Johannes Zschocke

The 2017 international classification of the Ehlers–Danlos syndromes

Fransiska Malfait, Clair A. Francomano, Peter H. Byers et al. · American Journal of Medical Genetics Part C Seminars in Medical Genetics · 2017 · 1.8K citations · Full text

A survey of tools for variant analysis of next-generation genome sequencing data

Stephan Pabinger, Andreas Dander, M. Fischer et al. · Briefings in Bioinformatics · 2013 · 596 citations · Full text

Engineering, Genetics, Pathology +21

A European Multicenter Study of Phenylalanine Hydroxylase Deficiency: Classification of 105 Mutations and a General System for Genotype-Based Prediction of Metabolic Phenotype

Per Guldberg, Françoise Rey, Johannes Zschocke et al. · The American Journal of Human Genetics · 1998 · 352 citations · Full text

Metabolic Syndrome, Mendelian Disorder, Biochemistry +11

The Genetic Landscape and Epidemiology of Phenylketonuria

Alicia Hillert, Yair Anikster, Amaya Bélanger-Quintana et al. · The American Journal of Human Genetics · 2020 · 339 citations · Full text

Genetic Landscape, Genetic Disorder, Medicine +6

An international classification of inherited metabolic disorders (<scp>ICIMD</scp>)

Carlos R. Ferreira, Shamima Rahman, Markus A. Keller et al. · Journal of Inherited Metabolic Disease · 2020 · 321 citations · Full text