Martje Pauly

14PUBLICATIONS
140CO-AUTHORS
Paediatrics not elsewhere classifiedGene mappingNeurogeneticsEpigenetics (incl. genome methylation and epigenomics)Gene and molecular therapy
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Publications (14)

|Jul 18, 2026
Beyond Ocular Malformations: RARB Variants Presenting as Isolated Pediatric Movement Disorder.

|Feb 14, 2026
Loss-of-function variants in the CAPN1 activator CD99L2 cause X-linked spastic ataxia.

Benita Menden, Rana D Incebacak Eltemur, German Demidov

|Jun 24, 2025
Author Correction: Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.

Axel Schmidt, Magdalena Danyel, Kathrin Grundmann

|Jun 19, 2025
Publisher Correction: Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.

Steven Laurie, Wouter Steyaert, Elke de Boer

|Jan 17, 2025
Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.

Steven Laurie, Wouter Steyaert, Elke de Boer

|Jul 22, 2024
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.

Axel Schmidt, Magdalena Danyel, Kathrin Grundmann

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Frequent Collaborators

10 joint publications

Katja Lohmann

5 joint publications

Tobias Haack

5 joint publications

Marc Sturm

4 joint publications

Norbert Brüggemann