W. Mckinnon

发表

Endoglin, a TGF-β binding protein of endothelial cells, is the gene for hereditary haemorrhagic telangiectasia type 1

D. W. Johnson, M. Pericak-Vance, A. Guttmacher, 1994, Nature Genetics.

Genetic testing for breast and ovarian cancer susceptibility: a family experience.

W. McKinnon, M. Van Riper, W. Mckinnon, 2004, Journal of midwifery & women's health.

Genetic Cancer Risk Assessment and Counseling: Recommendations of the National Society of Genetic Counselors

Julie O. Culver, Susan Manley, A. Trepanier, 2004, Journal of Genetic Counseling.

Effect of Sulindac and Erlotinib vs Placebo on Duodenal Neoplasia in Familial Adenomatous Polyposis: A Randomized Clinical Trial.

S. Tavtigian, N. Samadder, W. Samowitz, 2016, JAMA.

Rapid progression of prostate cancer in men with a BRCA2 mutation

P Ghadirian, F. Couch, D. Horsman, 2008, British Journal of Cancer.

Thorough in silico and in vitro cDNA analysis of 21 putative BRCA1 and BRCA2 splice variants and a complex tandem duplication in BRCA2 allowing the identification of activated cryptic splice donor sites in BRCA2 exon 11

A. Vral, W. Foulkes, L. Forétova, 2018, Human mutation.

Functional significance and clinical phenotype of nontruncating mismatch repair variants of MLH1.

A. de la Chapelle, C. Sutter, P. Peltomäki, 2005, Gastroenterology.

Cancer Risks Associated With Germline PALB2 Pathogenic Variants: An International Study of 524 Families.

Julie O. Culver, F. Couch, E. Goode, 2019, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

Uptake of BRCA1/2 Genetic Testing in a Randomized Trial of Telephone Counseling

J. Garber, H. Valdimarsdottir, C. Isaacs, 2014, Genetics in Medicine.

Founder and recurrent CDH1 mutations in families with hereditary diffuse gastric cancer.

B. Fernandez, D. Huntsman, P. Pharoah, 2007, JAMA.

Colonic ganglioneuromatous polyposis and metastatic adenocarcinoma in the setting of Cowden syndrome: a case report and literature review.

M. Bosenberg, M. Greenblatt, W. McKinnon, 2012, Human pathology.

Randomized noninferiority trial of telephone versus in-person genetic counseling for hereditary breast and ovarian cancer.

J. Garber, H. Valdimarsdottir, C. Isaacs, 2014, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

Germ Line Mutations of Mismatch Repair Genes in Hereditary Nonpolyposis Colorectal Cancer Patients with Small Bowel Cancer: International Society for Gastrointestinal Hereditary Tumours Collaborative Study

A. Viel, J. Burn, M. Greenblatt, 2006, Clinical Cancer Research.

An evaluation of memory and attention in BRCA mutation carriers using an online cognitive assessment tool

Stephanie A Cohen, A. Troyer, W. Foulkes, 2021, Cancer.

Incidence of colorectal cancer in BRCA1 and BRCA2 mutation carriers: results from a follow-up study

Charis Eng, Fergus Couch, Kevin Sweet, 2013, British Journal of Cancer.

Telephone versus in-person genetic counseling for hereditary cancer risk: Patient predictors of differential outcomes.

J. Garber, H. Valdimarsdottir, C. Isaacs, 2021, Journal of telemedicine and telecare.

Endoglin expression is reduced in normal vessels but still detectable in arteriovenous malformations of patients with hereditary hemorrhagic telangiectasia type 1.

A. Guttmacher, W. Meschino, L. Becker, 2000, The American journal of pathology.

Genetic heterogeneity in hereditary haemorrhagic telangiectasia: possible correlation with clinical phenotype.

M. Pericak-Vance, A. Guttmacher, D. Marchuk, 1994, Journal of medical genetics.

A disease locus for hereditary haemorrhagic telangiectasia maps to chromosome 9q33–34

F. Collins, M. Boehnke, M. Iannuzzi, 1994, Nature Genetics.

Universal Versus Targeted Screening for Lynch Syndrome: Comparing Ascertainment and Costs Based on Clinical Experience

M. Greenblatt, C. Koliba, W. McKinnon, 2016, Digestive Diseases and Sciences.

Essential Elements of Genetic Cancer Risk Assessment, Counseling, and Testing: Updated Recommendations of the National Society of Genetic Counselors

Julie O. Culver, A. Trepanier, R. Nagy, 2012, Journal of Genetic Counseling.

Doctors get closer to deciding the true birth prevalence of Prader-Willi syndrome

A. Guttmacher, M. Porteous, D. Marchuk, 2003, Journal of medical genetics.

Life after BRCA1/2 testing: family communication and support issues.

W. McKinnon, T. Demarco, W. Mckinnon, 2006, Breast disease.

Ophira M. GinsburgCharmaine Kim-SingWilliam D. Foulkes • Parviz GhadirianHenry T. LynchPing SunSteven A. Narod • Hereditary Breast Cancer Clinical Study Group

F. Couch, O. Olopade, B. Karlan, 2010 .

Patient Perceptions of Telephone vs. In-Person BRCA1/BRCA2 Genetic Counseling

J. Garber, H. Valdimarsdottir, C. Isaacs, 2016, Journal of Genetic Counseling.

A HOXA13 allele with a missense mutation in the homeobox and a dinucleotide deletion in the promoter underlies Guttmacher syndrome

A. Guttmacher, P. Scambler, T. M. Williams, 2002, Human mutation.

Survey of unaffected BRCA and mismatch repair (MMR) mutation positive individuals

R. Bennett, W. Kohlmann, J. Weitzel, 2009, Familial Cancer.

Randomized Noninferiority Trial of Telephone vs In-Person Genetic Counseling for Hereditary Breast and Ovarian Cancer: A 12-Month Follow-Up

J. Garber, H. Valdimarsdottir, C. Isaacs, 2017, JNCI cancer spectrum.

Multi-gene panel testing for hereditary cancer susceptibility in a rural Familial Cancer Program

M. Greenblatt, M. Wood, David J. Hermel, 2016, Familial Cancer.

Autosomal dominant postaxial polydactyly, nail dystrophy, and dental abnormalities map to chromosome 4p16, in the region containing the Ellis-van Creveld syndrome locus.

A. Guttmacher, E. Jabs, V. McKusick, 1997, American journal of human genetics.

Familial multiple pilomatrixomas as a presentation of attenuated adenomatosis polyposis coli

A. Lazar, M. Bosenberg, M. Greenblatt, 2012, Journal of cutaneous pathology.

Risk for breast cancer and management of unaffected individuals with non‐BRCA hereditary breast cancer

J. Garber, M. Wood, W. McKinnon, 2020, The breast journal.

Survival from breast cancer in women with a BRCA2 mutation by treatment

F. Couch, P. Møller, W. Foulkes, 2021, British Journal of Cancer.

Breast cancer risk after age 60 among BRCA1 and BRCA2 mutation carriers

Stephanie A Cohen, O. Olopade, B. Karlan, 2021, Breast Cancer Research and Treatment.

Predisposition genetic testing for late-onset disorders in adults. A position paper of the National Society of Genetic Counselors.

W. Neufeld-Kaiser, R. Bennett, W. McKinnon, 1997, JAMA.

The incidence of leukaemia in women with BRCA1 and BRCA2 mutations: an International Prospective Cohort Study

Stephanie A Cohen, F. Couch, O. Olopade, 2016, British Journal of Cancer.

Patient and genetic counselor perceptions of in-person versus telephone genetic counseling for hereditary breast/ovarian cancer

H. Valdimarsdottir, B. Peshkin, M. Schwartz, 2016, Familial Cancer.

The MLH1 c.-27C>A and c.85G>T variants are linked to dominantly inherited MLH1 epimutation and are borne on a European ancestral haplotype

U. Ladabaum, R. Ward, M. Ligtenberg, 2013, European Journal of Human Genetics.

CANCER GENETICS

W. McKinnon, W. Mckinnon, 2019, Cancer.

Placing negative multi-gene panel results into clinical context

M. Greenblatt, M. Wood, David J. Hermel, 2017, Familial Cancer.

Germ LineMutations of Mismatch Repair Genes in Hereditary Nonpolyposis Colorectal Cancer Patients with Small Bowel Cancer : International Society for Gastrointestinal HereditaryTumours Collaborative Study

J. Burn, M. Greenblatt, L. Schofield, 2006 .