Esther Pohl

Mutational spectrum in a worldwide study of 29,700 families with<i>BRCA1</i>or<i>BRCA2</i>mutations

Timothy R. Rebbeck, Tara M. Friebel, Eitan Friedman et al. · Human Mutation · 2018 · 314 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

A comprehensive molecular study on Coffin–Siris and Nicolaides–Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling

Dagmar Wieczorek, Nina Bögershausen, Filippo Beleggia et al. · Human Molecular Genetics · 2013 · 228 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Attenuated BMP1 Function Compromises Osteogenesis, Leading to Bone Fragility in Humans and Zebrafish

P. V. Asharani, Katharina Keupp, Oliver Semler et al. · The American Journal of Human Genetics · 2012 · 227 citations · Full text

Life Sciences, Genetics, Physiology +14

CEP152 is a genome maintenance protein disrupted in Seckel syndrome

Ersan Kalay, Gökhan Yigit, Yakup Aslan et al. · Nature Genetics · 2010 · 226 citations · Full text

Life Sciences, Genetics, Molecular Genetics +3

Gene panel testing of 5589 <i><scp>BRCA</scp>1/2</i>‐negative index patients with breast cancer in a routine diagnostic setting: results of the German Consortium for Hereditary Breast and Ovarian Cancer

Jan Hauke, Judit Horváth, Eva Groß et al. · Cancer Medicine · 2018 · 168 citations · Full text

Life Sciences, Genetics, Oncology +17