Dieter Schäfer

发表

Y chromosomal polysomy: A unique case of 49,XYYYY in amniotic fluid cells

C. Sohn, K. Geiger, P. Miny, 2003, American journal of medical genetics. Part A.

Common variants at 12p11, 12q24, 9p21, 9q31.2 and in ZNF365 are associated with breast cancer risk for BRCA1 and/or BRCA2mutation carriers

V. Pankratz, F. Couch, B. Bonanni, 2012, Breast Cancer Research.

Common variants at 12 p 11 , 12 q 24 , 9 p 21 , 9 q 31 . 2 and in ZNF 365 are associated with breast cancer risk for BRCA 1 and / or BRCA 2 mutation carriers

V. Pankratz, F. Couch, David Evans, 2017 .

Common variants at 12p11, 12q24, 9p21, 9q31.2 and in ZNF365 are associated with breast cancer risk for BRCA1 and/or BRCA2 mutation carriers

Mads Thomassen, Nina Ditsch, Vijai Joseph, 2012, Breast Cancer Research.

Functional testing strategy for coding genetic variants of unclear significance in MLH1 in Lynch syndrome diagnosis.

J. Trojan, I. Hinrichsen, G. Plotz, 2015, Carcinogenesis.

Consensus Recommendations of the German Consortium for Hereditary Breast and Ovarian Cancer

R. Schmutzler, M. Kiechle, N. Ditsch, 2021, Breast Care.

Ovarian cancer susceptibility alleles and risk of ovarian cancer in BRCA1 and BRCA2 mutation carriers

J. S. Hoffman, W. Chung, V. Pankratz, 2012, Human mutation.

Common breast cancer susceptibility alleles are associated with tumour subtypes in BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2

Mads Thomassen, Stephen Fox, Dieter Niederacher, 2011, Breast Cancer Research.

q 31 . 2 and in ZNF 365 are associated with breast cancer risk for BRCA 1 and / or BRCA 2 mutation carriers

V. Pankratz, F. Couch, B. Bonanni, 2012 .

Peer Reviewed Title

B. Bonanni, O. Olopade, B. Karlan, 2012 .

Wiedemann–Steiner syndrome: Three further cases

A. Kuechler, P. Meinecke, R. Koenig, 2010, American journal of medical genetics. Part A.

BRCA1/2 testing: uptake, phenocopies, and strategies to improve detection rates in initially negative families

D. Horn, A. Meindl, R. Schmutzler, 2012, Clinical genetics.

Evaluating the performance of the breast cancer genetic risk models BOADICEA, IBIS, BRCAPRO and Claus for predicting BRCA1/2 mutation carrier probabilities: a study based on 7352 families from the German Hereditary Breast and Ovarian Cancer Consortium

E. Schröck, A. Antoniou, A. Meindl, 2013, Journal of Medical Genetics.