Pelin Özlem Şimşek‐Kiper

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

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 · 192 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Cortical-Bone Fragility — Insights from sFRP4 Deficiency in Pyle’s Disease

Pelin Özlem Şimşek‐Kiper, Hiroaki Saito, Francesca Gori et al. · New England Journal of Medicine · 2016 · 149 citations · Full text

Medicine, Genetics, Molecular Genetics +17

The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome

Pleuntje J. van der Sluijs, Sandra Jansen, Samantha A. Schrier Vergano et al. · Genetics in Medicine · 2018 · 134 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

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