K. Phillips

发表

Immunohistochemical testing of conventional adenomas for loss of expression of mismatch repair proteins in Lynch syndrome mutation carriers: a case series from the Australasian site of the colon cancer family registry

Aung Ko Win, J. Hopper, S. Thibodeau, 2012, Modern Pathology.

Accuracy of Colorectal Polyp Self-Reports: Findings from the Colon Cancer Family Registry

J. Potter, J. Baron, M. Jenkins, 2007, Cancer Epidemiology Biomarkers & Prevention.

Analysis of families with Lynch syndrome complicated by advanced serrated neoplasia: the importance of pathology review and pedigree analysis

M. Woods, J. Hopper, M. Jenkins, 2009, Familial Cancer.

Colonic Transit Time and IBS Symptoms: What's the Link?

Aung Ko Win, M. Woods, J. Hopper, 2012, The American Journal of Gastroenterology.

Erratum to: Phenotypic diversity in patients with multiple serrated polyps: a genetics clinic study

M. Woods, J. Hopper, A. de la Chapelle, 2010, International Journal of Colorectal Disease.

Gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS): a new autosomal dominant syndrome

D. Huntsman, G. Chenevix-Trench, N. Lindor, 2011, Gut.

Novel germ line DDX41 mutations define families with a lower age of MDS/AML onset and lymphoid malignancies.

Anna L. Brown, T. Walsh, M. King, 2016, Blood.

Congenital hypertrophy of the retinal pigment epithelium (CHRPE) in familial colorectal cancer

J. Craig, G. Suthers, J. Muecke, 2006, Familial Cancer.

Two monogenic disorders masquerading as one: severe congenital neutropenia with monocytosis and non-syndromic sensorineural hearing loss

Anna L. Brown, H. Rienhoff, H. Scott, 2020, BMC Medical Genetics.

Phenotypic diversity in patients with multiple serrated polyps: a genetics clinic study

Aung Ko Win, M. Woods, J. Hopper, 2010, International Journal of Colorectal Disease.

A novel germline SAMD9L mutation in a family with ataxia-pancytopenia syndrome and pediatric acute lymphoblastic leukemia

Anna L. Brown, H. Scott, A. Schreiber, 2019, Haematologica.

A synonymous GATA2 variant underlying familial myeloid malignancy with striking intrafamilial phenotypic variability

Anna L. Brown, J. Szer, E. Thompson, 2020, British journal of haematology.

Point Mutations in Exon 1B of APC Reveal Gastric Adenocarcinoma and Proximal Polyposis of the Stomach as a Familial Adenomatous Polyposis Variant.

P. Meltzer, L. Coin, S. Davis, 2016, American journal of human genetics.

Lynch Syndrome–Associated Breast Cancers: Clinicopathologic Characteristics of a Case Series from the Colon Cancer Family Registry

J. Potter, J. Hopper, S. Thibodeau, 2010, Clinical Cancer Research.

Twin pregnancy with a complete hydatidiform mole and co-existent healthy fetus: Unusual case of complete resorption of molar pregnancy

K. Sivakumar, A. Coady, R. Kathirvel, 2013, Journal of obstetrics and gynaecology : the journal of the Institute of Obstetrics and Gynaecology.

RUNX1-mutated families show phenotype heterogeneity and a somatic mutation profile unique to germline predisposed AML.

Anna L. Brown, Paul P. S. Wang, S. Fröhling, 2020, Blood advances.

Linkage to chromosome 2q32.2-q33.3 in familial serrated neoplasia (Jass syndrome)

J. Potter, D. Duggan, J. Hopper, 2010, Familial Cancer.

Prospective study of breast cancer risk in mutation-negative women from BRCA1 or BRCA2 mutation-positive families in the Kathleen Cuningham Foundation Consortium for Research into Familial Breast Cancer (kConFab).

J. Hopper, R. Milne, M. Friedlander, 2011, Journal of Clinical Oncology.

Risk Factors for Colorectal Cancer in Patients with Multiple Serrated Polyps: A Cross-Sectional Case Series from Genetics Clinics

Aung Ko Win, D. English, J. Potter, 2010, PloS one.

Familial mutations in PMS2 can cause autosomal dominant hereditary nonpolyposis colorectal cancer.

G. Suthers, A. Ruszkiewicz, M. Walsh, 2005, Gastroenterology.

Australian Familial Haematological Cancer Study - Findings from 15 Years of Aggregated Clinical, Genomic and Transcriptomic Data

Anna L. Brown, H. Scott, A. Schreiber, 2019, Blood.

Cancer risks for relatives of patients with serrated polyposis.

Aung Ko Win, M. Woods, J. Hopper, 2012, The American journal of gastroenterology.

Cancer risk management practices of non-carriers within BRCA1/2 mutation positive families in the Kathleen Cunningham Consortium for Research into Familial Breast Cancer (kConFab).

J. Hopper, S. Dawson, M. Friedlander, 2006, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

Somatic mutational landscape of hereditary hematopoietic malignancies caused by germline variants in RUNX1, GATA2, and DDX41

S. Fröhling, M. Cazzola, J. Klco, 2023, Blood advances.