Bernt Popp

24PUBLICATIONS
128CO-AUTHORS
NeurogeneticsMedical biotechnology diagnostics (incl. biosensors)Gene expression (incl. microarray and other genome-wide approaches)Epigenetics (incl. genome methylation and epigenomics)Neurology and neuromuscular diseases
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Publications (24)

|Jul 27, 2026
Further characterization of the BRSK2-associated neurodevelopmental disorder.

|Oct 28, 2024
The MorbidGenes panel: a monthly updated list of diagnostically relevant rare disease genes derived from diverse sources.

Robin-Tobias Jauss, Bernt Popp, Joachim Bachmann

|Jul 17, 2023
Re-evaluation and re-analysis of 152 research exomes five years after the initial report reveals clinically relevant changes in 18.

Tobias Bartolomaeus, Julia Hentschel, Rami Abou Jamra

|Jan 21, 2023
Approach to Cohort-Wide Re-Analysis of Exome Data in 1000 Individuals with Neurodevelopmental Disorders.

Insa Halfmeyer, Tobias Bartolomaeus, Bernt Popp

|Nov 25, 2022
Genetic and phenotypic spectrum in the NONO-associated syndromic disorder.

Franziska Roessler, Anita E Beck, Ball Susie

|Oct 03, 2022
The constitutional gain-of-function variant p.Glu1099Lys in NSD2 is associated with a novel syndrome.

Bernt Popp, Melanie Brugger, Sibylle Poschmann

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Frequent Collaborators

8 joint publications

Rami Abou Jamra

7 joint publications

Arif B Ekici

7 joint publications

André Reis

5 joint publications

Georgia Vasileiou