Oliver Bartsch

Phenotype and genotype in 52 patients with Rubinstein–Taybi syndrome caused by <i>EP300</i> mutations

Patricia Fergelot, Martine van Belzen, Julien Van‐Gils et al. · American Journal of Medical Genetics Part A · 2016 · 122 citations

Characterization of the clinical and immunologic phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations

Tiziana Lorenzini, Manfred Fliegauf, Nils Klammer et al. · Journal of Allergy and Clinical Immunology · 2020 · 120 citations · Full text

Autoimmune Disease, Genetic Disorder, Medicine +11

DNA sequencing of CREBBP demonstrates mutations in 56% of patients with Rubinstein–Taybi syndrome (RSTS) and in another patient with incomplete RSTS

Oliver Bartsch, Stefanie Schmidt, Marion Richter et al. · Human Genetics · 2005 · 115 citations

Dna Sequencing, Rubinstein–taybi Syndrome, Mendelian Disorder +10

Relaxin signalling links tyrosine phosphorylation to phosphodiesterase and adenylyl cyclase activity

Oliver Bartsch · Molecular Human Reproduction · 2001 · 105 citations · Full text

Targeted next-generation sequencing of deafness genes in hearing-impaired individuals uncovers informative mutations

Barbara Vona, Tobias Müller, Indrajit Nanda et al. · Genetics in Medicine · 2014 · 104 citations · Full text