Johannes Kopp

Berlin, BE, Germany

Last Updated: 09/26/2026

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Found 11 publications

Identification of biallelic loss-of-function PREP variants in three individuals with syndromic intellectual disability.

Identification of biallelic loss-of-function PREP variants in three individuals with syndromic intellectual disability.

Journal: Journal of medical genetics

Published: January 14, 2026

A biallelic MRPL42 variant causes a combined oxidative phosphorylation deficiency syndrome revealed by multi-omics.

A biallelic MRPL42 variant causes a combined oxidative phosphorylation deficiency syndrome revealed by multi-omics.

Journal: NPJ genomic medicine

Published: November 17, 2025

A missing enzyme-rescue metabolite as cause of a rare skeletal dysplasia.

A missing enzyme-rescue metabolite as cause of a rare skeletal dysplasia.

Journal: Nature

Published: August 20, 2024

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

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

Journal: PloS one

Published: May 16, 2024

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

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

Journal: Cellular and molecular life sciences : CMLS

Published: January 02, 2024

Loss-of-function variants affecting the STAGA complex component SUPT7L cause a developmental disorder with generalized lipodystrophy.

Loss-of-function variants affecting the STAGA complex component SUPT7L cause a developmental disorder with generalized lipodystrophy.

Journal: Human genetics

Published: November 30, 2023

Alternative splicing of BUD13 determines the severity of a developmental disorder with lipodystrophy and progeroid features.

Alternative splicing of BUD13 determines the severity of a developmental disorder with lipodystrophy and progeroid features.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: February 14, 2022

Correction: Pathological mechanism and antisense oligonucleotide-mediated rescue of a non-coding variant suppressing factor 9 RNA biogenesis leading to hemophilia B.

Correction: Pathological mechanism and antisense oligonucleotide-mediated rescue of a non-coding variant suppressing factor 9 RNA biogenesis leading to hemophilia B.

Journal: PLoS genetics

Published: January 28, 2021

Efficient generation of osteoclasts from human induced pluripotent stem cells and functional investigations of lethal CLCN7-related osteopetrosis.

Efficient generation of osteoclasts from human induced pluripotent stem cells and functional investigations of lethal CLCN7-related osteopetrosis.

Journal: Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research

Published: September 09, 2020

The Situation of Employed Doctors in Outpatient Care in Germany: Results of an Empirical Study

The Situation of Employed Doctors in Outpatient Care in Germany: Results of an Empirical Study

Journal: Gesundheitswesen (Bundesverband der Arzte des Offentlichen Gesundheitsdienstes (Germany))

Published: October 10, 2019

Pathological mechanism and antisense oligonucleotide-mediated rescue of a non-coding variant suppressing factor 9 RNA biogenesis leading to hemophilia B.

Pathological mechanism and antisense oligonucleotide-mediated rescue of a non-coding variant suppressing factor 9 RNA biogenesis leading to hemophilia B.

Journal: PLoS genetics

Published: September 10, 2019

Showing 1-11 of 11

Last Updated: 09/26/2026