RAD21 Mutations Cause a Human Cohesinopathy

Matthew A. Deardorff, Jonathan J. Wilde, Melanie Albrecht, +24

The American Journal of Human Genetics

Rad21 Mutations CauseGenetic DisorderGeneticsPathologyDisease Gene Identification +2

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, +80

Human Molecular Genetics

GeneticsImmunodeficienciesGenetic EpidemiologyPathologyMolecular Genetics +25

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

Frank J. Kaiser, Alma Osmanoric, Aleksandar Raković, +9

Annals of Neurology

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

Manuela Wuelling, Frank J. Kaiser, Laetitia A. Buelens, +4

Developmental Biology

Musculoskeletal ResearchDevelopmental BiologySignal TransductionMolecular PhysiologyChondrocyte Proliferation +8

<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, +57

Human Mutation

Lysosomal Storage DiseaseGeneticsImmunodeficienciesGenetic EpidemiologySmc3 Mutation +23

Mutations in chromatin regulators functionally link Cornelia de Lange syndrome and clinically overlapping phenotypes

Ilaria Parenti, Maria Esperanza Teresa‐Rodrigo, Jelena Pozojevic, +21

Human Genetics

ChromatinGenome InstabilityMendelian DisorderChromatin RemodelingGenetic Disorder +10

Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin–Siris and Nicolaides–Baraitser syndromes

Nuria C. Bramswig, Hermann‐Josef Lüdecke, Yasemin Alanay, +20

Human Genetics

UrologyMendelian DisorderGenetic DisorderMedicineDiagnosis +6

Hidden Mutations in Cornelia de Lange Syndrome Limitations of Sanger Sequencing in Molecular Diagnostics

Diana Braunholz, Carolin Obieglo, Ilaria Parenti, +9

Human Mutation

Cdls GenesGeneticsImmunologyPathologyMolecular Genetics +18

Isolated NIBPL missense mutations that cause Cornelia de Lange syndrome alter MAU2 interaction

Diana Braunholz, Melanie Hullings, María Concepción Gil‐Rodríguez, +17

European Journal of Human Genetics

Genome InstabilityMendelian DisorderGenetic DisorderGeneticsDegenerative Disease +6

Spheroid Culture of Head and Neck Cancer Cells Reveals an Important Role of EGFR Signalling in Anchorage Independent Survival

Diana Braunholz, Mohammad Saki, Franziska Niehr, +5

PLoS ONE

Biological MicroenvironmentsCell ProliferationDermatologyCancer BiologyTumor Biology +20