Nina Bögershausen

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

Mutation Update for Kabuki Syndrome Genes<i>KMT2D</i>and<i>KDM6A</i>and Further Delineation of X-Linked Kabuki Syndrome Subtype 2

Nina Bögershausen, Vincent Gâtinois, Vera Riehmer et al. · Human Mutation · 2016 · 183 citations · Full text

A mutation screen in patients with Kabuki syndrome

Yun Li, Nina Bögershausen, Yasemin Alanay et al. · Human Genetics · 2011 · 128 citations

Down Syndrome, Mendelian Disorder, Genetic Disorder +5

Recessive TRAPPC11 Mutations Cause a Disease Spectrum of Limb Girdle Muscular Dystrophy and Myopathy with Movement Disorder and Intellectual Disability

Nina Bögershausen, Nassim Shahrzad, Jessica X. Chong et al. · The American Journal of Human Genetics · 2013 · 118 citations · Full text

Genetic Disorder, Medicine, Genetics +5

RAP1-mediated MEK/ERK pathway defects in Kabuki syndrome

Nina Bögershausen, I-Chun Tsai, Esther Pohl et al. · Journal of Clinical Investigation · 2015 · 86 citations · Full text