Jonas Denecke - Concepedia

Author

Jonas Denecke

Also Known As

Adela Della Marina, Annette Karolin Homma, Deike Weiss, Denecke, J, Denecke, Jonas, J Denecke, J. Denecke, J., Denecke, Jonas Denecke

1.1K

Publications

5.9K

Citations

H-Index

116

Concepts

All Affiliations

Universität Hamburg University Medical Center Hamburg-Eppendorf University Hospital Münster University of Münster Radboud University Medical Center

About

Jonas Denecke is an author at Universität Hamburg specializing in medicine, genetics, and developmental biology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	24	33	2.1K
2	Social Sciences	5	5	339
3	Health Sciences	4	4	74
4	Biochemistry	4	4	216
5	Natural Sciences	3	3	141

Jonas Denecke

Publications

4.3K

Citations

H-Index

Page 1

	Year	Citations
Mutations affecting the secretory COPII coat component SEC23B cause congenital dyserythropoietic anemia type II Klaus Schwarz, Achille Iolascon, Fátima Verı́ssimo, Nature Genetics Developmental BiologyGenetic DisorderGeneticsPathogenesisHematology	2009	278
Lessons learned from additional research analyses of unsolved clinical exome cases Mohammad K. Eldomery, Zeynep Coban‐Akdemir, Tamar Harel, Genome Medicine	2017	230
Mutations in VIPAR cause an arthrogryposis, renal dysfunction and cholestasis syndrome phenotype with defects in epithelial polarization Andrew R. Cullinane, Anna Straatman-Iwanowska, Andreas Zaucker, Nature Genetics UrologyAutoimmune DiseaseCholestasis Syndrome PhenotypeGenetic DisorderMedicine	2010	178
Evaluation of Children with SMA Type 1 Under Treatment with Nusinersen within the Expanded Access Program in Germany Astrid Pechmann, Thorsten Langer, David Schorling, Journal of Neuromuscular Diseases	2018	144
BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cells Davor Lessel, Christina Gehbauer, Nuria C. Bramswig, Brain Bcl11b MutationsBrain DevelopmentLymphocyte DevelopmentGeneticsInnate Lymphoid Cells	2018	132
A mutation in the human MPDU1 gene causes congenital disorder of glycosylation type If (CDG-If) Christian Kranz, Jonas Denecke, Mark A. Lehrman, Journal of Clinical Investigation	2001	130
Clinical and molecular genetic features of ARC syndrome Paul Gissen, Louise Tee, Colin A. Johnson, Human Genetics Arc SyndromeMendelian DisorderGenetic DisorderGeneticsGenetic Epidemiology	2006	127
De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder Davor Lessel, Claudia Schob, Sébastien Küry, The American Journal of Human Genetics Neurodevelopmental DisordersDevelopmental BiologyMendelian DisorderGenetic DisorderGenetics	2017	107
Genetic and phenotypic spectrum associated with IFIH1 gain‐of‐function Gillian Rice, Sehoon Park, Francesco Gavazzi, Human Mutation	2020	107
De Novo Mutations in CHAMP1 Cause Intellectual Disability with Severe Speech Impairment Maja Hempel, Kirsten Cremer, Charlotte W. Ockeloen, The American Journal of Human Genetics Severe Speech ImpairmentGenetic DisorderMedicineGeneticsMedical Genetics	2015	106

Page 1