Diana Braunholz

RAD21 Mutations Cause a Human Cohesinopathy

Matthew A. Deardorff, Jonathan J. Wilde, Melanie Albrecht et al. · The American Journal of Human Genetics · 2012 · 267 citations · Full text

Rad21 Mutations Cause, Genetic Disorder, Genetics +4

Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance

Frank J. Kaiser, Morad Ansari, Diana Braunholz et al. · Human Molecular Genetics · 2014 · 146 citations · Full text

Genetics, Immunodeficiencies, Genetic Epidemiology +27

The dystonia gene <i>DYT1</i> is repressed by the transcription factor THAP1 (DYT6)

Frank J. Kaiser, Alma Osmanoric, Aleksandar Raković et al. · Annals of Neurology · 2010 · 97 citations

Trps1, a regulator of chondrocyte proliferation and differentiation, interacts with the activator form of Gli3

Manuela Wuelling, Frank J. Kaiser, Laetitia A. Buelens et al. · Developmental Biology · 2009 · 90 citations

Musculoskeletal Research, Developmental Biology, Signal Transduction +10

<i>De Novo</i>Heterozygous Mutations in<i>SMC3</i>Cause a Range of Cornelia de Lange Syndrome-Overlapping Phenotypes

María Concepción Gil‐Rodríguez, Matthew A. Deardorff, Morad Ansari et al. · Human Mutation · 2015 · 88 citations · Full text

Lysosomal Storage Disease, Genetics, Immunodeficiencies +25