Ingrid Winship

Update of penetrance estimates in Birt-Hogg-Dubé syndrome.

Fiona Jane Bruinsma, James G Dowty, Aung Ko Win, Laura C Goddard, Prachi Agrawal, Domenico Attina', Nabil Bissada, Monica De Luise, Daniel B Eisen, Mitsuko Furuya, Giuseppe Gasparre, Maurizio Genuardi, Anne-Marie Gerdes, Thomas Van Overeem Hansen, Arjan C Houweling, Paul Christiaan Johannesma, André Lencastre, Derek Lim, Noralane M Lindor, Valentina Luzzi, et al.

Journal article  |  2023  |  J Med Genet

BACKGROUND: Birt-Hogg-Dubé (BHD) syndrome is a rare genetic syndrome caused by pathogenic or likely pathogenic germline variants i..

Dermatologic manifestations and diagnostic assessments of the Ehlers-Danlos syndromes: A clinical review.

Brent J Doolan, Mark Lavallee, Ingrid Hausser, F Michael Pope, Suranjith L Seneviratne, Ingrid M Winship, Nigel P Burrows

Journal article  |  2023  |  J Am Acad Dermatol

BACKGROUND: The Ehlers-Danlos syndromes (EDS) comprise a group of connective tissue disorders that manifest with skin hyperextensi..

The role of cutaneous manifestations in the diagnosis of the Ehlers-Danlos syndromes.

Natasha Stembridge, Brent J Doolan, Mark E Lavallee, Ingrid Hausser, F Michael Pope, Suranjith L Seneviratne, Ingrid M Winship, Nigel P Burrows

Journal article  |  2023  |  Skin Health Dis

The Ehlers-Danlos syndromes (EDS) comprise a group of inherited connective tissue disorders presenting with features of skin hyper..

Evaluating Multiple Next-Generation Sequencing-Derived Tumor Features to Accurately Predict DNA Mismatch Repair Status.

Romy Walker, Peter Georgeson, Khalid Mahmood, Jihoon E Joo, Enes Makalic, Mark Clendenning, Julia Como, Susan Preston, Sharelle Joseland, Bernard J Pope, Ryan A Hutchinson, Kais Kasem, Michael D Walsh, Finlay A Macrae, Aung K Win, John L Hopper, Dmitri Mouradov, Peter Gibbs, Oliver M Sieber, Dylan E O'Sullivan, et al.

Journal article  |  2023  |  J Mol Diagn

Identifying tumor DNA mismatch repair deficiency (dMMR) is important for precision medicine. Tumor features, individually and in c..

The CRISP Trial: RCT of a decision support tool for risk-stratified colorectal cancer screening

Jon Emery, Mark A Jenkins, Sibel Saya, Patty Chondros, Jasmeen Oberoi, Shakira Milton, Kitty Novy, Emily Habgood, Napin Karnchanachari, Marie Pirotta, Lyndal Trevena, Adrian Bickerstaffe, Richard de Abreu Lourenco, Crothers Anna, Driss Ait Ouakrim, Louisa Flander, James G Dowty, Fiona M Walter, Malcolm Clark, Sally Doncovio, et al.

Journal article  |  2023  |  British Journal of General Practice

Background: A risk-stratified approach to colorectal cancer (CRC) screening could result in more acceptable balance of benefits an..

Extracutaneous features and complications of the Ehlers-Danlos syndromes: A systematic review.

Brent J Doolan, Mark E Lavallee, Ingrid Hausser, Jane R Schubart, F Michael Pope, Suranjith L Seneviratne, Ingrid M Winship, Nigel P Burrows

Journal article  |  2023  |  Front Med (Lausanne)

INTRODUCTION: The Ehlers-Danlos syndromes (EDS) comprise a group of inherited connective tissue disorders presenting with variable..

Psychiatric genetic counseling: A survey of Australian genetic counselors' practice and attitudes

Joanne Isbister, Adrienne Sexton, Laura E Forrest, Paul James, James Dowty, Jessica Taylor, Jehannine Austin, Ingrid Winship

Journal article  |  2022  |  JOURNAL OF GENETIC COUNSELING

Genetic counseling plays a critical role in supporting individuals and their families' adaption to psychiatric conditions, address..

Public willingness to participate in population DNA screening in Australia.

Jane M Tiller, Andrew Bakshi, Adam R Brotchie, Robert C Green, Ingrid M Winship, Paul Lacaze

Journal article  |  2022  |  J Med Genet

BACKGROUND: Population-based DNA screening for medically actionable conditions has the potential to improve public health by enabl..

Body Mass Index, sex, non-steroidal anti-inflammatory drug medications, smoking and alcohol are differentially associated with World Health Organisation criteria and colorectal cancer risk in people with Serrated Polyposis Syndrome: an Australian case-control study.

Emma Anthony, Jeanette C Reece, Elasma Milanzi, Jihoon E Joo, Sharelle Joseland, Mark Clendenning, Amanda Whelan, Susan Parry, Julie Arnold, Varnika Vijay, Nathan Atkinson, John L Hopper, Aung K Win, Mark A Jenkins, Finlay A Macrae, Ingrid M Winship, Christophe Rosty, Daniel D Buchanan, undefined Australasian Coloretal Cancer Family Registry, undefined Family Cancer Clinics of Australia, et al.

Journal article  |  2022  |  BMC Gastroenterol

OBJECTIVE: The unknown aetiology of Serrated Polyposis Syndrome (SPS) impedes risk prediction and prevention. We investigated risk..

Health professionals' views and experiences of the Australian moratorium on genetic testing and life insurance: A qualitative study.

Grace Dowling, Jane Tiller, Aideen McInerney-Leo, Andrea Belcher, Casey Haining, Kristine Barlow-Stewart, Tiffany Boughtwood, Penny Gleeson, Martin B Delatycki, Ingrid Winship, Margaret Otlowski, Chris Jacobs, Louise Keogh, Paul Lacaze

Journal article  |  2022  |  Eur J Hum Genet

Australian life insurance companies can legally use genetic test results in underwriting, which can lead to genetic discrimination..