M. McPhillips

发表

Combined analysis of three lynch syndrome cohorts confirms the modifying effects of 8q23.3 and 11q23.1 in MLH1 mutation carriers

P. Møller, R. Scott, J. Lubiński, 2013, International journal of cancer.

MSH6 and PMS2 mutation positive Australian Lynch syndrome families: novel mutations, cancer risk and age of diagnosis of colorectal cancer

R. Scott, A. Spigelman, B. Talseth-Palmer, 2010, Hereditary cancer in clinical practice.

MSH 6 and PMS 2 mutation positive Australian Lynch syndrome families : novel mutations , cancer risk and age of diagnosis of colorectal cancer

R. Scott, A. Spigelman, B. Talseth-Palmer, 2010 .

Colorectal cancer susceptibility loci on chromosome 8q23.3 and 11q23.1 as modifiers for disease expression in lynch syndrome

R. Scott, J. Lubiński, A. Spigelman, 2010, Journal of Medical Genetics.

When is a mutation not a mutation: the case of the c.594-2A>C splice variant in a woman harbouring another BRCA1 mutation in trans

R. Scott, A. Spigelman, C. Meldrum, 2016, Hereditary Cancer in Clinical Practice.

cDNA analysis of the BRCA1 unclassified variant c.5194‐12G>A

C. Meldrum, M. Wong-Brown, M. McPhillips, 2013, Clinical genetics.

Targeted sequencing of genes associated with the mismatch repair pathway in patients with endometrial cancer

B. Talseth-Palmer, W. Sjursen, F. Drabløs, 2020, PloS one.

Novel de novo TRIP12 mutation reveals variable phenotypic presentation while emphasizing core features of TRIP12 variations

H. Goel, M. McPhillips, A. Ziolkowski, 2020, American journal of medical genetics. Part A.

Hereditary Cancer in Clinical Practice 2006; 4(2) pp. 94-102 The Association of the COMT V158M Polymorphism with Endometrial/Ovarian Cancer in HNPCC Families Adhering to the Amsterdam Criteria

R. Scott, J. Lubiński, C. Meldrum, 2006 .

Hereditary non‐polyposis colorectal cancer and the role of hPMS2 and hEXO1 mutations

A. Spigelman, C. Meldrum, E. Thompson, 2004, Clinical genetics.

A Comparison Between Denaturing Gradient Gel Electrophoresis and Denaturing High Performance Liquid Chromatography in Detecting Mutations in Genes Associated with Hereditary Non-Polyposis Colorectal Cancer (HNPCC) and the Identification of 9 New Mutations Previously Unidentified by DGGE

R. Scott, C. Meldrum, M. Agrez, 2003, Hereditary Cancer in Clinical Practice.

Frequency of the Common MYH Mutations (G382D and Y165C) in MMR Mutation Positive and Negative HNPCC Patients

R. Scott, C. Meldrum, K. Ashton, 2005, Hereditary cancer in clinical practice.

Shariant platform: Enabling evidence sharing across Australian clinical genetic-testing laboratories to support variant interpretation.

Kenneth D. Doig, K. Friend, J. Pearson, 2022, American journal of human genetics.

Mutation analysis of the STK11/LKB1 gene and clinical characteristics of an Australian series of Peutz–Jeghers syndrome patients

D. Mowat, M. McPhillips, R. Crooks, 2002, Clinical genetics.

CD36 polymorphisms and the age of disease onset in patients with pathogenic variants within the mutation cluster region of APC

C. Oldmeadow, A. Pławski, T. Banasiewicz, 2021, Hereditary Cancer in Clinical Practice.

Hereditary nonpolyposis colorectal cancer in 95 families: differences and similarities between mutation-positive and mutation-negative kindreds.

R. Scott, A. Spigelman, J. Kirk, 2001, American journal of human genetics.

Lynch syndrome mutation spectrum in New South Wales, Australia, including 55 novel mutations

R. Scott, B. Talseth-Palmer, W. Sjursen, 2016, Molecular genetics & genomic medicine.

Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants.

Robert J. Weatheritt, Stephanie L. White, N. Brown, 2021, Genetics in medicine : official journal of the American College of Medical Genetics.

Targeted next‐generation sequencing of 22 mismatch repair genes identifies Lynch syndrome families

Denis C. Bauer, R. Scott, A. Spigelman, 2016, Cancer medicine.

Deletion Mutations in an Australian Series of HNPCC Patients

Rodney J Scott, Mary McPhillips, Cliff J Meldrum, 2005, Hereditary cancer in clinical practice.