Almuth Caliebe

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 · 298 citations · Full text

Brca1 Mutations, Genetic Testing, 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 · 227 citations · Full text

Haploinsufficiency of a Spliceosomal GTPase Encoded by EFTUD2 Causes Mandibulofacial Dysostosis with Microcephaly

Matthew A. Lines, Lijia Huang, Jeremy Schwartzentruber et al. · The American Journal of Human Genetics · 2012 · 213 citations · Full text

Fine Mapping of the 1p36 Deletion Syndrome Identifies Mutation of PRDM16 as a Cause of Cardiomyopathy

Anne-Karin Arndt, Sebastian Schäfer, Jörg‐Detlef Drenckhahn et al. · The American Journal of Human Genetics · 2013 · 208 citations · Full text

Cardiomyopathy, Genetics, Pathology +5

Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes

Julian Schubert, Aleksandra Siekierska, Mélanie Langlois et al. · Nature Genetics · 2014 · 195 citations

Neurobiology Of Disease, Neurological Disorder, Genetic Disorder +10