Esther Milz

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

A mutation screen in patients with Kabuki syndrome

Yun Li, Nina Bögershausen, Yasemin Alanay et al. · Human Genetics · 2011 · 131 citations

Life Sciences, Genetics, Molecular Genetics +11

The BDNFVal66Met SNP modulates the association between beta-amyloid and hippocampal disconnection in Alzheimer’s disease

Nicolai Franzmeier, Jinyi Ren, Alexander Damm et al. · Molecular Psychiatry · 2019 · 92 citations · Full text

Life Sciences, Neurology, Neuroscience +15

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

Life Sciences, Genetics, Molecular Genetics +17

The missing “link”: an autosomal recessive short stature syndrome caused by a hypofunctional XYLT1 mutation

Julia Schreml, Burak Durmaz, Özgür Çoğulu et al. · Human Genetics · 2013 · 78 citations

Medicine, Genetics, Molecular Genetics +11