Carsten Bergmann - Concepedia

Author

Carsten Bergmann

University Medical Center Freiburg ORCID

Also Known As

Bergmann, C., Bergmann, Carsten, C Bergmann, C. Bergmann, Carsten Bergmann, Carsten Bergmann (468004), Diana W Bianchi, Erica Davis, Hannah M. Mitchison, Richard A Lewis

342

Publications

14.6K

Citations

H-Index

142

Concepts

All Affiliations

University Medical Center Freiburg RWTH Aachen University University of Cologne University Hospital Cologne Heidelberg University

About

Carsten Bergmann is an author at University Medical Center Freiburg specializing in medicine, genetics, and pathology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	37	55	6.2K
2	Health Sciences	4	4	293
3	Natural Sciences	3	3	131
4	Arts	1	1	40
5	Engineering	1	1	100

Carsten Bergmann

136

Publications

10.2K

Citations

H-Index

Page 1

	Year	Citations
PKHD1, the Polycystic Kidney and Hepatic Disease 1 Gene, Encodes a Novel Large Protein Containing Multiple Immunoglobulin-Like Plexin-Transcription–Factor Domains and Parallel Beta-Helix 1 Repeats Luiz F. Onuchic, Laszlo Furu, Yasuyuki Nagasawa, The American Journal of Human Genetics Signaling PathwayAutoimmune DiseaseDisease MechanismKidney ResearchLiver Physiology	2002	506
Clinical and Molecular Phenotype of Aicardi-Goutières Syndrome Gillian Rice, Teresa Patrick, Rekha Parmar, The American Journal of Human Genetics CardiomyopathyHeart FailureCardiorenal SyndromesCardiovascular DiseaseMolecular Phenotype	2007	442
Exome Sequencing Identifies Truncating Mutations in Human SERPINF1 in Autosomal-Recessive Osteogenesis Imperfecta Jutta Becker, Oliver Semler, Christian Gilissen, The American Journal of Human Genetics SclerostinDevelopmental BiologyMendelian DisorderGenetic DisorderHuman Serpinf1	2011	354
Clinical consequences of PKHD1 mutations in 164 patients with autosomal-recessive polycystic kidney disease (ARPKD) Carsten Bergmann, Jan Senderek, Ellen Windelen, Kidney International Pkhd1 MutationsUrologyRenal DiseaseMendelian DisorderGenetic Disorder	2005	341
Loss of Nephrocystin-3 Function Can Cause Embryonic Lethality, Meckel-Gruber-like Syndrome, Situs Inversus, and Renal-Hepatic-Pancreatic Dysplasia Carsten Bergmann, Manfred Fliegauf, Nadina Ortiz Brüchle, The American Journal of Human Genetics Meckel-gruber-like SyndromeDevelopmental BiologyRenal-hepatic-pancreatic DysplasiaPathologyMorphogenesis	2008	328
Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy Edgar A. Otto, Toby W. Hurd, Rannar Airik, Nature Genetics Ocular DiseaseRetinaOphthalmologyMedicinePathology	2010	318
A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies Hemant Khanna, Erica E. Davis, Carlos Murga‐Zamalloa, Nature Genetics Ocular DiseaseCommon AlleleRetinaOphthalmologyGenetics	2009	267
Mutations in SIL1 cause Marinesco-Sjögren syndrome, a cerebellar ataxia with cataract and myopathy Jan Senderek, Michael J. B. Krieger, Claudia Stendel, Nature Genetics Mendelian DisorderOphthalmologyGenetic DisorderGeneticsPathology	2005	248
Mutations in Multiple PKD Genes May Explain Early and Severe Polycystic Kidney Disease Carsten Bergmann, Jennifer von Bothmer, Nadina Ortiz Brüchle, Journal of the American Society of Nephrology GeneticsRenal PathologyGenetic EpidemiologyRenal InflammationPathology	2011	229
Increasing the Yield in Targeted Next-Generation Sequencing by Implicating CNV Analysis, Non-Coding Exons and the Overall Variant Load: The Example of Retinal Dystrophies Tobias Eisenberger, Christine Neuhaus, Arif O. Khan, PLoS ONE Cnv AnalysisGeneticsGenetic EpidemiologyPathologyDisease Gene Identification	2013	225

Page 1