Pelin Özlem Şimşek‐Kiper

Mutations in the TGFβ Binding-Protein-Like Domain 5 of FBN1 Are Responsible for Acromicric and Geleophysic Dysplasias

Carine Le Goff, Clémentine Mahaut, Lauren W. Wang et al. · The American Journal of Human Genetics · 2011 · 228 citations · Full text

Fibrosis, Developmental Biology, Signal Transduction +8

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

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 · 144 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