Eva Maria Christina Schwaibold

8PUBLICATIONS
136CO-AUTHORS
Gene mappingGenome structure and regulationEpigenetics (incl. genome methylation and epigenomics)NeonatologyGene expression (incl. microarray and other genome-wide approaches)
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Publications (8)

|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

|Aug 05, 2025
A programmed decline in ribosome levels governs human early neurodevelopment.

Chunyang Ni, Yudong Wei, Barbara Vona

|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

|Nov 08, 2023
Exome sequencing (ES) of a pediatric cohort with chronic endocrine diseases: a single-center study (within the framework of the TRANSLATE-NAMSE project).

Sebastian Gippert, Matias Wagner, Theresa Brunet

|May 13, 2021
Pathogenic variants in SMARCA5, a chromatin remodeler, cause a range of syndromic neurodevelopmental features.

Dong Li, Qin Wang, Naihua N Gong

|Nov 16, 2020
A boy with Silver-Russell syndrome and Sotos syndrome.

Eva M C Schwaibold, Jasmin Beygo, Katharina Obeid

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Frequent Collaborators

4 joint publications

Tobias Haack

4 joint publications

Melanie Brugger

3 joint publications

Axel Schmidt

3 joint publications

Martje Pauly