Katharina Eirich

SLX4, a coordinator of structure-specific endonucleases, is mutated in a new Fanconi anemia subtype

Chantal Stoepker, Karolina Hain, Beatrice Schuster et al. · Nature Genetics · 2011 · 299 citations

Life Sciences, Genetics, Molecular Biology +9

Predominance of pathogenic missense variants in the RAD51C gene occurring in breast and ovarian cancer families

Ana Osório, Daniela Endt, Fernando Fernández et al. · Human Molecular Genetics · 2012 · 94 citations · Full text

Life Sciences, Genetics, Oncology +17

Combined immunodeficiency develops with age in Immunodeficiency-centromeric instability-facial anomalies syndrome 2 (ICF2)

Horst von Bernuth, Ethiraj Ravindran, Hang Du et al. · Orphanet Journal of Rare Diseases · 2014 · 43 citations · Full text

Life Sciences, Genetics, Immunology +17

Mutations in <i>PTRH2</i> cause novel infantile‐onset multisystem disease with intellectual disability, microcephaly, progressive ataxia, and muscle weakness

Hao Hu, Michelle L. Matter, Lina Issa‐Jahns et al. · Annals of Clinical and Translational Neurology · 2014 · 38 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Hepatoblastoma in a 4‐year‐old girl with Fanconi anaemia

Sascha Kopic, Katharina Eirich, Beatrice Schuster et al. · Acta Paediatrica · 2010 · 24 citations

Life Sciences, Genetics, Oncology +17