Author

Irmgard Debatin

Observed names: Debatin, I., I Debatin, I. Debatin

Institution: University Hospital Ulm

Observed institutions: Universität Ulm, Heidelberg University, University Hospital Ulm

OpenAlex ID: A5112439291

Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification

2019 · Michael T. Parsons, Emma Tudini, et al. · Human Mutation · 145

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

2013 · Christine Fischer, Karoline Kuchenbäcker, et al. · Journal of Medical Genetics · 94

Aberrant splicing is a common mutational mechanism inMKS1, a key player in Meckel-Gruber syndrome

2007 · Valeska Frank, Nadina Ortiz Brüchle, et al. · Human Mutation · 26

A high proportion of mutations in the BRCA1 gene in German breast/ovarian cancer families with clustering of mutations in the 3′ third of the gene

1998 · Irmgard Debatin, Patricia Tonin, et al. · Human Genetics · 21

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

2011 · C Fischer, C Engel, et al. · Clinical Genetics · 18

Communicating BRCA1 and BRCA2 Genetic Test Results

2006 · Dorothea Gadzicki, Luzie U. Wingen, et al. · Journal of Clinical Oncology · 11

Brustkrebs: die junge Patientin

2009 · D. Varga, A. Wöckel, et al. · Der Gynäkologe · 2

Works count: 8

Citation count: 319

H-index: 6

I10-index: 6