Irmgard Debatin

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

Michael T. Parsons, Emma Tudini, Hongyan Li et al. · Human Mutation · 2019 · 152 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

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

Christine Fischer, Karoline Kuchenbäcker, Christoph Engel et al. · Journal of Medical Genetics · 2013 · 95 citations

Medicine, Genetics, Pathology +17

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

Valeska Frank, Nadina Ortiz Brüchle, Silke Mager et al. · Human Mutation · 2007 · 25 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

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

Irmgard Debatin, Patricia N. Tonin, Brigitte Royer‐Pokora et al. · Human Genetics · 1998 · 21 citations

Medicine, Genetics, Molecular Genetics +14

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

Christine Fischer, Christoph Engel, Christian Sutter et al. · Clinical Genetics · 2011 · 18 citations

Life Sciences, Genetics, Molecular Genetics +17