Johannes Kopp

6PUBLICATIONS
64CO-AUTHORS
NeurogeneticsChemical and thermal processes in energy and combustionDevelopmental genetics (incl. sex determination)Molecular evolutionHaematological tumours
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Publications (6)

|Jun 26, 2026
Identification of biallelic loss-of-function PREP variants in three individuals with syndromic intellectual disability.

|Aug 20, 2025
A missing enzyme-rescue metabolite as cause of a rare skeletal dysplasia.

Jean Jacobs, Hristiana Lyubenova, Sven Potelle

|Dec 16, 2024
Golgi pH elevation due to loss of V-ATPase subunit V0a2 function correlates with tissue-specific glycosylation changes and globozoospermia.

Johannes Kopp, Denise Jahn, Guido Vogt

|Oct 18, 2024
A transposable element prevents severe hemophilia B and provides insights into the evolution of new- and old world primates.

Johannes Kopp, Alice Rovai, Michael Ott

|Apr 09, 2024
Loss-of-function variants affecting the STAGA complex component SUPT7L cause a developmental disorder with generalized lipodystrophy.

Johannes Kopp, Leonard A Koch, Hristiana Lyubenova

|Apr 27, 2021
Efficient generation of osteoclasts from human induced pluripotent stem cells and functional investigations of lethal CLCN7-related osteopetrosis.

Uta Rössler, Anna Floriane Hennig, Nina Stelzer

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Frequent Collaborators

4 joint publications

Björn Fischer-Zirnsak

4 joint publications

Uwe Kornak

2 joint publications

Oliver Küchler

2 joint publications

Miguel Rodriguez de Los Santos