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

Clinical genetics, 2014-04, Vol.85 (4), p.312-317

2014

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Intent vs. impact: calling time on outdated phenotypic labels in dermatology

British journal of dermatology (1951), 2022-01, Vol.186 (1), p.174-175

2022

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Identification of novel mutations in FOXL2 associated with premature ovarian failure

Molecular human reproduction, 2002-08, Vol.8 (8), p.729-733

2002

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

Gut, 2000-07, Vol.47 (1), p.37-42

2000

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Multifocal extracardiac rhabdomyomas: extending the phenotype of Birt–Hogg–Dubé syndrome

British journal of dermatology (1951), 2021-10, Vol.185 (4), p.861-863

2021

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A novel candidate gene in autosomal dominant facial pruritus

Clinical and experimental dermatology, 2022-01, Vol.47 (1), p.184-186

2022

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Phenotypic discordance between siblings with junctional epidermolysis bullosa–pyloric atresia

Clinical and experimental dermatology, 2020-08, Vol.45 (6), p.793-795

2020

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

Familial cancer, 2018-10, Vol.17 (4), p.601-606

2018

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

Colorectal disease, 2015-09, Vol.17 (9), p.787-793

2015

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X-Linked Late-Onset Sensorineural Deafness Caused by a Deletion Involving OA1 and a Novel Gene Containing WD-40 Repeats

American journal of human genetics, 1999-06, Vol.64 (6), p.1604-1616

1999

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Analysis of the TGFβ functional pathway in epithelial ovarian carcinoma

British journal of cancer, 2001-09, Vol.85 (5), p.687-691

2001

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Paternal uniparental disomy in monozygotic twins discordant for hemihypertrophy

Journal of medical genetics, 2003-03, Vol.40 (3), p.223-226

2003

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

Pathology, 1997-02, Vol.29 (1), p.28-33

1997

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Inhibin: a candidate gene for premature ovarian failure

Human reproduction (Oxford), 2000-12, Vol.15 (12), p.2644-2649

2000

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

Journal of molecular medicine (Berlin, Germany), 1996-09, Vol.74 (9), p.547-551

1996

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X-Linked Ocular Albinism and Sensorineural Deafness: Linkage to Xp22.3

Genomics (San Diego, Calif.), 1993-11, Vol.18 (2), p.444-445

1993

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Genetic heterogeneity in tuberous sclerosis: phenotypic correlations

Journal of medical genetics, 1990-07, Vol.27 (7), p.418-421

1990

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

Familial cancer, 2018-10, Vol.17 (4), p.601-606

2018

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Primary oxalosis-an unusual cause of livedo reticularis

Clinical and experimental dermatology, 1991-09, Vol.16 (5), p.367-370

1991

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Psychological Impact of Predictive Testing for Colonic Cancer

Journal of health psychology, 2000-01, Vol.5 (1), p.99-108

2000

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Clinical and molecular aspects of Gaucher disease in New Zealand

New Zealand medical journal, 1997-08, Vol.110 (1050), p.316

1997

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Sotos syndrome - autosomal dominant inheritance substantiated

Clinical genetics, 1985-09, Vol.28 (3), p.243-246

Winship, Ingrid M.

1985

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Epidermolysis bullosa misdiagnosed as child abuse - a report of 3 cases

South African medical journal, 1988-03, Vol.73 (6), p.369-370

Winship, I.M. & Winship, W.S.

1988

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Impact of molecular genetics on the management of familial adenomatous polyposis

New Zealand medical journal, 1996-08, Vol.109 (1027), p.285

1996

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Current issues in the management of hereditary nonpolyposis colorectal cancer

New Zealand medical journal, 1996-06, Vol.109 (1023), p.197

1996

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

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

Identification of novel mutations in FOXL2 associated with premature ovarian failure

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

Multifocal extracardiac rhabdomyomas: extending the phenotype of Birt–Hogg–Dubé syndrome

A novel candidate gene in autosomal dominant facial pruritus

Phenotypic discordance between siblings with junctional epidermolysis bullosa–pyloric atresia

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

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

X-Linked Late-Onset Sensorineural Deafness Caused by a Deletion Involving OA1 and a Novel Gene Containing WD-40 Repeats

Analysis of the TGFβ functional pathway in epithelial ovarian carcinoma

Paternal uniparental disomy in monozygotic twins discordant for hemihypertrophy

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

Inhibin: a candidate gene for premature ovarian failure

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

X-Linked Ocular Albinism and Sensorineural Deafness: Linkage to Xp22.3

Genetic heterogeneity in tuberous sclerosis: phenotypic correlations

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

Primary oxalosis-an unusual cause of livedo reticularis

Psychological Impact of Predictive Testing for Colonic Cancer

Clinical and molecular aspects of Gaucher disease in New Zealand

Sotos syndrome - autosomal dominant inheritance substantiated

Epidermolysis bullosa misdiagnosed as child abuse - a report of 3 cases

Impact of molecular genetics on the management of familial adenomatous polyposis

Current issues in the management of hereditary nonpolyposis colorectal cancer

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