, benefits, and harms of different participation scenarios

Mary Dillon, Louisa Flander, Daniel D Buchanan, Finlay A Macrae, Jon D Emery, Ingrid M Winship, Alex Boussioutas, Graham G Giles, John L Hopper, Mark A Jenkins, Driss Ait Ouakrim

Journal article  |  2018  |  PLOS MEDICINE

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Risk of colorectal cancer for carriers of a germ-line mutation in POLE or POLD1

Daniel D Buchanan, Jenna R Stewart, Mark Clendenning, Christophe Rosty, Khalid Mahmood, Bernard J Pope, Mark A Jenkins, John L Hopper, Melissa C Southey, Finlay A Macrae, Ingrid M Winship, Aung Ko Win

Journal article  |  2018  |  GENETICS IN MEDICINE

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The use of a risk assessment and decision support tool (CRISP) compared with usual care in general practice to increase risk-stratified colorectal cancer screening: study protocol for a randomised controlled trial

Jennifer G Walker, Finlay Macrae, Ingrid Winship, Jasmeen Oberoi, Sibel Saya, Shakira Milton, Adrian Bickerstaffe, James G Dowty, Richard De Abreu Lourenco, Malcolm Clark, Louise Galloway, George Fishman, Fiona M Walter, Louisa Flander, Patty Chondros, Driss Ait Ouakrim, Marie Pirotta, Lyndal Trevena, Mark A Jenkins, Jon D Emery

Journal article  |  2018  |  TRIALS

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Update on Hereditary Colorectal Cancer: Improving the Clinical Utility of Multigene Panel Testing

Marie Lorans, Eryn Dow, Finlay A Macrae, Ingrid M Winship, Daniel D Buchanan

Journal article  |  2018  |  Clinical Colorectal Cancer

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Is RNASEL:p.Glu265*a modifier of early-onset breast cancer risk for carriers of high-risk mutations?

Tu Nguyen-Dumont, Zhi L Teo, Fleur Hammet, Alexis Roberge, Maryam Mahmoodi, Helen Tsimiklis, Daniel J Park, Bernard J Pope, Andrew Lonie, Miroslav K Kapuscinski, Khalid Mahmood, David E Goldgar, Graham G Giles, Ingrid Winship, John L Hopper, Melissa C Southey

Journal article  |  2018  |  BMC Cancer

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A rapid scoring tool to assess mutation probability in patients with inherited cardiac disorders

Dominica Zentner, Tina Thompson, Jessica Taylor, Michael Bogwitz, Alison Trainer, Jitendra Vohra, Ingrid Winship, Paul A James

Journal article  |  2018  |  European Journal of Medical Genetics

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Genomic Characterization of Upper-Tract Urothelial Carcinoma in Patients With Lynch Syndrome

Timothy E Donahue, Aditya Bagrodia, Francois Audenet, Mark TA Donoghue, Eugene K Cha, John P Sfakianos, Dahlia Sperling, Hikmat Al-Ahmadie, Mark Clendenning, Christophe Rosty, Daniel D Buchanan, Mark Jenkins, John Hopper, Ingrid Winship, Allyson S Templeton, Michael F Walsh, Zsofia K Stadler, Gopa Iyer, Barry Taylor, Jonathan Coleman, et al.

Journal article  |  2018  |  JCO Precision Oncology

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Somatic mutations of the coding microsatellites within the beta-2-microglobulin gene in mismatch repair-deficient colorectal cancers and adenomas

Mark Clendenning, Alvin Huang, Harindra Jayasekara, Marie Lorans, Susan Preston, Neil O'Callaghan, Bernard J Pope, Finlay A Macrae, Ingrid M Winship, Roger L Milne, Graham G Giles, Dallas R English, John L Hopper, Aung K Win, Mark A Jenkins, Melissa C Southey, Christophe Rosty, Daniel D Buchanan

Journal article  |  2018  |  FAMILIAL CANCER

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The influence of unmet supportive care needs on anxiety and depression during cancer treatment and beyond: a longitudinal study of survivors of haematological cancers

Devesh Oberoi, Victoria M White, John F Seymour, H Miles Prince, Simon Harrison, Michael Jefford, Ingrid Winship, David Hill, Damien Bolton, Anne Kay, Jeremy Millar, Nicole Wong Doo, Graham Giles

Journal article  |  2017  |  Supportive Care in Cancer

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Trends in the surgical management of stage 1 renal cell carcinoma: findings from a population-based study

Victoria White, David JT Marco, Damien Bolton, Ian Douglas Davis, Michael Jefford, David Hill, Henry Miles Prince, Jeremy L Millar, Ingrid M Winship, Michael Coory, Graham G Giles

Journal article  |  2017  |  BJU International

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Penetrance and the Healthy Elderly

Paul Lacaze, Ingrid Winship, John McNeil

Journal article  |  2017  |  Genetic Testing and Molecular Biomarkers

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Distress and unmet needs during treatment and quality of life in early cancer survivorship: A longitudinal study of haematological cancer patients

Devesh V Oberoi, Victoria M White, John F Seymour, H Miles Prince, Simon Harrison, Michael Jefford, Ingrid Winship, David J Hill, Damien Bolton, Jeremy Millar, Nicole Wong Doo, Anne Kay, Graham Giles

Journal article  |  2017  |  European Journal of Haematology

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Multiple cutaneous leiomyomas leading to discovery of novel splice mutation in the fumarate hydratase gene associated with HLRCC

Rachel Yi Ping Tan, Maie Walsh, Anne Howard, Ingrid Winship

Journal article  |  2017  |  Australasian Journal of Dermatology

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Preparing for genomic medicine: a real world demonstration of health system change (vol 2, 16, 2017)

Clara L Gaff, Ingrid M Winship, Susan M Forrest, David P Hansen, Julian Clark, Paul M Waring, Mike South, Andrew H Sinclair

Journal article  |  2017  |  npj Genomic Medicine

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Pathogenic variants in the healthy elderly: unique ethical and practical challenges

Paul Lacaze, Joanne Ryan, Robyn Woods, Ingrid Winship, John McNeil

Journal article  |  2017  |  Journal of Medical Ethics

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Rare disease registries: a call to action

Paul Lacaze, Nicole Millis, Megan Fookes, Yvonne Zurynski, Adam Jaffe, Matthew Bellgard, Ingrid Winship, John McNeil, Alan H Bittles

Journal article  |  2017  |  Internal Medicine Journal

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Consent Processes for Mobile App Mediated Research: Systematic Review

Sarah Moore, Anne-Marie Tasse, Adrian Thorogood, Ingrid Winship, Ma'n Zawati, Megan Doerr

Journal article  |  2017  |  JMIR mHealth and uHealth

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Mutation screening of ACKR3 and COPS8 in kidney cancer cases from the CONFIRM study

Maryam Mahmoodi, Nguyen-Dumont Tu, Fleur Hammet, Bernard J Pope, Daniel J Park, Melissa C Southey, John M Darlow, Fiona Bruinsma, Ingrid Winship

Journal article  |  2017  |  FAMILIAL CANCER

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Genome-wide association study identifies multiple risk loci for renal cell carcinoma

Ghislaine Scelo, Mark P Purdue, Kevin M Brown, Mattias Johansson, Zhaoming Wang, Jeanette E Eckel-Passow, Yuanqing Ye, Jonathan N Hofmann, Jiyeon Choi, Matthieu Foll, Valerie Gaborieau, Mitchell J Machiela, Leandro M Colli, Peng Li, Joshua N Sampson, Behnoush Abedi-Ardekani, Celine Besse, Helene Blanche, Anne Boland, Laurie Burdette, et al.

Journal article  |  2017  |  Nature Communications

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Cohort study of Gorlin syndrome with emphasis on standardised phenotyping and quality of life assessment

Aamira J Huq, Michael Bogwitz, Alexandra Gorelik, Ingrid M Winship, Susan M White, Alison H Trainer

Journal article  |  2017  |  Internal Medicine Journal

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Lack of evidence for germline RNF43 mutations in patients with serrated polyposis syndrome from a large multinational study

Daniel D Buchanan, Mark Clendenning, Li Zhuoer, Jenna R Stewart, Sharelle Joseland, Sonja Woodall, Julie Arnold, Kara Semotiuk, Melyssa Aronson, Spring Holter, Steven Gallinger, Mark A Jenkins, Kevin Sweet, Finlay A Macrae, Ingrid M Winship, Susan Parry, Christophe Rosty

Journal article  |  2017  |  Gut

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The course of anxiety, depression and unmet needs in survivors of diffuse large B cell lymphoma and multiple myeloma in the early survivorship period

Devesh Oberoi, Victoria White, John Seymour, H Miles Prince, Simon Harrison, Michael Jefford, Ingrid Winship, David Hill, Damien Bolton, Anne Kay, Jeremy Millar, Nicole Wong Doo, Graham Giles

Journal article  |  2017  |  Journal of Cancer Survivorship

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The role of STK 11 gene testing in individuals with oral pigmentation

Duong Bich-Thu, Ingrid Winship

Journal article  |  2017  |  Australasian Journal of Dermatology

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Preparing for genomic medicine: a real world demonstration of health system change

Clara L Gaff, Ingrid M Winship, Susan M Forrest, David P Hansen, Julian Clark, Paul M Waring, Mike South, Andrew H Sinclair

Journal article  |  2017  |  npj Genomic Medicine

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Meanings of abortion in context: accounts of abortion in the lives of women diagnosed with breast cancer

Maggie Kirkman, Carmel Apicella, Jillian Graham, Martha Hickey, John L Hopper, Louise Keogh, Ingrid Winship, Jane Fisher

Journal article  |  2017  |  BMC WOMENS HEALTH

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Alcohol Consumption and the Risk of Colorectal Cancer for Mismatch Repair Gene Mutation Carriers

S Ghazaleh Dashti, Daniel D Buchanan, Harindra Jayasekara, Driss Ait Ouakrim, Mark Clendenning, Christophe Rosty, Ingrid M Winship, Finlay A Macrae, Graham G Giles, Susan Parry, Graham Casey, Robert W Haile, Steven Gallinger, Loic Le Marchand, Stephen N Thibodeau, Noralane M Lindor, Polly A Newcomb, John D Potter, John A Baron, John L Hopper, et al.

Journal article  |  2017  |  CANCER EPIDEMIOLOGY BIOMARKERS & PREVENTION

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Tumor testing to identify lynch syndrome in two Australian colorectal cancer cohorts

Daniel D Buchanan, Mark Clendenning, Christophe Rosty, Stine V Eriksen, Michael D Walsh, Rhiannon J Walters, Stephen N Thibodeau, Jenna Stewart, Susan Preston, Aung Ko Win, Louisa Flander, Driss Ait Ouakrim, Finlay A Macrae, Alex Boussioutas, Ingrid M Winship, Graham G Giles, John L Hopper, Melissa C Southey, Dallas English, Mark A Jenkins

Journal article  |  2017  |  JOURNAL OF GASTROENTEROLOGY AND HEPATOLOGY

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SNP rs16906252C > T Is an Expression and Methylation Quantitative Trait Locus Associated with an Increased Risk of Developing MGMT-Methylated Colorectal Cancer

Joice Kuroiwa-Trzmielina, Fan Wang, Robert W Rapkins, Robyn L Ward, Daniel D Buchanan, Aung Ko Win, Mark Clendenning, Christophe Rosty, Melissa C Southey, Ingrid M Winship, John L Hopper, Mark A Jenkins, Jake Olivier, Nicholas J Hawkins, Megan P Hitchins

Journal article  |  2016  |  CLINICAL CANCER RESEARCH

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Renal Angiomyolipoma in Birt-Hogg-Dube Syndrome: A Case Study Supporting Overlap with Tuberous Sclerosis Complex

Eryn Dow, Ingrid Winship

Journal article  |  2016  |  American Journal of Medical Genetics Part A

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PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS

Melissa C Southey, David E Goldgar, Robert Winqvist, Katri Pylkas, Fergus Couch, Marc Tischkowitz, William D Foulkes, Joe Dennis, Kyriaki Michailidou, Elizabeth J van Rensburg, Tuomas Heikkinen, Heli Nevanlinna, John L Hopper, Thilo Doerk, Kathleen BM Claes, Jorge Reis-Filho, Zhi Ling Teo, Paolo Radice, Irene Catucci, Paolo Peterlongo, et al.

Journal article  |  2016  |  Journal of Medical Genetics

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Caregivers' information needs and their 'experiences of care' during treatment are associated with elevated anxiety and depression: a cross-sectional study of the caregivers of renal cancer survivors

Devesh V Oberoi, Vicki White, Michael Jefford, Graham G Giles, Damien Bolton, Ian Davis, Ingrid Winship, H Miles Prince, Jeremy Millar, Simon Harrison, Anne Kay, David Hill

Journal article  |  2016  |  Supportive Care in Cancer

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Risk of extracolonic cancers for people with biallelic and monoallelic mutations in MUTYH

Aung Ko Win, Jeanette C Reece, James G Dowty, Daniel D Buchanan, Mark Clendenning, Christophe Rosty, Melissa C Southey, Joanne P Young, Sean P Cleary, Hyeja Kim, Michelle Cotterchio, Finlay A Macrae, Katherine M Tucker, John A Baron, Terrilea Burnett, Loic Le Marchand, Graham Casey, Robert W Haile, Polly A Newcomb, Stephen N Thibodeau, et al.

Journal article  |  2016  |  INTERNATIONAL JOURNAL OF CANCER

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Risk factors for metachronous colorectal cancer following a primary colorectal cancer: A prospective cohort study

Harindra Jayasekara, Jeanette C Reece, Daniel D Buchanan, Christophe Rosty, S Ghazaleh Dashti, Driss Ait Ouakrim, Ingrid M Winship, Finlay A Macrae, Alex Boussioutas, Graham G Giles, Dennis J Ahnen, Jan Lowery, Graham Casey, Robert W Haile, Steven Gallinger, Loic Le Marchand, Polly A Newcomb, Noralane M Lindor, John L Hopper, Susan Parry, et al.

Journal article  |  2016  |  INTERNATIONAL JOURNAL OF CANCER

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A Prospective Study of Sudden Cardiac Death among Children and Young Adults

RD Bagnall, RG Weintraub, J Ingles, J Duflou, L Yeates, L Lam, AM Davis, T Thompson, V Connell, J Wallace, C Naylor, J Crawford, DR Love, L Hallam, J White, C Lawrence, M Lynch, N Morgan, P James, D du Sart, et al.

Journal article  |  2016  |  New England Journal of Medicine

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Multivitamin, calcium and folic acid supplements and the risk of colorectal cancer in Lynch syndrome

Rowena Chau, Seyedeh Ghazaleh Dashti, Driss Ait Ouakrim, Daniel D Buchanan, Mark Clendenning, Christophe Rosty, Ingrid M Winship, Joanne P Young, Graham G Giles, Finlay A Macrae, Alex Boussioutas, Susan Parry, Jane C Figueiredo, A Joan Levine, Dennis J Ahnen, Graham Casey, Robert W Haile, Steven Gallinger, Loic Le Marchand, Stephen N Thibodeau, et al.

Journal article  |  2016  |  International Journal of Epidemiology

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PALB2: research reaching to clinical outcomes for women with breast cancer

Melissa C Southey, Ingrid Winship, Nguyen-Dumont Tu

Journal article  |  2016  |  HEREDITARY CANCER IN CLINICAL PRACTICE

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Gene panel testing for hereditary breast cancer

Ingrid Winship, Melissa C Southey

Journal article  |  2016  |  Medical Journal of Australia

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Gene panel testing for hereditary breast cancer

Ingrid Winship, Melissa C Southey

Journal article  |  2016  |  MEDICAL JOURNAL OF AUSTRALIA

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Outcomes of a randomised controlled trial of a complex genetic counselling intervention to improve family communication

Jan Hodgson, Sylvia Metcalfe, Clara Gaff, Susan Donath, Martin B Delatycki, Ingrid Winship, Loane Skene, MaryAnne Aitken, Jane Halliday

Journal article  |  2016  |  European Journal of Human Genetics

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Mal de Meleda in Indonesia: Mutations in the SLURP1 gene appear to be ubiquitous

Jessica A Taylor, Davide Bondavalli, Mastura Monif, Lee Mei Yap, Ingrid Winship

Journal article  |  2016  |  Australasian Journal of Dermatology

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Germline mutations in PMS2 and MLH1 in individuals with solitary loss of PMS2 expression in colorectal carcinomas from the Colon Cancer Family Registry Cohort

Christophe Rosty, Mark Clendenning, Michael D Walsh, Stine V Eriksen, Melissa C Southey, Ingrid M Winship, Finlay A Macrae, Alex Boussioutas, Nicola K Poplawski, Susan Parry, Julie Arnold, Joanne P Young, Graham Casey, Robert W Haile, Steven Gallinger, Loic Le Marchand, Polly A Newcomb, John D Potter, Melissa DeRycke, Noralane M Lindor, et al.

Journal article  |  2016  |  BMJ OPEN

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Multiple familial pilomatrixomas in the absence of other clinical features: a case of familial benign pilomatrixoma

Aaron James Robinson, Sharon Wallace, Ingrid Winship

Journal article  |  2016  |  Australasian Journal of Dermatology

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Incidental diagnosis of HLRCC following investigation for Asperger Syndrome: actionable and actioned

Duong Bich-Thu, Ravi Savarirayan, Ingrid Winship

Journal article  |  2016  |  Familial Cancer

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Lynch syndrome and cervical cancer

Yoland C Antill, James G Dowty, Aung Ko Win, Tina Thompson, Michael D Walsh, Margaret C Cummings, Steven Gallinger, Noralane M Lindor, Loic Le Marchand, John L Hopper, Polly A Newcomb, Robert W Haile, James Church, Katherine M Tucker, Daniel D Buchanan, Joanne P Young, Ingrid M Winship, Mark A Jenkins

Journal article  |  2015  |  INTERNATIONAL JOURNAL OF CANCER

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A Novel von Hippel Lindau Gene Intronic Variant and Its Reclassification from VUS to Pathogenic: the Impact on a Large Family

A Sexton, L Rawlings, G McKavanagh, K Simons, I Winship

Journal article  |  2015  |  Journal of Genetic Counseling

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Risk of colorectal cancer for people with a mutation in both a MUTYH and a DNA mismatch repair gene

Aung Ko Win, Jeanette C Reece, Daniel D Buchanan, Mark Clendenning, Joanne P Young, Sean P Cleary, Hyeja Kim, Michelle Cotterchio, James G Dowty, Robert J MacInnis, Katherine M Tucker, Ingrid M Winship, Finlay A Macrae, Terrilea Burnett, Loic Le Marchand, Graham Casey, Robert W Haile, Polly A Newcomb, Stephen N Thibodeau, Noralane M Lindor, et al.

Journal article  |  2015  |  FAMILIAL CANCER

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Genetic variants within the hTERT gene and the risk of colorectal cancer in Lynch syndrome.

Aung Ko Win, Mark Clendenning, William Crawford, Christophe Rosty, Susan G Preston, Melissa C Southey, Susan Parry, Graham G Giles, Finlay A Macrae, Ingrid M Winship, John A Baron, John L Hopper, Mark A Jenkins, Daniel D Buchanan

Journal article  |  2015  |  Genes Cancer

Lynch syndrome is an inherited cancer-predisposing disorder caused by germline mutations in the DNA mismatch repair (MMR) genes bu..

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Halo naevi and cafe au lait macule regression in a renal transplant patient on immunosuppression

Helena Lolatgis, George Varigos, Anna Braue, Laura Scardamaglia, Ann Boyapati, Ingrid Winship

Journal article  |  2015  |  Australasian Journal of Dermatology

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Sudden unexpected death, epilepsy and familial cardiac pathology

AJ Eastaugh, T Thompson, JK Vohra, TJ O'Brien, I Winship

Journal article  |  2015  |  Journal of Clinical Neuroscience

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The Cardiac Genetics Clinic: a model for multidisciplinary genomic medicine

Dominica Zentner, Tina N Thompson, Paul A James, Alison Trainer, Lesley C Ades, Ivan Macciocca, Jessica A Taylor, Kirsty Mann, Michael Bogwitz, Nigel Lewis, Natalie Morgan, Jitendra Vohra, Ingrid Winship

Journal article  |  2015  |  Medical Journal of Australia

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The role of specialist nurses in cardiac genetics the Victorian experience: supporting partnerships in care

Tina Thompson, Natalie Morgan, Vanessa Connell, Dominica Zentner, Andrew Davis, Andreas Pflaumer, Noel WF Woodford, Ingrid Winship

Journal article  |  2015  |  Australian Journal of Advanced Nursing

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Fertility after young-onset colorectal cancer: a study of subjects with Lynch syndrome

D Stupart, AK Win, IM Winship, M Jenkins

Journal article  |  2015  |  COLORECTAL DISEASE

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Aspirin, Ibuprofen, and the Risk for Colorectal Cancer in Lynch Syndrome

Driss Ait Ouakrim, Seyedeh Ghazaleh Dashti, Rowena Chau, Daniel D Buchanan, Mark Clendenning, Christophe Rosty, Ingrid M Winship, Joanne P Young, Graham G Giles, Barbara Leggett, Finlay A Macrae, Dennis J Ahnen, Graham Casey, Steven Gallinger, Robert W Haile, Loic Le Marchand, Stephen N Thibodeau, Noralane M Lindor, Polly A Newcomb, John D Potter, et al.

Journal article  |  2015  |  JNCI-JOURNAL OF THE NATIONAL CANCER INSTITUTE

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Implementing a telephone based peer support intervention for women with a BRCA1/2 mutation

Ashley Farrelly, Victoria White, Mary-Anne Young, Michael Jefford, Sandra Ieropoli, Jessica Duffy, Ingrid Winship, Bettina Meiser

Journal article  |  2015  |  Familial Cancer

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Precision medicine: are we there?

I Winship

Journal article  |  2015  |  Medical Journal of Australia

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Researchers Uncover Novel Spatially Defined Stem Cells

Tracy Hampton

Journal article  |  2015  |  JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

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Female Hormonal Factors and the Risk of Endometrial Cancer in Lynch Syndrome

Seyedeh Ghazaleh Dashti, Rowena Chau, Driss Ait Ouakrim, Daniel D Buchanan, Mark Clendenning, Joanne P Young, Ingrid M Winship, Julie Arnold, Dennis J Ahnen, Robert W Haile, Graham Casey, Steven Gallinger, Stephen N Thibodeau, Noralane M Lindor, Loic Le Marchand, Polly A Newcomb, John D Potter, John A Baron, John L Hopper, Mark A Jenkins, et al.

Journal article  |  2015  |  JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

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Interpretation of genomic variation and disease association: the great missense mutation challenge!

Nguyen-Dumont Tu, Ingrid Winship, Melissa C Southey

Journal article  |  2015  |  Breast Cancer Research and Treatment

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Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer

Kyriaki Michailidou, Jonathan Beesley, Sara Lindstrom, Sander Canisius, Joe Dennis, Michael J Lush, Mel J Maranian, Manjeet K Bolla, Qin Wang, Mitul Shah, Barbara J Perkins, Kamila Czene, Mikael Eriksson, Hatef Darabi, Judith S Brand, Stig E Bojesen, Borge G Nordestgaard, Henrik Flyger, Sune F Nielsen, Nazneen Rahman, et al.

Journal article  |  2015  |  NATURE GENETICS

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Is Cardiac Rhabdomyoma a Feature of Birt Hogg Dube Syndrome?

Davide Bondavalli, Susan M White, Andrew Steer, Andreas Pflaumer, Ingrid Winship

Journal article  |  2015  |  American Journal of Medical Genetics Part A

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Multiple skin hamartomata: a possible novel clinical presentation of SUFU neoplasia syndrome

Kirsty Mann, Jill Magee, Marine Guillaud-Bataille, Christophe Blondel, Brigitte Bressac-de Paillerets, Josie Yeatman, Ingrid Winship

Journal article  |  2015  |  FAMILIAL CANCER

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Vestibular schwannoma in a patient with neurofibromatosis type 1: clinical report and literature review

Aamira Huq, Maira Kentwell, Amanda Tirimacco, Jacqueline Rossini, Lesley Rawlings, Ingrid Winship

Journal article  |  2015  |  Familial Cancer

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Identification of six new susceptibility loci for invasive epithelial ovarian cancer

Karoline B Kuchenbaecker, Susan J Ramus, Jonathan Tyrer, Andrew Lee, Howard C Shen, Jonathan Beesley, Kate Lawrenson, Lesley McGuffog, Sue Healey, Janet M Lee, Tassja J Spindler, Yvonne G Lin, Tanja Pejovic, Yukie Bean, Qiyuan Li, Simon Coetzee, Dennis Hazelett, Alexander Miron, Melissa Southey, Mary Beth Terry, et al.

Journal article  |  2015  |  Nature Genetics

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Red cells from ferrochelatase-deficient erythropoietic protoporphyria patients are resistant to growth of malarial parasites

Clare M Smith, Ante Jerkovic, Herve Puy, Ingrid Winship, Jean-Charles Deybach, Laurent Gouya, Giel van Dooren, Christopher Dean Goodman, Angelika Sturm, Hana Manceau, Geoffrey Ian McFadden, Peter David, Odile Mercereau-Puijalon, Gaetan Burgio, Brendan J McMorran, Simon J Foote

Journal article  |  2015  |  Blood

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Rare genetic variants: making the connection with breast cancer susceptibility

Tu Nguyen-Dumont, Jenna Stewart, Ingrid Winship, Melissa C Southey

Journal article  |  2015  |  AIMS Genetics

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Mutation screening of PALB2 in clinically ascertained families from the Breast Cancer Family Registry

Nguyen-Dumont Tu, Fleur Hammet, Maryam Mahmoodi, Helen Tsimiklis, Zhi L Teo, Roger Li, Bernard J Pope, Mary Beth Terry, Saundra S Buys, Mary Daly, John L Hopper, Ingrid Winship, David E Goldgar, Daniel J Park, Melissa C Southey

Journal article  |  2015  |  Breast Cancer Research and Treatment

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Randomized Controlled Trial of a Telephone-Based Peer-Support Program for Women Carrying a BRCA1 or BRCA2 Mutation: Impact on Psychological Distress

Victoria M White, Mary-Anne Young, Ashley Farrelly, Bettina Meiser, Michael Jefford, Elizabeth Williamson, Sandra Ieropoli, Jessica Duffy, Ingrid Winship

Journal article  |  2014  |  Journal of Clinical Oncology

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High prevalence of mismatch repair deficiency in prostate cancers diagnosed in mismatch repair gene mutation carriers from the colon cancer family registry

Christophe Rosty, Michael D Walsh, Noralane M Lindor, Stephen N Thibodeau, Erin Mundt, Steven Gallinger, Melyssa Aronson, Aaron Pollett, John A Baron, Sally Pearson, Mark Clendenning, Rhiannon J Walters, Belinda N Nagler, William J Crawford, Joanne P Young, Ingrid Winship, Aung Ko Win, John L Hopper, Mark A Jenkins, Daniel D Buchanan

Journal article  |  2014  |  FAMILIAL CANCER

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Cerebral screening in patients with hereditary haemorrhagic telangiectasia Reply

M Salaria, P Mitchell, I Winship

Journal article  |  2014  |  Internal Medicine Journal

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Should the grading of colorectal adenocarcinoma include microsatellite instability status?

Christophe Rosty, Elizabeth J Williamson, Mark Clendenning, Rhiannon J Walters, Aung K Win, Mark A Jenkins, John L Hopper, Ingrid M Winship, Melissa C Southey, Graham G Giles, Dallas R English, Daniel D Buchanan

Journal article  |  2014  |  HUMAN PATHOLOGY

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Fertility and apparent genetic anticipation in Lynch syndrome

Douglas Stupart, Aung Ko Win, Mark Jenkins, Ingrid M Winship, Paul Goldberg, Rajkumar Ramesar

Journal article  |  2014  |  FAMILIAL CANCER

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Re: Microsatellite Instability and BRAF Mutation Testing in Colorectal Cancer Prognostication

Christophe Rosty, Elizabeth J Wiliamson, Mark Clendening, Rhianon J Walters, Michael D Walsh, Aung K Win, Mark A Jenkins, John L Hoper, Ingrid Winship, Melisa C Southey, Graham G Giles, Dalas R English, Daniel D Buchanan

Journal article  |  2014  |  JNCI-JOURNAL OF THE NATIONAL CANCER INSTITUTE

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Appreciating the broad clinical features of SMAD4 mutation carriers: a multicenter chart review

Karen E Wain, Marissa S Ellingson, Jamie McDonald, Amanda Gammon, Maegan Roberts, Pavel Pichurin, Ingrid Winship, Douglas L Riegert-Johnson, Jeffrey N Weitzel, Noralane M Lindor

Journal article  |  2014  |  Genetics in Medicine

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Women's reflections on fertility and motherhood after breast cancer and its treatment

M Kirkman, I Winship, C Stern, S Neil, GB Mann, JRW Fisher

Journal article  |  2014  |  European Journal of Cancer Care

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Hereditary haemorrhagic telangiectasia, an Australian cohort: clinical and investigative features

M Salaria, J Taylor, M Bogwitz, I Winship

Journal article  |  2014  |  Internal Medicine Journal

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Risk of Colorectal Cancer for Carriers of Mutations in MUTYH, With and Without a Family History of Cancer

Aung Ko Win, James G Dowty, Sean P Cleary, Hyeja Kim, Daniel D Buchanan, Joanne P Young, Mark Clendenning, Christophe Rosty, Robert J MacInnis, Graham G Giles, Alex Boussioutas, Finlay A Macrae, Susan Parry, Jack Goldblatt, John A Baron, Terrilea Burnett, Loic Le Marchand, Polly A Newcomb, Robert W Haile, John L Hopper, et al.

Journal article  |  2014  |  GASTROENTEROLOGY

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Succinate Dehydrogenase Deficiency Is Rare in Pituitary Adenomas

Anthony J Gill, Christopher W Toon, Adele Clarkson, Loretta Sioson, Angela Chou, Ingrid Winship, Bruce G Robinson, Diana E Benn, Roderick J Clifton-Bligh, Trisha Dwight

Journal article  |  2014  |  American Journal of Surgical Pathology

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The future in clinical genetics: affective forecasting biases in patient and clinician decision making

SA Peters, SM Laham, N Pachter, IM Winship

Journal article  |  2014  |  Clinical Genetics

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Improving family communication after a new genetic diagnosis: a randomised controlled trial of a genetic counselling intervention

Jan M Hodgson, Sylvia A Metcalfe, MaryAnne Aitken, Susan M Donath, Clara L Gaff, Ingrid M Winship, Martin B Delatycki, Loane LC Skene, Belinda J McClaren, Jean L Paul, Jane L Halliday

Journal article  |  2014  |  BMC Medical Genetics

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Dermatitis Artefacta Presenting as a Recurrent Skin Eruption in a Patient with 1p36 Deletion Syndrome

Ingrid Winship, Anna Braue

Journal article  |  2014  |  Australasian Journal of Dermatology

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Predictive Genetic Testing of a Bone Marrow Recipient-Ethical Issues Involving Unexpected Results, Gender Issues, Test Accuracy, and Implications for the Donor

A Sexton, L Rawlings, M Jenkins, I Winship

Journal article  |  2014  |  JOURNAL OF GENETIC COUNSELING

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Clinical predictors of genetic testing outcomes in hypertrophic cardiomyopathy

Jodie Ingles, Tanya Sarina, Laura Yeates, Lauren Hunt, Ivan Macciocca, Louise McCormack, Ingrid Winship, Julie McGaughran, John Atherton, Christopher Semsarian

Journal article  |  2013  |  Genetics in Medicine

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The utility of genetics in inherited cancer

Ingrid M Winship, Kathy Tucker

Journal article  |  2013  |  Medical Journal of Australia

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Familial cardiological and targeted genetic evaluation: Low yield in sudden unexplained death and high yield in unexplained cardiac arrest syndromes

Saurabh Kumar, Stacey Peters, Tina Thompson, Natalie Morgan, Ivan Maccicoca, Alison Trainer, Dominica Zentner, Jonathan M Kalman, Ingrid Winship, Jitendra K Vohra

Journal article  |  2013  |  Heart Rhythm

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Deficiency in Complement Factor B

Charlotte Slade, Julian Bosco, Gary Unglik, Karl Bleasel, Mato Nagel, Ingrid Winship

Journal article  |  2013  |  New England Journal of Medicine

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Unmet support needs and distress among women with a BRCA1/2 mutation

Ashley Farrelly, Victoria White, Bettina Meiser, Michael Jefford, Mary-Anne Young, Sandra Ieropoli, Ingrid Winship, Jessica Duffy

Journal article  |  2013  |  FAMILIAL CANCER

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A funding model for public-good clinical trials

Ingrid M Winship, John McNeil, R John Simes

Journal article  |  2013  |  Medical Journal of Australia

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Tumour morphology predicts PALB2 germline mutation status

ZL Teo, E Provenzano, GS Dite, DJ Park, C Apicella, SD Sawyer, PA James, G Mitchell, AH Trainer, GJ Lindeman, K Shackleton, L Cicciarelli, SS Buys, IL Andrulis, AM Mulligan, G Glendon, EM John, MB Terry, M Daly, FA Odefrey, et al.

Journal article  |  2013  |  BRITISH JOURNAL OF CANCER

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Familial SDHA Mutation Associated With Pituitary Adenoma and Pheochromocytoma/Paraganglioma

Trisha Dwight, Kirsty Mann, Diana E Benn, Bruce G Robinson, Penny McKelvie, Anthony J Gill, Ingrid Winship, Roderick J Clifton-Bligh

Journal article  |  2013  |  Journal of Clinical Endocrinology & Metabolism

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Risk of Metachronous Colon Cancer Following Surgery for Rectal Cancer in Mismatch Repair Gene Mutation Carriers

Aung Ko Win, Susan Parry, Bryan Parry, Matthew F Kalady, Finlay A Macrae, Dennis J Ahnen, Graeme P Young, Lara Lipton, Ingrid Winship, Alex Boussioutas, Joanne P Young, Daniel D Buchanan, Julie Arnold, Loic Le Marchand, Polly A Newcomb, Robert W Haile, Noralane M Lindor, Steven Gallinger, John L Hopper, Mark A Jenkins

Journal article  |  2013  |  ANNALS OF SURGICAL ONCOLOGY

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Family History of Colorectal Cancer in BRAF p.V600E-Mutated Colorectal Cancer Cases

Daniel D Buchanan, Aung K Win, Michael D Walsh, Rhiannon J Walters, Mark Clendenning, Belinda Nagler, Sally-Ann Pearson, Finlay A Macrae, Susan Parry, Julie Arnold, Ingrid Winship, Graham G Giles, Noralane M Lindor, John D Potter, John L Hopper, Christophe Rosty, Joanne P Young, Mark A Jenkins

Journal article  |  2013  |  CANCER EPIDEMIOLOGY BIOMARKERS & PREVENTION

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Are the common genetic variants associated with colorectal cancer risk for DNA mismatch repair gene mutation carriers?

Aung Ko Win, John L Hopper, Daniel D Buchanan, Joanne P Young, Albert Tenesa, James G Dowty, Graham G Giles, Jack Goldblatt, Ingrid Winship, Alex Boussioutas, Graeme P Young, Susan Parry, John A Baron, David Duggan, Steven Gallinger, Polly A Newcomb, Robert W Haile, Loic Le Marchand, Noralane M Lindor, Mark A Jenkins

Journal article  |  2013  |  EUROPEAN JOURNAL OF CANCER

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Co-existence of hereditary coproporphyria and porphyria cutanea tarda: The importance of genetic testing

Alice Rudd, Janine Grant, George Varigos, Vanessa Morgan, Ingrid Winship

Journal article  |  2013  |  Australasian Journal of Dermatology

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Systematic Review of Quality Improvement Interventions Directed at Cancer Specialists

Michael Coory, Victoria M White, Kristin S Johnson, David J Hill, Michael Jefford, Simon Harrison, Ingrid Winship, Jeremy Millar, Graham G Giles

Journal article  |  2013  |  Journal of Clinical Oncology

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FSH receptor gene variants are rarely associated with premature ovarian failure

Kathryn J Woad, Deborah Prendergast, Ingrid M Winship, Andrew N Shelling

Journal article  |  2013  |  Reproductive BioMedicine Online

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Risks of Colorectal and Other Cancers After Endometrial Cancer for Women With Lynch Syndrome

Aung Ko Win, Noralane M Lindor, Ingrid Winship, Katherine M Tucker, Daniel D Buchanan, Joanne P Young, Christophe Rosty, Barbara Leggett, Graham G Giles, Jack Goldblatt, Finlay A Macrae, Susan Parry, Matthew F Kalady, John A Baron, Dennis J Ahnen, Loic Le Marchand, Steven Gallinger, Robert W Haile, Polly A Newcomb, John L Hopper, et al.

Journal article  |  2013  |  JNCI-JOURNAL OF THE NATIONAL CANCER INSTITUTE

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Prevalence of PALB2 mutations in Australasian multiple-case breast cancer families

Zhi L Teo, Daniel J Park, Elena Provenzano, Catherine A Chatfield, Fabrice A Odefrey, Nguyen-Dumont Tu, James G Dowty, John L Hopper, Ingrid Winship, David E Goldgar, Melissa C Southey

Journal article  |  2013  |  Breast Cancer Research

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Prevalence of PALB2 mutations in Australasian multiple-case breast cancer families

ZL Teo, DJ Park, E Provenzano, undefined Chatfield, FA Odefrey, undefined Nguyen-Dumont, undefined KConFab, JG Dowty, JL Hopper, IM Winship, E Goldgar, MC Southey

Journal article  |  2013  |  Breast Cancer Research

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Fertility Management After Breast Cancer Diagnosis: A Qualitative Investigation of Women's Experiences of and Recommendations for Professional Care

Maggie Kirkman, Catharyn Stern, Suzanne Neil, Ingrid Winship, G Bruce Mann, Kerry Shanahan, Di Missen, Helen Shepherd, Jane RW Fisher

Journal article  |  2013  |  Health Care for Women International

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PALB2 and breast cancer: ready for clinical translation!

Melissa C Southey, Zhi L Teo, Ingrid Winship

Journal article  |  2013  |  Appl Clin Genet

For almost two decades, breast cancer clinical genetics has operated in an environment where a heritable cause of breast cancer su..

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The Australasian Colorectal Cancer Family Registry Reducing the impact of colorectal cancer

Ingrid Winship, Aung Ko Win

Journal article  |  2012  |  Medical Journal of Australia

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Screening practices of Australian men and women categorized as "at or slightly above average risk" of colorectal cancer

Driss Ait Ouakrim, Trevor Lockett, Alex Boussioutas, Louise Keogh, Louisa B Flander, Ingrid Winship, Graham G Giles, John L Hopper, Mark A Jenkins

Journal article  |  2012  |  CANCER CAUSES & CONTROL

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Phenotype in Novel Xp Duplication

Manju Salaria, Trent Burgess, Stella Setyapranata, Ingrid Winship

Journal article  |  2012  |  American Journal of Medical Genetics. Part A

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Risks of Primary Extracolonic Cancers Following Colorectal Cancer in Lynch Syndrome

Aung Ko Win, Noralane M Lindor, Joanne P Young, Finlay A Macrae, Graeme P Young, Elizabeth Williamson, Susan Parry, Jack Goldblatt, Lara Lipton, Ingrid Winship, Barbara Leggett, Katherine M Tucker, Graham G Giles, Daniel D Buchanan, Mark Clendenning, Christophe Rosty, Julie Arnold, A Joan Levine, Robert W Haile, Steven Gallinger, et al.

Journal article  |  2012  |  JNCI-JOURNAL OF THE NATIONAL CANCER INSTITUTE

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The australian national genetic heart disease registry

J Ingles, T Sarina, A Evans, J Kawa, R Weintraub, J Vohra, I Winship, J Mcgaughran, J Atherton, C Semsarian

Conference Proceedings  |  2012  |  EUROPEAN HEART JOURNAL

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Colorectal Cancer Linkage on Chromosomes 4q21, 8q13, 12q24, and 15q22

Mine S Cicek, Julie M Cunningham, Brooke L Fridley, Daniel J Serie, William R Bamlet, Brenda Diergaarde, Robert W Haile, Loic Le Marchand, Theodore G Krontiris, H Banfield Younghusband, Steven Gallinger, Polly A Newcomb, John L Hopper, Mark A Jenkins, Graham Casey, Fredrick Schumacher, Zhu Chen, Melissa S DeRycke, Allyson S Templeton, Ingrid Winship, et al.

Journal article  |  2012  |  PLOS ONE

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X-linked recessive polyfibromatosis manifesting with spontaneous keloid scars and Dupuytren's contracture

Lena Ly, Ingrid Winship

Journal article  |  2012  |  Australasian Journal of Dermatology

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Colorectal and Other Cancer Risks for Carriers and Noncarriers From Families With a DNA Mismatch Repair Gene Mutation: A Prospective Cohort Study

Aung Ko Win, Joanne P Young, Noralane M Lindor, Katherine M Tucker, Dennis J Ahnen, Graeme P Young, Daniel D Buchanan, Mark Clendenning, Graham G Giles, Ingrid Winship, Finlay A Macrae, Jack Goldblatt, Melissa C Southey, Julie Arnold, Stephen N Thibodeau, Shanaka R Gunawardena, Bharati Bapat, John A Baron, Graham Casey, Steven Gallinger, et al.

Journal article  |  2012  |  JOURNAL OF CLINICAL ONCOLOGY

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Screening Practices of Unaffected People at Familial Risk of Colorectal Cancer

Driss Ait Ouakrim, Alex Boussioutas, Trevor Lockett, Ingrid Winship, Graham G Giles, Louisa B Flander, Louise Keogh, John L Hopper, Mark A Jenkins

Journal article  |  2012  |  CANCER PREVENTION RESEARCH

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Using tumour pathology to identify people at high genetic risk of breast and colorectal cancers

JL Hopper, MA Jenkins, JG Dowty, GS Dite, C Apicella, L Keogh, AK Win, JP Young, D Buchanan, MD Walsh, C Rosty, L Baglietto, G Severi, KA Phillips, EM Wong, A Dobrovic, P Waring, I Winship, SJ Ramus, GG Giles, et al.

Journal article  |  2012  |  Pathology

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Segmentally grouped melanocytic nevi and melanoma risk Reply

Lena Ly, Ingrid Winship, John William Kelly

Journal article  |  2012  |  Journal of the American Academy of Dermatology

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A photographic essay of prolidase deficiency

Rebecca Dunn, George Varigos, Ingrid Winship

Journal article  |  2011  |  Clinical Dysmorphology

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Renal Tumors Associated With Germline SDHB Mutation Show Distinctive Morphology

Anthony J Gill, Nicholas S Pachter, Angela Chou, Barbara Young, Adele Clarkson, Katherine M Tucker, Ingrid M Winship, Peter Earls, Diana E Benn, Bruce G Robinson, Stewart Fleming, Roderick J Clifton-Bligh

Journal article  |  2011  |  The American Journal of Surgical Pathology

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OPTIMIZED PROTOCOL FOR ISOLATION OF SPINAL CORD MICROGLIA

Baskar SJ Jesudasan, K Dhami, I Winship, K Todd

Conference Proceedings  |  2011  |  GLIA

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William Sinclair Winship.

Ingrid Margaret Winship

Journal article  |  2011  |  South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde

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Metachronous colorectal cancer risk for mismatch repair gene mutation carriers: the advantage of more extensive colon surgery

Susan Parry, Aung Ko Win, Bryan Parry, Finlay A Macrae, Lyle C Gurrin, James M Church, John A Baron, Graham G Giles, Barbara A Leggett, Ingrid Winship, Lara Lipton, Graeme P Young, Joanne P Young, Caroline J Lodge, Melissa C Southey, Polly A Newcomb, Loic Le Marchand, Robert W Haile, Noralane M Lindor, Steven Gallinger, et al.

Journal article  |  2011  |  GUT

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Body mass index in early adulthood and colorectal cancer risk for carriers and non-carriers of germline mutations in DNA mismatch repair genes

AK Win, JG Dowty, DR English, PT Campbell, JP Young, I Winship, FA Macrae, L Lipton, S Parry, GP Young, DD Buchanan, ME Martinez, ET Jacobs, DJ Ahnen, RW Haile, G Casey, JA Baron, NM Lindor, SN Thibodeau, PA Newcomb, et al.

Journal article  |  2011  |  BRITISH JOURNAL OF CANCER

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Melanoma(s) arising in large segmental speckled lentiginous nevi: A case series

Lena Ly, Michael Christie, Sarah Swain, Ingrid Winship, John William Kelly

Journal article  |  2011  |  Journal of the American Academy of Dermatology

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Case report: renal cell carcinoma segregating with a t(2;3)(q37.3;q13.2) chromosomal translocation in an Ashkenazi Jewish family

L Mckay, M Frydenberg, L Lipton, F Norris, I Winship

Journal article  |  2011  |  Familial Cancer

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Immunohistochemistry to Detect Hereditary Nonpolyposis Colorectal Cancer in Young Patients: the 7-Year Auckland Experience

Deborah M Wright, Julie L Arnold, Bryan Parry, Michael Hulme-Moir, Ingrid M Winship, Susan Parry

Journal article  |  2011  |  Diseases of the Colon and Rectum

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Body Mass Index in Early Adulthood and Endometrial Cancer Risk for Mismatch Repair Gene Mutation Carriers

Aung Ko Win, James G Dowty, Yoland C Antill, Dallas R English, John A Baron, Joanne P Young, Graham G Giles, Melissa C Southey, Ingrid Winship, Lara Lipton, Susan Parry, Stephen N Thibodeau, Robert W Haile, Steven Gallinger, Loic Le Marchand, Noralane M Lindor, Polly A Newcomb, John L Hopper, Mark A Jenkins

Journal article  |  2011  |  OBSTETRICS AND GYNECOLOGY

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Morphological predictors of BRCA1 germline mutations in young women with breast cancer

MC Southey, SJ Ramus, JG Dowty, LD Smith, AA Tesoriero, EEM Wong, GS Dite, MA Jenkins, GB Byrnes, I Winship, K-A Phillips, GG Giles, JL Hopper

Journal article  |  2011  |  British Journal of Cancer

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Renal Tumors and Hereditary Pheochromocytoma-Paraganglioma Syndrome Type 4

Anthony J Gill, Nicholas S Pachter, Adele Clarkson, Katherine M Tucker, Ingrid M Winship, Diana E Benn, Bruce G Robinson, Roderick J Clifton-Bligh

Journal article  |  2011  |  New England Journal of Medicine

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Neurosurgical considerations in von Hippel-Lindau disease

MM Beitner, I Winship, KJ Drummond

Journal article  |  2011  |  Journal of Clinical Neuroscience

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Laser speckle contrast imaging of collateral blood flow during ischemic stroke

I Winship

Conference Proceedings  |  2011  |  JOURNAL OF VASCULAR RESEARCH

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How to Catch All Those Mutations-The Report of the Third Human Variome Project Meeting, UNESCO Paris, May 2010

Maija RJ Kohonen-Corish, Jumana Y Al-Aama, Arleen D Auerbach, Myles Axton, Carol Isaacson Barash, Inge Bernstein, Christophe Beroud, John Burn, Fiona Cunningham, Garry R Cutting, Johan T den Dunnen, Marc S Greenblatt, Jim Kaput, Michael Katz, Annika Lindblom, Finlay Macrae, Donna Maglott, Gabriela Moeslein, Sue Povey, Raj Ramesar, et al.

Journal article  |  2010  |  HUMAN MUTATION

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Array comparative genomic hybridization for the detection of submicroscopic copy number variations of the X chromosome in women with premature ovarian failure

TE Dudding, O Lawrence, I Winship, G Froyen, J Vandewalle, R Scott, AN Shelling

Journal article  |  2010  |  Human Reproduction

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Practical Guidelines Addressing Ethical Issues Pertaining to the Curation of Human Locus-Specific Variation Databases (LSDBs)

Sue Povey, Aida I Al Aqeel, Anne Cambon-Thomsen, Raymond Dalgleish, Johan T den Dunnen, Helen V Firth, Marc S Greenblatt, Carol Isaacson Barash, Michael Parker, George P Patrinos, Judith Savige, Maria-Jesus Sobrido, Ingrid Winship, Richard GH Cotton

Journal article  |  2010  |  Human Mutation

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A family with hereditary coproporphyria: The importance of genetic testing

A Rudd, V Morgan, J Bojovic, V Poulos, I Winship, G Varigos

Conference Proceedings  |  2010  |  AUSTRALASIAN JOURNAL OF DERMATOLOGY

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Risks of Lynch Syndrome Cancers for MSH6 Mutation Carriers

Laura Baglietto, Noralane M Lindor, James G Dowty, Darren M White, Anja Wagner, Encarna B Gomez Garcia, Annette HJT Vriends, Nicola R Cartwright, Rebecca A Barnetson, Susan M Farrington, Albert Tenesa, Heather Hampel, Daniel Buchanan, Sven Arnold, Joanne Young, Michael D Walsh, Jeremy Jass, Finlay Macrae, Yoland Antill, Ingrid M Winship, et al.

Journal article  |  2010  |  Journal of the National Cancer Institute

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A PALB2 mutation associated with high risk of breast cancer

Melissa C Southey, Zhi L Teo, James G Dowty, Fabrice A Odefrey, Daniel J Park, Marc Tischkowitz, Nelly Sabbaghian, Carmel Apicella, Graham B Byrnes, Ingrid Winship, Laura Baglietto, Graham G Giles, David E Goldgar, William D Foulkes, John L Hopper

Journal article  |  2010  |  Breast Cancer Research

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Hereditary renal cell carcinoma: the clue can be in the skin

M Harris, J Wallace, I Winship, L Hale, M Gardner

Journal article  |  2009  |  Internal Medicine Journal

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Antioxidant Effect of Warfarin Therapy: A Possible Symptomatic Treatment for Erythropoietic Protoporphyria

Ingrid Winship, Gayle Ross, Amanda Nicoll, Chris Hogan, Yoke Leong, George Varigos

Journal article  |  2009  |  Archives of Dermatology

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The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations

Leigha Senter, Mark Clendenning, Kaisa Sotamaa, Heather Hampel, Jane Green, John D Potter, Annika Lindblom, Kristina Lagerstedt, Stephen N Thibodeau, Noralane M Lindor, Joanne Young, Ingrid Winship, James G Dowty, Darren M White, John L Hopper, Laura Baglietto, Mark A Jenkins, Albert de la Chaple

Journal article  |  2008  |  Gastroenterology

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Towards more effective and equitable genetic testing for BRCA1 and BRCA2 mutation carriers

John L Hopper, James G Dowty, Carmel Apicella, Melissa C Southey, Graham G Giles, Ingrid Winship

Journal article  |  2008  |  Journal of Medical Genetics

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Familial breast cancer: double heterozygosity for BRCA1 and BRCA2 mutations with differing phenotypes

Margaret Smith, Susan Fawcett, Emanouil Sigalas, Richard Bell, Sophie Devery, Nikolina Andrieska, Ingrid Winship

Journal article  |  2008  |  Familial Cancer

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Cultural enhancement of a clinical service to meet the needs of indigenous people; genetic service development in response to issues for New Zealand Maori (vol 73, pg 132, 2008)

R Port, J Arnold, D Kerr, N Gravish, I Winship

Journal article  |  2008  |  Clinical Genetics

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Erratum: Cultural enhancement of a clinical service to meet the needs of indigenous people; genetic service development in response to issues for New Zealand Maori (Clinical Genetics (2008) vol. 73 (132-138))

RV Port, J Arnold, N Glavish, I Winship

Journal article  |  2008  |  Clinical Genetics

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Lessons from the skin - cutaneous features of familial cancer

Ingrid M Winship, Tracy E Dudding

Journal article  |  2008  |  The Lancet

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Cultural enhancement of a clinical service to meet the needs of indigenous people; genetic service development in response to issues for New Zealand Maori

RV Port, J Arnold, D Kerr, N Gravish, I Winship

Journal article  |  2008  |  Clinical Genetics

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Genome-wide association study identifies novel breast cancer susceptibility loci

Douglas F Easton, Karen A Pooley, Alison M Dunning, Paul DP Pharoah, Deborah Thompson, Dennis G Ballinger, Jeffery P Struewing, Jonathan Morrison, Helen Field, Robert Luben, Nicholas Wareham, Shahana Ahmed, Catherine S Healey, Richard Bowman, Kerstin B Meyer, Christopher A Haiman, Laurence K Kolonel, Brian E Henderson, Loic Le Marchand, Paul Brennan, et al.

Journal article  |  2007  |  Nature

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Polymorphism in intron 1 of the interferon-gamma gene influences both serum immunoglobulin E levels and the risk for chronic hepatitis B virus infection in polynesians

William Abbott, Edward Gane, Ingrid Winship, Stephen Munn, Colin Tukuitonga

Journal article  |  2007  |  Immunogenetics

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Mutational screening of FOXO3A and FOXO1A in women with premature ovarian failure

Wendy J Watkins, Alexandra J Umbers, Kathryn J Woad, Sarah E Harris, Ingrid M Winship, Ksenija Gersak, Andrew N Shelling

Journal article  |  2006  |  Fertility and Sterility

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Mutational analysis of BMP15 and GDF9 as candidate genes for premature ovarian failure

Ashwini L Chand, Anna P Ponnampalam, Sarah E Harris, Ingrid M Winship, Andrew N Shelling

Journal article  |  2006  |  Fertility and Sterility

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Confirming a diagnosis of hereditary colorectal cancer: the impact of a Familial Bowel Cancer Registry in New Zealand.

Paul James, Susan Parry, Julie Arnold, Ingrid Winship

Journal article  |  2006  |  New Zealand Medical Journal

AIMS: The optimal management of familial bowel cancer is thought to involve specialised familial cancer units and registries that ..

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Hyperplastic polyposis syndrome: Phenotypic presentations and the role of MBD4 and MYH

Elizabeth Chow, Lara Lipton, Elly Lynch, Rebecca D'Souza, Clelia Aragona, Lindy Hodgkin, Gregor Brown, Ingrid Winship, Melissa Barker, Daniel Buchanan, Shannon Cowie, Steve Nasioulas, Desiree du Sart, Joanne Young, Barbara Leggett, Jeremy Jass, Finlay Macrae

Journal article  |  2006  |  Gastroenterology

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Genetic diversity and linkage disequilibrium in the polynesian population of Niue Island

William GH Abbott, Ingrid M Winship, Edward J Gane, Sitaleki A Finau, Stephen R Munn, Colin F Tukuitonga

Journal article  |  2006  |  Human Biology

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Autosomal recessive Alport syndrome: an in-depth clinical and molecular analysis of five families

I Longo, E Scala, F Mari, R Caselli, C Pescucci, MA Mencarelli, C Speciale, M Giani, E Bresin, DA Caringella, ZU Borochowitz, K Siriwardena, I Winship, A Renieri, I Meloni

Journal article  |  2006  |  Nephrology, Dialysis, Transplantation

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Hereditary diffuse gastric cancer: Diagnosis and management

V Blair, I Martin, D Shaw, I Winship, D Kerr, J Arnold, P Harawira, M McLeod, S Parry, A Charlton, M Findlay, B Cox, B Humar, H More, P Guilford

Journal article  |  2006  |  Clinical Gastroenterology and Hepatology

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An investigation into FOXE1 polyalanine tract length in premature ovarian failure

WJ Watkins, SE Harris, MJ Craven, AL Vincent, IM Winship, K Gersak, AN Shelling

Journal article  |  2006  |  Molecular Human Reproduction

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The Colorectal Cancer Family Registry: An international resource for studying the genetic and molecular epidemiology of colorectal cancer

M JENKINS, F MACRAE, undefined Young, undefined Barker, undefined Leggett, undefined Goldblatt, undefined Kirk, undefined Tucker, undefined Suthers, undefined Young, undefined Parry, undefined Arnold, I WINSHIP, J MASKIELL, undefined Giles, undefined Jass, J HOPPER

Journal article  |  2006  |  Gastrointestinal Cancer Update

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INHA promoter polymorphisms are associated with premature ovarian failure

SE Harris, AL Chand, IM Winship, K Gersak, Y Nishi, T Yanase, H Nawata, AN Shelling

Journal article  |  2005  |  Molecular Human Reproduction

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Blepharocheilodontic syndrome or lagophthalmos: a child with overlapping features

I Winship, S Aftimos

Journal article  |  2005  |  Clinical Dysmorphology

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Controversies and ethical issues in cancer-genetics clinics

M Harris, I Winship, M Spriggs

Journal article  |  2005  |  Lancet Oncology

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Further case report of a child with a 9q34 deletion and a review of the reported cases

P Kannu, I Winship, S Aftimos

Journal article  |  2005  |  American Journal of Medical Genetics

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Asthma phenotypes in Niue Islanders

WGH Abbott, IM Winship, ML Wilsher, M Nilau, CF Tukuitonga

Journal article  |  2004  |  Respirology

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Autosomal dominant velopharyngeal insufficiency: father-to-son transmission confirmed

P Kannu, S Aftimos, I Winship

Journal article  |  2003  |  Clinical Genetics

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False-positive diagnosis of trisomy 21 using fluorescence in situ hybridisation (FISH) on uncultured amniotic fluid cells

AM George, P Oei, I Winship

Journal article  |  2003  |  Prenatal Diagnosis

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Paternal uniparental disomy in monozygotic twins discordant for hemihypertrophy

PMH West, DR Love, PM Stapleton, IM Winship

Journal article  |  2003  |  Journal of Medical Genetics

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Identification of novel mutations in FOXL2 associated with premature ovarian failure

SE Harris, AL Chand, IM Winship, K Gersak, K Aittomaki, AN Shelling

Journal article  |  2002  |  Molecular Human Reproduction

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Supernumerary marker chromosomes 5: confirmation of a critical region and resultant phenotype.

Loredana D'Amato Sizonenko, Daniel Ng, Paul Oei, Ingrid Winship

Journal article  |  2002  |  American Journal of Medical Genetics

A critical region exists at 5p13 for the phenotype associated with duplication 5p. Two unrelated Polynesian children are reported ..

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Supernumerary marker chromosomes 5: Confirmation of a critical region and resultant phenotype

LD Sizonenko, D Ng, P Oei, I Winship

Journal article  |  2002  |  American Journal of Medical Genetics

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Attitudes about genetic testing for breast cancer susceptibility: A survey of general practitioners, medical students, and women in the northern region of New Zealand

LD Cameron, J Reeve, A Readings, I WINSHIP

Journal article  |  2002  |  New Zealand Family Physician

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Novel germline CDH1 mutations in hereditary diffuse gastric cancer families

B Humar, T Toro, F Graziano, H Muller, Z Dobbie, H Kwang-Yang, C Eng, H Hampel, D Gilbert, I Winship, S Parry, R Ward, M Findlay, A Christian, M Tucker, K Tucker, T Merriman, P Guilford

Journal article  |  2002  |  Human Mutation

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Clinical phenotypes of nine cases of Kabuki syndrome from New Zealand

J McGaughran, S Aftimos, C Jefferies, I Winship

Journal article  |  2001  |  Clinical Dysmorphology

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Analysis of the TGF beta functional pathway in epithelial ovarian carcinoma

KM Francis-Thickpenny, DM Richardson, CC van Ee, DR Love, IM Winship, BC Baguley, G Chenevix-Trench, AN Shelling

Journal article  |  2001  |  British Journal of Cancer

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Clinical and molecular genetic features of pulmonary hypertension in patients with hereditary hemorrhagic telangiectasia

RC Trembath, JR Thomson, RD Machado, NV Morgan, C Atkinson, I Winship, G Simonneau, N Galie, JE Loyd, M Humbert, WC Nichols, NW Morrell, J Berg, A Manes, J McGaughran, M Pauciulo, L Wheeler

Journal article  |  2001  |  New England Journal of Medicine

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Marfanoid habitus, dysmorphic features, and web neck.

YC Lee, CJ Wilson, IM Winship, AG Veale

Journal article  |  2000  |  Southern Medical Journal

Bilateral pneumothoraces and aortic dilatation developed in a 25-year-old white man with marfanoid habitus, dysmorphic features, w..

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Inhibin: a candidate gene for premature ovarian failure

AN Shelling, KA Burton, AL Chand, CC van Ee, JT France, CM Farquhar, SR Milsom, DR Love, K Gersak, K Aittomaki, IM Winship

Journal article  |  2000  |  Human Reproduction

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Marfanoid habitus, dysmorphic features, and web neck

YCG Lee, CJ Wilson, IM Winship, AG Veale

Journal article  |  2000  |  Southern Medical Journal

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Sequence Variation within the RPGR Gene: Evidence for a Founder Complex Allele

Ilaria Zito, Alex Morris, Phil Tyson, Ingrid Winship, Dianne Sharp, Dale Gilbert, Dawn L Thiselton, Shomi S Bhattacharya, Alison J Hardcastle

Journal article  |  2000  |  Human Mutation

In our study of sequence variation within the RPGR gene associated with X-linked retinitis pigmentosa, we and others have observed..

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DNA microsatellite instability and mismatch repair protein loss in adenomas presenting in hereditary non-polyposis colorectal cancer

H Iino, L Simms, J Young, J Arnold, IM Winship, SI Webb, KL Furlong, B Leggett, JR Jass

Journal article  |  2000  |  Gut

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Autosomal translocation associated with premature ovarian failure.

KA Burton, CC Van Ee, K Purcell, I Winship, AN Shelling

Journal article  |  2000  |  Journal of Medical Genetics

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Null alleles at the Huntington disease locus: Implications for diagnostics and CAG repeat instability

LC Williams, MR Hegde, R Nagappan, RLM Faull, J Giles, I Winship, K Snow, DR Love

Journal article  |  2000  |  Genetic Testing

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Implications for employment in a patient with ocular albinism

D Ruttenberg, S Best, I Winship

Journal article  |  2000  |  Journal of Occupational Health and Safety - Australia and New Zealand

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Hierarchial mutation screening protocol for the BRCA1 gene

MR Hegde, B Chong, MJ Fawkner, J Leary, AN Shelling, B Culling, I Winship, DR Love

Journal article  |  2000  |  Human Mutation

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Psychological impact of predictive testing for colonic cancer

J Reeve, RG Owens, IM Winship

Journal article  |  2000  |  Journal of Health Psychology

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X-linked late-onset sensorineural deafness caused by a deletion involving OA1 and a novel gene containing WD-40 repeats

MT Bassi, RS Ramesar, B Caciotti, IM Winship, A De Grandi, M Riboni, PL Townes, P Beighton, A Ballabio, G Borsani

Journal article  |  1999  |  The American Journal of Human Genetics

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A patient with VACTERL association, amelia and hemifacial microsomia

S Aftimos, I Winship

Journal article  |  1999  |  Clinical Dysmorphology

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Clinical and molecular aspects of Gaucher disease in New Zealand

MJ Woodfield, DG Woodfield, IM Winship

Journal article  |  1997  |  New Zealand Medical Journal

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Mixed epithelial polyps in association with hereditary non-polyposis colorectal cancer providing an alternative pathway of cancer histogenesis

JR Jass, DS Cottier, V Pokos, S Parry, IM Winship

Journal article  |  1997  |  Pathology

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Colorectal neoplasms detected colonoscopically in at-risk members of colorectal cancer families stratified by the demonstration of DNA microsatellite instability

JR Jass, V Pokos, JL Arnold, DS Cottier, P Jeevaratnam, NS VandeWater, PJ Browett, IM Winship, MR Lane

Journal article  |  1996  |  Journal of Molecular Medicine

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Impact of molecular genetics on the management of familial adenomatous polyposis

JR Jass, JL Arnold, IM Winship

Journal article  |  1996  |  The New Zealand medical journal

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Current issues in the management of hereditary nonpolyposis colorectal cancer

JR Jass, V Pokos, IM Winship

Journal article  |  1996  |  The New Zealand medical journal

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Molecular analysis of the Huntington's disease gene in New Zealand

JE Whitefield, L Williams, K Snow, J Dixon, I Winship, PM Stapleton, RM Faull, DR Love

Journal article  |  1996  |  New Zealand Medical Journal

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LOCUS HETEROGENEITY FOR WAARDENBURG SYNDROME IS PREDICTIVE OF CLINICAL SUBTYPES

LA FARRER, KS ARNOS, JH ASHER, CT BALDWIN, SR DIEHL, TB FRIEDMAN, J GREENBERG, KM GRUNDFAST, C HOTH, AK LALWANI, B LANDA, K LEVERTON, A MILUNSKY, R MORELL, WE NANCE, V NEWTON, R RAMESAR, VS RAO, JE REYNOLDS, TB SANAGUSTIN, et al.

Journal article  |  1994  |  American Journal of Human Genetics

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GENETIC-LINKAGE TO THE TYPE-VII COLLAGEN GENE (COL7A1) IN 26 FAMILIES WITH GENERALIZED RECESSIVE DYSTROPHIC EPIDERMOLYSIS-BULLOSA AND ANCHORING FIBRIL ABNORMALITIES

MGS DUNNILL, AJ RICHARDS, G MILANA, F MOLLICA, D ATHERTON, I WINSHIP, M FARRALL, L ALIMARA, RAJ EADY, FM POPE

Journal article  |  1994  |  Journal of Medical Genetics

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A SPLICE JUNCTION MUTATION IN PAX3 CAUSES WAARDENBURG SYNDROME IN A SOUTH-AFRICAN FAMILY

J BUTT, J GREENBERG, I WINSHIP, S SELLARS, P BEIGHTON, R RAMESAR

Journal article  |  1994  |  Human Molecular Genetics

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X-LINKED OCULAR ALBINISM AND SENSORINEURAL DEAFNESS - LINKAGE TO XP22.3

IM WINSHIP, M BABAYA, RS RAMESAR

Journal article  |  1993  |  Genomics

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LOCUS HETEROGENEITY FOR WAARDENBURG SYNDROME IS NOT PREDICTIVE OF CLINICAL SUBTYPES

LA FARRER, JH ASHER, CT BALDWIN, TB FRIEDMAN, J GREENBERG, KM GRUNDFAST, AK LALWANI, A MILUNSKY, R MORELL, V NEWTON, R RAMESAR, VS RAO, TBS AGUSTIN, ER WILCOX, I WINSHIP, AP READ

Conference Proceedings  |  1993  |  AMERICAN JOURNAL OF HUMAN GENETICS

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Radial ray defect and Robin sequence: a new syndrome?

A Bruce, I Winship

Journal article  |  1993  |  Clinical Dysmorphology

We report an infant with the principal features of bilateral radial defects, club foot deformity, micrognathia and cleft palate. O..

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WAARDENBURG SYNDROME (WS) TYPE-I IS CAUSED BY DEFECTS AT MULTIPLE LOCI, ONE OF WHICH IS NEAR ALPP ON CHROMOSOME-2 - 1ST REPORT OF THE WS CONSORTIUM

LA FARRER, KM GRUNDFAST, J AMOS, KS ARNOS, JH ASHER, P BEIGHTON, SR DIEHL, J FEX, C FOY, TB FRIEDMAN, J GREENBERG, C HOTH, M MARAZITA, A MILUNSKY, R MORELL, W NANCE, V NEWTON, R RAMESAR, TB SANAGUSTIN, J SKARE, et al.

Journal article  |  1992  |  American Journal of Human Genetics

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PHENOTYPIC DISCRIMINANTS IN THE WAARDENBURG SYNDROME

I WINSHIP, P BEIGHTON

Journal article  |  1992  |  Clinical Genetics

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PROFOUND CHILDHOOD DEAFNESS IN SOUTHERN AFRICA

P BEIGHTON, D VILJOEN, I WINSHIP, G BEIGHTON, S SELLARS

Conference Proceedings  |  1991  |  Annals of the New York Academy of Sciences

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HEARING IMPAIRMENT AND PIGMENTARY DISTURBANCE

P BEIGHTON, R RAMESAR, I WINSHIP, D VILJOEN, J GREENBERG, K YOUNG, D CURTIS, S SELLARS

Conference Proceedings  |  1991  |  Annals of the New York Academy of Sciences

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PRIMARY OXALOSIS - AN UNUSUAL CAUSE OF LIVEDO-RETICULARIS

IM WINSHIP, NP SAXE, H HUGEL

Journal article  |  1991  |  Clinical and Experimental Dermatology

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MICROCEPHALY-CARDIOMYOPATHY - A NEW AUTOSOMAL RECESSIVE PHENOTYPE

IM WINSHIP, DL VILJOEN, PM LEARY, MM DEMOOR

Journal article  |  1991  |  Journal of Medical Genetics

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PIEBALDISM - AN AUTONOMOUS AUTOSOMAL DOMINANT ENTITY

I WINSHIP, K YOUNG, R MARTELL, R RAMESAR, D CURTIS, P BEIGHTON

Journal article  |  1991  |  Clinical Genetics

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WAARDENBURG SYNDROME IS CAUSED BY DEFECTS AT MULTIPLE LOCI, ONE OF WHICH IS TIGHTLY LINKED TO ALPP ON CHROMOSOME-2 - 1ST REPORT OF THE WS CONSORTIUM

L FARRER, K GRUNDFAST, J AMOS, KS ARNOS, J ASHER, P BEIGHTON, S DIEHL, J FEX, C FOY, T FRIEDMAN, J GREENBERG, C HOTH, A MILUNSKY, R MORELL, W NANCE, V NEWTON, R RAMESAR, A READ, J SKARE, TS AUGUSTIN, et al.

Conference Proceedings  |  1991  |  CYTOGENETICS AND CELL GENETICS

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BOOMERANG DYSPLASIA

I WINSHIP, B CREMIN, P BEIGHTON

Journal article  |  1990  |  American Journal of Medical Genetics

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GENETIC-HETEROGENEITY IN TUBEROUS SCLEROSIS - PHENOTYPIC CORRELATIONS

IM WINSHIP, JM CONNOR, PH BEIGHTON

Journal article  |  1990  |  Journal of Medical Genetics

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EPIDERMOLYSIS-BULLOSA IN SOUTH-AFRICA - FORMATION OF A NATIONAL REGISTRY

IM WINSHIP

Conference Proceedings  |  1990  |  EPIDERMOLYSIS BULLOSA : A COMPREHENSIVE REVIEW OF CLASSIFICATION, MANAGEMENT AND LABORATORY STUDIES

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HIDDEN INCREASES

I WINSHIP

Journal article  |  1989  |  Nature

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EVIDENCE FOR GENETIC-HETEROGENEITY IN TUBEROUS SCLEROSIS

JR SAMPSON, JRW YATES, LA PIRRIT, P FLEURY, I WINSHIP, P BEIGHTON, JM CONNOR

Journal article  |  1989  |  Journal of Medical Genetics

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TUBEROUS SCLEROSIS - EVIDENCE FOR GENETIC-HETEROGENEITY WITH ONE LOCUS ON 9Q

JR SAMPSON, JRW YATES, LA PIRRIT, P FLEURY, I WINSHIP, P BEIGHTON, JM CONNOR

Conference Proceedings  |  1989  |  CYTOGENETICS AND CELL GENETICS

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EPIDERMOLYSIS BULLOSA MISDIAGNOSED AS CHILD-ABUSE - A REPORT OF 3 CASES

IM WINSHIP, WS WINSHIP

Journal article  |  1988  |  South African Medical Journal

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INTERNATIONAL NOSOLOGY OF HERITABLE DISORDERS OF CONNECTIVE-TISSUE, BERLIN, 1986

P BEIGHTON, A DEPAEPE, D DANKS, G FINIDORI, T GEDDEDAHL, R GOODMAN, JG HALL, DW HOLLISTER, W HORTON, VA MCKUSICK, JM OPITZ, FM POPE, RE PYERITZ, DL RIMOIN, D SILLENCE, JW SPRANGER, E THOMPSON, P TSIPOURAS, D VILJOEN, I WINSHIP, et al.

Journal article  |  1988  |  American Journal of Medical Genetics

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MOLECULAR-GENETICS AND HUNTINGTONS-DISEASE - THE SOUTH-AFRICAN SITUATION

MR HAYDEN, J GOLDBLATT, G WALLIS, IM WINSHIP, P BEIGHTON

Journal article  |  1987  |  South African Medical Journal

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OCCULT LIFE-THREATENING STREPTOCOCCAL SEPTICEMIA IN THE ELDERLY - A REPORT OF 2 CASES

GD GORDON, IM WINSHIP, J GOLDBLATT

Journal article  |  1986  |  South African Medical Journal

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EPIDERMOLYSIS-BULLOSA IN SOUTH-AFRICA

I WINSHIP

Journal article  |  1986  |  South African Medical Journal

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EPIDERMOLYSIS-BULLOSA IN SOUTHERN-AFRICA - A NATIONWIDE SURVEY

IM WINSHIP

Conference Proceedings  |  1986  |  JOURNAL OF MEDICAL GENETICS

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EPIDERMOLYSIS BULLOSA IN SOUTH-AFRICA

I WINSHIP

Journal article  |  1985  |  SOUTH AFRICAN MEDICAL JOURNAL

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EHLERS-DANLOS SYNDROME IN THE WESTERN CAPE

IM WINSHIP

Journal article  |  1985  |  South African Medical Journal

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THE OCULAR FORM OF OSTEOGENESIS IMPERFECTA - A NEW AUTOSOMAL RECESSIVE SYNDROME

P BEIGHTON, I WINSHIP, D BEHARI

Journal article  |  1985  |  Clinical Genetics

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SOTOS SYNDROME - AUTOSOMAL DOMINANT INHERITANCE SUBSTANTIATED

IM WINSHIP

Journal article  |  1985  |  Clinical Genetics

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X-LINKED INHERITANCE OF OCULAR ALBINISM WITH LATE-ONSET SENSORINEURAL DEAFNESS

I WINSHIP, G GERICKE, P BEIGHTON

Journal article  |  1984  |  American Journal of Medical Genetics

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Keyword Analysis

Clinical Health (organs, Diseases and Abnormal Conditions)
Oncology and Carcinogenesis
Clinical Sciences
Public Health and Health Services
Clinical (organs, Diseases and Abnormal Conditions)
Specific Population Health (excl. Indigenous Health)
Genetics
Health and Support Services
Expanding Knowledge
Public Health (excl. Specific Population Health)

News

Displaying the most recent news article by Ingrid Winship.

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Precision medicine offers the hope of cures made just for you

Ingrid Winship, Timothy Smith

January 29, 2015

1

News Articles

Honours, Awards and Fellowships

2020

Officer of the Order of Australia

1998

Clinical Geneticist

Human Genetics Society of Australasia
2017

FAICD - Fellow of the Australian Institute of Company Directors

2008

FACD - Fellow of the Australasian College of Dermatologists

2002

FRACP - Fellow of the Royal Australasian College of Physicians

5

Awards

Credentials

Positions

Chair In Adult Clinical Genetics

Medicine - Royal Melbourne Hospital

Education

Doctor of Medicine

University of Cape Town

MBChB

University of Cape Town

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