Ingrid Winship

A novel candidate gene in autosomal dominant facial pruritus.

BA Thompson, K Dear, E Donaldson, R Nixon, IM Winship

Journal article  |  2021  |  Clin Exp Dermatol

Pruritus is a common and often debilitating symptom that is associated with dermatological conditions including eczema, allergic c..

Informed choice and attitudes regarding a genomic test to predict risk of colorectal cancer in general practice.

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

Journal article  |  2021  |  Patient Educ Couns

OBJECTIVE: A genomic test to predict personal risk of colorectal cancer (CRC) that targets screening and could be feasibly impleme..

Intent vs. impact: Calling time on outdated phenotypic labels in dermatology.

IM Winship, D Bajwa, N Rajan

Journal article  |  2021  |  Br J Dermatol

Active social justice movements are exposing the structural disempowerment of minority groups throughout Western societies, includ..

Multifocal extracardiac rhabdomyomas: extending the phenotype of Birt-Hogg-Dube syndrome

DS Bajwa, S Cook, R Winn, IM Winship, A McQueen, A Husain, N Rajan

Journal article  |  2021  |  BRITISH JOURNAL OF DERMATOLOGY

Birt-Hogg-Dubé (BHD) syndrome is characterised by a triad of benign skin tumours, pulmonary cysts with an attendant risk of pneumo..

Genomic Risk Prediction for Breast Cancer in Older Women

Paul Lacaze, Andrew Bakshi, Moeen Riaz, Suzanne G Orchard, Jane Tiller, Johannes T Neumann, Prudence R Carr, Amit D Joshi, Yin Cao, Erica T Warner, Alisa Manning, Tu Nguyen-Dumont, Melissa C Southey, Roger L Milne, Leslie Ford, Robert Sebra, Eric Schadt, Lucy Gately, Peter Gibbs, Bryony A Thompson, et al.

Journal article  |  2021  |  CANCERS

Genomic risk prediction models for breast cancer (BC) have been predominantly developed with data from women aged 40-69 years. Pro..

Variation in the risk of colorectal cancer in families with Lynch syndrome: a retrospective cohort study

Mark A Jenkins

Journal article  |  2021  |  LANCET ONCOLOGY

BACKGROUND: Existing clinical practice guidelines for carriers of pathogenic variants of DNA mismatch repair genes (Lynch syndrome..

No Difference in Penetrance between Truncating and Missense/Aberrant Splicing Pathogenic Variants in MLH1 and MSH2: A Prospective Lynch Syndrome Database Study

Mev Dominguez-Valentin, John-Paul Plazzer, Julian R Sampson, Christoph Engel, Stefan Aretz, Mark A Jenkins, Lone Sunde, Inge Bernstein, Gabriel Capella, Francesc Balaguer, Finlay Macrae, Ingrid M Winship, Huw Thomas, Dafydd Gareth Evans, John Burn, Marc Greenblatt, Wouter H de Vos Tot Nederveen Cappel, Rolf H Sijmons, Maartje Nielsen, Lucio Bertario, et al.

Journal article  |  2021  |  JOURNAL OF CLINICAL MEDICINE

BACKGROUND: Lynch syndrome is the most common genetic predisposition for hereditary cancer. Carriers of pathogenic changes in mism..

Translation of a circulating miRNA signature of melanoma into a solid tissue assay to improve diagnostic accuracy and precision

Ryan Van Laar, Samuel King, Richard McCoy, Mirette Saad, Sian Fereday, Ingrid Winship, Catherine Uzzell, Anthony Landgren

Journal article  |  2021  |  BIOMARKERS IN MEDICINE

Aim: Successful treatment of cutaneous melanoma depends on early and accurate diagnosis of clinically suspicious melanocytic skin ..

Genetic variants associated with inherited cardiovascular disorders among 13,131 asymptomatic older adults of European descent

Paul Lacaze, Robert Sebra, Moeen Riaz, Jodie Ingles, Jane Tiller, Bryony A Thompson, Paul A James, Diane Fatkin, Christopher Semsarian, Christopher M Reid, Andrew M Tonkin, Ingrid Winship, Eric Schadt, John J McNeil

Journal article  |  2021  |  NPJ GENOMIC MEDICINE

Genetic testing is used to optimise the management of inherited cardiovascular disorders that can cause sudden cardiac death. Yet ..

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

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

Journal article  |  2021  |  Am J Prev Cardiol

Introduction: Familial hypercholesterolaemia (FH) is a common, heritable and preventable cause of premature coronary artery diseas..