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List of works by Ingrid Winship

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

article

A PALB2 mutation associated with high risk of breast cancer

scientific article

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

scientific article published in June 2016

A funding model for public-good clinical trials.

scientific article published in July 2013

A photographic essay of prolidase deficiency ⬇️

scientific article published on October 1, 2011

A splice junction mutation in PAX3 causes Waardenburg syndrome in a South African family

scientific article published on 01 January 1994

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

scientific article

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

scientific article published on 17 June 2019

An investigation into FOXE1 polyalanine tract length in premature ovarian failure.

scientific article

Antioxidant effect of warfarin therapy: a possible symptomatic treatment for erythropoietic protoporphyria

scientific article published in August 2009

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

scientific article published on 22 February 2013

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

scientific article published on 16 October 2010

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

scientific article

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

scientific article published on 24 March 2018

Asthma phenotypes in Niue Islanders

scientific article published in November 2004

Author reply

scientific article published on 01 October 2014

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

article

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

scientific article

Blepharocheilodontic syndrome or lagophthalmos: a child with overlapping features

scientific article published on 01 July 2005

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

scientific article

Body mass index in early adulthood and endometrial cancer risk for mismatch repair gene mutation carriers

scientific article

Boomerang dysplasia

Cancer Risks for PMS2-Associated Lynch Syndrome

scientific article published on 30 August 2018

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

scientific article published on 24 July 2019

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

scientific article published on 5 May 2016

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

scientific article

Clinical predictors of genetic testing outcomes in hypertrophic cardiomyopathy

scientific article

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

scientific article published on 21 March 2012

Colorectal and other cancer risks for carriers and noncarriers from families with a DNA mismatch repair gene mutation: a prospective cohort study

scientific article published on 13 February 2012

Colorectal cancer linkage on chromosomes 4q21, 8q13, 12q24, and 15q22.

scientific article

Consent Processes for Mobile App Mediated Research: Systematic Review

scientific article published on 30 August 2017

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

scientific article published on 20 July 2020

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

scientific article published on 6 November 2012

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

scientific article

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

scientific article

Deficiency in complement factor B.

scientific article published in October 2013

Dermatitis artefacta presenting as a recurrent skin eruption in a patient with 1p36 deletion syndrome

scientific article published in February 2014

FSH receptor gene variants are rarely associated with premature ovarian failure.

scientific article published on 19 January 2013

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

scientific article published on 01 April 2003

Familial SDHA mutation associated with pituitary adenoma and pheochromocytoma/paraganglioma

scientific article published on 30 April 2013

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

scientific article published on 17 July 2007

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

scientific article

Family history of colorectal cancer in BRAF p.V600E-mutated colorectal cancer cases

scientific article

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

article

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

scientific article

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

scientific article published on 6 March 2015

Fertility and apparent genetic anticipation in Lynch syndrome

scientific article

Fertility management after breast cancer diagnosis: a qualitative investigation of women's experiences of and recommendations for professional care

scientific article published in January 2013

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

article

Gene panel testing for hereditary breast cancer

article

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

scientific article

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

scientific article

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

scientific article published on 19 February 2016

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

scientific article published on 01 September 2014

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

scientific article published in July 2014

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

scientific article published on 01 December 2009

Heterogeneity in the psychosocial and behavioral responses associated with a diagnosis of suspected Lynch syndrome in women with endometrial cancer

scientific article published on 15 July 2022

Hierarchical mutation screening protocol for the BRCA1 gene

scientific article published on 01 November 2000

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

scientific article

How to catch all those mutations--the report of the third Human Variome Project Meeting, UNESCO Paris, May 2010.

scientific article

Hyperplastic polyposis syndrome: phenotypic presentations and the role of MBD4 and MYH.

scientific article

INHA promoter polymorphisms are associated with premature ovarian failure

scientific article published on 01 November 2005

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

scientific article published on 01 May 2011

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

scientific article published on 29 March 2015

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

scientific article

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

scientific article published on 15 August 2015

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

scientific article

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

scientific article published on 8 February 2018

Is cardiac rhabdomyoma a feature of Birt Hogg Dubé syndrome?

scientific article published on 05 February 2015

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

scientific article published on 28 February 2019

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

scientific article published on 31 August 2016

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

scientific article published on 31 March 2019

Lynch syndrome and cervical cancer

scientific article

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

scientific article published on 30 December 2014

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

article

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

scientific article

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

scientific article published on 14 February 2020

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

scientific article published on 01 February 1997

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

scientific article

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

scientific article

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

scientific article

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

scientific article published on 10 April 2016

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

scientific article

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

scientific article

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

scientific article

Neurosurgical considerations in von Hippel-Lindau disease.

scientific article published on 06 January 2011

Novel germlineCDH1mutations in hereditary diffuse gastric cancer families

article

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

scientific article published on January 2000

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

scientific article published on July 2015

PALB2 and breast cancer: ready for clinical translation!

scientific article published on 19 July 2013

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

scientific article published in December 2016

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

scientific article

Phenotype in novel Xp duplication

scientific article published on 07 August 2012

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

scientific article published on 9 January 2007

Practical guidelines addressing ethical issues pertaining to the curation of human locus-specific variation databases (LSDBs)

scientific article (publication date: November 2010)

Precision medicine: are we there?

scientific article published on 01 August 2015

Predictive genetic testing of a bone marrow recipient-ethical issues involving unexpected results, gender issues, test accuracy, and implications for the donor

scientific article published on 30 August 2013

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

scientific article published on 28 February 2013

Primary oxalosis-an unusual cause of livedo reticularis

scientific article published on 01 September 1991

Profound childhood deafness in southern Africa

scientific article published in January 1991

Randomized controlled trial of a telephone-based peer-support program for women carrying a BRCA1 or BRCA2 mutation: impact on psychological distress

scientific article published on 17 November 2014

Re: Microsatellite instability and BRAF mutation testing in colorectal cancer prognostication

scientific article published on 11 August 2014

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

scientific article

Renal Tumors and Hereditary Pheochromocytoma-Paraganglioma Syndrome Type 4

scientific article published on 01 March 2011

Renal angiomyolipoma in Birt-Hogg-Dube syndrome: A case study supporting overlap with tuberous sclerosis complex

scientific article published on 19 September 2016

Renal tumors associated with germline SDHB mutation show distinctive morphology.

scientific article published in October 2011

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

scientific article

Risk of colorectal cancer for carriers of mutations in MUTYH, with and without a family history of cancer

scientific article published on 17 January 2014

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

scientific article

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

scientific article published on 19 May 2016

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

scientific article published on 18 July 2020

Risk-reducing hysterectomy and bilateral salpingo-oophorectomy in female heterozygotes of pathogenic mismatch repair variants: a Prospective Lynch Syndrome Database report

scientific article published on 01 December 2020

Risks of Lynch syndrome cancers for MSH6 mutation carriers

scientific article

Risks of colorectal and other cancers after endometrial cancer for women with Lynch syndrome

scientific article published on 5 February 2013

Risks of primary extracolonic cancers following colorectal cancer in lynch syndrome

scientific article

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

scientific article published on 7 June 2016

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

scientific article

Screening practices of unaffected people at familial risk of colorectal cancer

scientific article published on 26 October 2011

Should the grading of colorectal adenocarcinoma include microsatellite instability status?

scientific article published on 17 July 2014

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

scientific article

Succinate dehydrogenase deficiency is rare in pituitary adenomas

scientific article published on April 2014

Sudden unexpected death, epilepsy and familial cardiac pathology.

scientific article published on 17 July 2015

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

scientific article

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

scientific article published on 14 October 2019

Systematic review of quality improvement interventions directed at cancer specialists

scientific article published on 25 March 2013

The Impact of a Comprehensive Risk Prediction Model for Colorectal Cancer on a Population Screening Program

scientific article published on 18 July 2020

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

scientific article

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

scientific article published on 31 January 2017

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

scientific article published on September 11, 2013

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

scientific article published on 03 January 2019

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

scientific article

The utility of genetics in inherited cancer

scientific article published in November 2013

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

scientific article published on 2 May 2008

Tumour morphology predicts PALB2 germline mutation status

scientific article published on 20 June 2013

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

scientific article published in September 2013

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

scientific article published on February 2012

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

scientific article published on March 2015

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

article

X-linked inheritance of ocular albinism with late-onset sensorineural deafness

scientific article published in December 1984

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

scientific article

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

scientific article published on 07 March 2011

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