Johannes Zschocke
Researcher Next ID · RN-040116
Researcher · Biochemistry, Genetics and Molecular Biology
Innsbruck, Austria
- Works count
- 535
- Citation count
- 17,727
- H-index
- 67
- i10-index
- 253
Research interests
Publications
An international classification of inherited metabolic disorders ( ICIMD )
Journal of Inherited Metabolic Disease · 2020 · https://doi.org/10.1002/jimd.12348
The Genetic Landscape and Epidemiology of Phenylketonuria
The American Journal of Human Genetics · 2020 · https://doi.org/10.1016/j.ajhg.2020.06.006
The 2017 international classification of the Ehlers–Danlos syndromes
American Journal of Medical Genetics Part C Seminars in Medical Genetics · 2017 · https://doi.org/10.1002/ajmg.c.31552
Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revision
Journal of Inherited Metabolic Disease · 2016 · https://doi.org/10.1007/s10545-016-9999-9
Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S , which Encode Subcomponents C1r and C1s of Complement
The American Journal of Human Genetics · 2016 · https://doi.org/10.1016/j.ajhg.2016.08.019
A survey of tools for variant analysis of next-generation genome sequencing data
Briefings in Bioinformatics · 2013 · https://doi.org/10.1093/bib/bbs086
Natural History, Outcome, and Treatment Efficacy in Children and Adults with Glutaryl-CoA Dehydrogenase Deficiency
Pediatric Research · 2006 · https://doi.org/10.1203/01.pdr.0000219387.79887.86
Neonatal epileptic encephalopathy caused by mutations in the PNPO gene encoding pyridox(am)ine 5′-phosphate oxidase
Human Molecular Genetics · 2005 · https://doi.org/10.1093/hmg/ddi120
A European Multicenter Study of Phenylalanine Hydroxylase Deficiency: Classification of 105 Mutations and a General System for Genotype-Based Prediction of Metabolic Phenotype
The American Journal of Human Genetics · 1998 · https://doi.org/10.1086/301920
Current projects
No projects listed.