Oliver Bartsch - Concepedia

Author

Oliver Bartsch

Johannes Gutenberg University Mainz ORCID

Also Known As

Bartsch, O., Bartsch, Oliver, Isidor, Bertrand, N. Albers, O Bartsch, O. BARTSCH, O. Bartsch, OLIVER BARTSCH, Oliver Bartsch, The University of North Carolina at Chapel Hill University Libraries

372

Publications

Citations

H-Index

137

Concepts

All Affiliations

Johannes Gutenberg University Mainz University Medical Center of the Johannes Gutenberg University Mainz Technische Universität Dresden Max Planck Institute for Molecular Genetics University of Lübeck

About

Oliver Bartsch is an author at Johannes Gutenberg University Mainz specializing in medicine, genetics, and pathology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	28	49	2K
2	Natural Sciences	2	2	58
3	Arts	1	1	79
4	Public Health	1	1	24
5	Social Sciences	1	1	38

Oliver Bartsch

108

Publications

4.2K

Citations

H-Index

Page 1

	Year	Citations
Phenotype and genotype in 52 patients with Rubinstein–Taybi syndrome caused by <i>EP300</i> mutations Patricia Fergelot, Martine van Belzen, Julien Van‐Gils, American Journal of Medical Genetics Part A	2016	122
Characterization of the clinical and immunologic phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations Tiziana Lorenzini, Manfred Fliegauf, Nils Klammer, Journal of Allergy and Clinical Immunology Autoimmune DiseaseGenetic DisorderMedicineGeneticsImmunologic Phenotype	2020	120
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, Human Genetics Dna SequencingRubinstein–taybi SyndromeMendelian DisorderGenetic DisorderGenetics	2005	115
Relaxin signalling links tyrosine phosphorylation to phosphodiesterase and adenylyl cyclase activity Oliver Bartsch Molecular Human Reproduction	2001	105
Targeted next-generation sequencing of deafness genes in hearing-impaired individuals uncovers informative mutations Barbara Vona, Tobias Müller, Indrajit Nanda, Genetics in Medicine	2014	104
Head and neck paragangliomas: Report of 175 patients (1989–2010) Konstantinos Papaspyrou, Torsten Mewes, Heidi Rossmann, Head & Neck	2011	102
FISH studies in 45 patients with Rubinstein-Taybi syndrome: deletions associated with polysplenia, hypoplastic left heart and death in infancy Oliver Bartsch, Annett Wagner, Georg Klaus Hinkel, European Journal of Human Genetics Rubinstein-taybi SyndromeFish StudiesInherited Metabolic DiseasePediatricsPathology	1999	97
Confirmation of EP300 gene mutations as a rare cause of Rubinstein–Taybi syndrome Ana Maria Bravo Ferrer Acosta, Jürgen Kohlhase, Oliver Bartsch European Journal of Human Genetics Rare CauseEp300 Gene MutationsRubinstein–taybi SyndromeMendelian DisorderGenetic Disorder	2007	91
DiGeorge/velocardiofacial syndrome: FISH studies of chromosomes 22q11 and 10p14, and clinical reports on the proximal 22q11 deletion Oliver Bartsch, Michaela Nemecková, Eduard Kočárek, American Journal of Medical Genetics Part A	2003	91
Delineation of a contiguous gene syndrome with multiple exostoses, enlarged parietal foramina, craniofacial dysostosis, and mental retardation, caused by deletions in the short arm of chromosome 11. Oliver Bartsch, Wim Wuyts, Wim Van Hul, PubMed	1996	82

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