Peter Bauer

Centogene (Germany) — Germany

Biochemistry, Genetics and Molecular Biology · Life Sciences

65h-index21.3kcitations479works3.52yr avg
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Research Topics

Genomics and Rare Diseases(61), Lysosomal Storage Disorders Research(48), Genetics and Neurodevelopmental Disorders(48), Parkinson's Disease Mechanisms and Treatments(40), Neurological diseases and metabolism(32)

Publications475 total

Retinal structural changes in Parkinson's disease: differences in pRNFL thickness between GBA1-associated and idiopathic cases
Parkinsonism & Related Disorders·2025Open Access
How many do we miss? - Evaluation of age at onset and family history as selection criteria for genetic testing in Parkinson’s disease
2025Open Access
Dermatose épidermodysplasie verruciforme-like révélant une nouvelle mutation du gène CARMIL2
Annales de Dermatologie et de Vénéréologie - FMC·2025
<i>EIPR1</i> variants cause a neurodevelopmental disorder with endolysosomal and dense core vesicle defects
Brain·2025
Artificial Intelligence Predicts <scp> <i>GBA1</i> </scp> Mutated Status in Parkinson's Disease Patients
Movement Disorders Clinical Practice·2025· 1 citedOpen Access
PPM1M, an LRRK2-counteracting, phosphoRab12-preferring phosphatase with a potential link to Parkinson’s disease
Cell Reports·2025· 1 citedOpen Access
Biallelic Variants in <i>TMEM17</i> Cause Meckel‐Gruber Syndrome Within the Ciliopathy Spectrum
Clinical Genetics·2025
Genetic testing for Parkinson's disease in Israel: Insights from the Rostock Parkinson's Disease (ROPAD) study
Parkinsonism & Related Disorders·2025· 2 citedOpen Access
A Retrospective Cohort Study of the GLA c.937G &gt; T, p.Asp313Tyr Variant With No Evidence of an Association With Fabry Disease
Neurology Genetics·2025Open Access
Prodromal Parkinsonian Features in Carriers of Gaucher Disease Compared to Controls
Life·2025Open Access
<i>RAB32</i> -linked Parkinson’s disease: Deep phenotyping, MDSGene literature review, and application of SynNeurGe criteria
2025Open Access
<i>RNU4-2</i> monoallelic variants as a leading cause of syndromic neurodevelopmental disorder, including in patients with parental consanguinity
Journal of Medical Genetics·2025· 3 citedOpen Access
Author response for "Biallelic Variants in &lt;i&gt;TMEM17&lt;/i&gt; Cause Meckel‐Gruber Syndrome Within the Ciliopathy Spectrum"
2025
Bi-allelic pathogenic variants in TRMT1 disrupt tRNA modification and induce a neurodevelopmental disorder
The American Journal of Human Genetics·2025· 5 citedOpen Access
FBXO22 deficiency defines a pleiotropic syndrome of growth restriction and multi-system anomalies associated with a unique epigenetic signature
The American Journal of Human Genetics·2025Open Access
Heterozygous <i>RAB3A</i> variants cause cerebellar ataxia by a partial loss-of-function mechanism
Brain·2025· 4 cited
PPM1M, a LRRK2-counteracting, phosphoRab12-preferring phosphatase with potential link to Parkinson’s disease
2025· 2 citedOpen Access
RNA methyltransferase SPOUT1/CENP-32 links mitotic spindle organization with the neurodevelopmental disorder SpADMiSS
Nature Communications·2025Open Access
Beyond genomics: using RNA-seq from dried blood spots to unlock the clinical relevance of splicing variation in a diagnostic setting
European Journal of Human Genetics·2025· 5 citedOpen Access
P740: Impact of gene-disease relationship curation on patient diagnostics and panel design
Genetics in Medicine Open·2025Open Access
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Frequent Co-authors

Lüdger Schöls(11), Philipp Metnitz(9), Rebecca Schüle(9), Marc Sturm(7), Matthis Synofzik(6), Olaf Rieß(6), Rui P. Moreno(5), Wilfred Druml(5), Maurizia Capuzzo(4), Barbara Metnitz(4), Christine Klein(4), Claudia Stendel(4), Arndt Rolfs(4), Barbara Jordan(3), Kirsten I. Bos(3), Johannes Krause(3), Gert Matthijs(3), Erika Souche(3), Sebastian Eck(3), Marjan M. Weiss(3)