Hanno J. Bolz - Concepedia

Author

Hanno J. Bolz

Also Known As

H Bolz, H J Bolz, H. Bolz, H. J. Bolz, H.J. Bolz, Hanno Bolz, Hanno J Bolz, Hanno J. Bolz, Hanno Joern Bolz, Hanno Jörn Bolz

161

Publications

6.2K

Citations

H-Index

Concepts

All Affiliations

University Hospital Cologne University of Cologne University of Bonn King Khaled Eye Specialist Hospital University Medical Center Freiburg

About

Hanno J. Bolz is an author at University Hospital Cologne specializing in medicine, genetics, and pathology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	23	28	3K
2	Arts	3	3	83
3	Natural Sciences	3	3	114
4	Engineering	2	2	217
5	Health Sciences	1	1	59

Hanno J. Bolz

Publications

5.6K

Citations

H-Index

Page 1

	Year	Citations
Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D Hanno J. Bolz, Benigna von Brederlow, Alfredo Ramı́rez, Nature Genetics Genetic DisorderGeneticsPathogenesisPathologyNew Member	2001	493
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
Loss of Cav1.3 (CACNA1D) function in a human channelopathy with bradycardia and congenital deafness Shahid Mahmood Baig, Alexandra Koschak, Andreas Lieb, Nature Neuroscience Congenital DeafnessChannelopathiesHuman ChannelopathyPhysiologyIon Channels	2010	313
PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome Inga Ebermann, Jennifer B. Phillips, Max C. Liebau, Journal of Clinical Investigation	2010	242
A novel gene for Usher syndrome type 2: mutations in the long isoform of whirlin are associated with retinitis pigmentosa and sensorineural hearing loss Inga Ebermann, Hendrik P. N. Scholl, Peter Charbel Issa, Human Genetics Developmental BiologyMendelian DisorderGenetic DisorderRetinitis PigmentosaGenetics	2006	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
Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics Claudia Dafinger, Max C. Liebau, Solaf M. Elsayed, Journal of Clinical Investigation Specific Brain MalformationDevelopmental BiologyMendelian DisorderJoubert SyndromeGenetic Disorder	2011	208
Clinical and genetic characteristics of 251 consecutive patients with macular and cone/cone-rod dystrophy Johannes Birtel, Tobias Eisenberger, Martin Gliem, Scientific Reports	2018	205
TMEM237 Is Mutated in Individuals with a Joubert Syndrome Related Disorder and Expands the Role of the TMEM Family at the Ciliary Transition Zone Lijia Huang, Katarzyna Szymańska, Victor L. Jensen, The American Journal of Human Genetics Developmental BiologyGenetic DisorderGeneticsClinical GeneticsTmem Family	2011	199
ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3 Sylvia Hoff, Jan Halbritter, Daniel Epting, Nature Genetics	2013	198

Page 1