Katharina M. Roetzer

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

Sébastien Jacquemont, Alexandre Reymond, Flore Zufferey et al. · Nature · 2011 · 474 citations · Full text

Gene Dosage, Genetics, Human Polymorphism +8

Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures

Anath C. Lionel, Andrea K. Vaags, Daisuke Sato et al. · Human Molecular Genetics · 2013 · 151 citations · Full text

Identification of risk genes for autism spectrum disorder through copy number variation analysis in Austrian families

Gerald Egger, Katharina M. Roetzer, Abdul Noor et al. · Neurogenetics · 2014 · 113 citations

Syndromic Autism, Genetics, Risk Genes +8

CDK10 Mutations in Humans and Mice Cause Severe Growth Retardation, Spine Malformations, and Developmental Delays

Christian Windpassinger, Juliette Piard, Carine Bonnard et al. · The American Journal of Human Genetics · 2017 · 41 citations · Full text

Cdk10 Mutations, Developmental Anomaly, Developmental Biology +9

Effects of Tumor-Induced Osteomalacia on the Bone Mineralization Process

K. Nawrot-Wawrzyniak, Franz Varga, Alexander Nader et al. · Calcified Tissue International · 2009 · 36 citations · Full text