Peter Bauer

48PUBLICATIONS
368CO-AUTHORS
Epigenetics (incl. genome methylation and epigenomics)Developmental genetics (incl. sex determination)Gene mappingMedical infection agents (incl. prions)Gene expression (incl. microarray and other genome-wide approaches)
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Publications (48)

|Jul 28, 2026
Consensus recommendations for next-generation sequencing-based genetic testing in Rare Neurological diseases.

|May 13, 2026
Glucosylsphingosine (Lyso-Gb1) Dynamics in Untreated States in Gaucher Disease.

|Jan 14, 2026
A transposase-derived gene required for human brain development.

Luz Jubierre Zapater, Sara A Lewis, Rodrigo Lopez Gutierrez

|Jan 02, 2026
How many do we miss? - Evaluation of age at onset and family history as selection criteria for genetic testing in Parkinson's disease.

Alexander Balck, Eva-Juliane Vollstedt, Ana Westenberger

|Oct 07, 2025
Biallelic Variants in TMEM17 Cause Meckel-Gruber Syndrome Within the Ciliopathy Spectrum.

Luba M Pardo, Javier Martini, Emir Zonic

|Jun 30, 2025
A Retrospective Cohort Study of the GLA c.937G > T, p.Asp313Tyr Variant With No Evidence of an Association With Fabry Disease.

Tobias Boettcher, Christian Beetz, Daniel Schulze

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Frequent Collaborators

18 joint publications

Aida M Bertoli-Avella

16 joint publications

Christian Beetz

7 joint publications

Henry Houlden

6 joint publications

Ana Westenberger