Trend-TDT – a transmission/disequilibrium based association test on functional mini/microsatellites

Por Goldgar David E, Feng Bing-Jian, Corbex Marilys
Publicado em 2007-11-01

A Full-Likelihood Method for the Evaluation of Causality of Sequence Variants from Family Data

Por Thompson, Deborah, Easton, Douglas F., Goldgar, David E.
Publicado em 2003

Trend-TDT – a transmission/disequilibrium based association test on functional mini/microsatellites

Por Feng, Bing-Jian, Goldgar, David E, Corbex, Marilys
Publicado em 2007

Assessing Pathogenicity: Overview of Results from the IARC Unclassified Genetic Variants Working Group

Por Tavtigian, Sean V., Greenblatt, Marc S., Goldgar, David E., Boffetta, Paolo
Publicado em 2008

Classification of Rare Missense Substitutions, Using Risk Surfaces, With Genetic- and Molecular-Epidemiology Applications

Por Tavtigian, Sean V., Byrnes, Graham B., Goldgar, David E., Thomas, Alun
Publicado em 2008

Design Considerations for Massively Parallel Sequencing Studies of Complex Human Disease

Por Feng, Bing-Jian, Tavtigian, Sean V., Southey, Melissa C., Goldgar, David E.
Publicado em 2011

A Computational Method to Classify Variants of Uncertain Significance Using Functional Assay Data With Application to BRCA1

Por Iversen, Edwin S., Couch, Fergus J., Goldgar, David E., Tavtigian, Sean V., Monteiro, Alvaro N. A.
Publicado em 2011

BRCA1/2 Sequence Variants of Uncertain Significance: A Primer for Providers to Assist in Discussions and in Medical Management

Por Lindor, Noralane M., Goldgar, David E., Tavtigian, Sean V., Plon, Sharon E., Couch, Fergus J.
Publicado em 2013

Genetic Evidence and Integration of Various Data Sources for Classifying Uncertain Variants Into a Single Model

Por Goldgar, David E., Easton, Douglas F., Byrnes, Graham B., Spurdle, Amanda B., Iversen, Edwin S., Greenblatt, Marc S.
Publicado em 2008

Pancreatic cancer and a novel MSH2 germline alteration

Por Lindor, Noralane M., Petersen, Gloria M., Spurdle, Amanda B., Thompson, Bryony, Goldgar, David E., Thibodeau, Stephen N.
Publicado em 2011

An international initiative to identify genetic modifiers of cancer risk in BRCA1 and BRCA2 mutation carriers: the Consortium of Investigators of Modifiers of BRCA1 and BRCA2 (CIMB...

Por Chenevix-Trench, Georgia, Milne, Roger L, Antoniou, Antonis C, Couch, Fergus J, Easton, Douglas F, Goldgar, David E
Publicado em 2007

Integrated Evaluation of DNA Sequence Variants of Unknown Clinical Significance: Application to BRCA1 and BRCA2

Por Goldgar, David E., Easton, Douglas F., Deffenbaugh, Amie M., Monteiro, Alvaro N. A., Tavtigian, Sean V., Couch, Fergus J.
Publicado em 2004

Familial prostate cancer: the damage done and lessons learnt

Por Taherian, Nassim, Hamel, Nancy, Bégin, Louis R., Bismar, Tarek A., Goldgar, David E., Feng, Bing-Jian, Foulkes, William D.
Publicado em 2013

Bayes Analysis Provides Evidence of Pathogenicity for the BRCA1 c.135-1G>T (IVS3-1) and BRCA2 c.7977-1G>C (IVS17-1) Variants Displaying In Vitro Splicing Results of Equivocal Clini...

Por Spurdle, Amanda B., Lakhani, Sunil R., Da Silva, Leonard M., Balleine, Rosemary L., Investigators, kConFab, Goldgar, David E.
Publicado em 2010

A review of a multifactorial probability based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS)

Por Lindor, Noralane M., Guidugli, Lucia, Wang, Xianshu, Vallée, Maxime P., Monteiro, Alvaro N.A., Tavtigian, Sean, Goldgar, David E., Couch, Fergus J.
Publicado em 2011

Classification of Missense Substitutions in the BRCA Genes: a Database Dedicated to Ex-UVs

Por Vallée, Maxime P., Francy, Tiana C., Judkins, Megan K., Babikyan, Davit, Lesueur, Fabienne, Gammon, Amanda, Goldgar, David E., Couch, Fergus J., Tavtigian, Sean V.
Publicado em 2011

DNA methylation profiling to assess pathogenicity of BRCA1 unclassified variants in breast cancer

Por Flower, Kirsty J, Shenker, Natalie S, El-Bahrawy, Mona, Goldgar, David E, Parsons, Michael T, Spurdle, Amanda B, Morris, Joanna R, Brown, Robert, Flanagan, James M
Publicado no Epigenetics (2016)

Estimation of the RNU2 macrosatellite mutation rate by BRCA1 mutation tracing

Por Tessereau, Chloé, Lesecque, Yann, Monnet, Nastasia, Buisson, Monique, Barjhoux, Laure, Léoné, Mélanie, Feng, Bingjian, Goldgar, David E., Sinilnikova, Olga M., Mousset, Sylvain, Duret, Laurent, Mazoyer, Sylvie
Publicado em 2014

Multifactorial Likelihood Assessment of BRCA1 and BRCA2 Missense Variants Confirms That BRCA1:c.122A>G(p.His41Arg) Is a Pathogenic Mutation

Por Whiley, Phillip J., Parsons, Michael T., Leary, Jennifer, Tucker, Kathy, Warwick, Linda, Dopita, Belinda, Thorne, Heather, Lakhani, Sunil R., Goldgar, David E., Brown, Melissa A., Spurdle, Amanda B.
Publicado em 2014

Male breast cancer in a multi-gene panel testing cohort: insights and unexpected results

Por Pritzlaff, Mary, Summerour, Pia, McFarland, Rachel, Li, Shuwei, Reineke, Patrick, Dolinsky, Jill S., Goldgar, David E., Shimelis, Hermela, Couch, Fergus J., Chao, Elizabeth C., LaDuca, Holly
Publicado no Breast Cancer Res Treat (2016)