Peter Bauer

Chief Medical & Genomic Officer

Germany

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About

Peter Bauer serves as the Chief Medical & Genomic Officer at Centogene GmbH in Germany. His research focuses on genetic disorders, including Gaucher Disease and hereditary transthyretin-related amyloidosis, with recent publications exploring predictive biomarkers and gene-disease associations. He is also involved in genomic sequencing studies aimed at understanding various clinical conditions and their genetic underpinnings.

Articles (12)

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2025

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2024

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2024

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2024

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2023

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2023

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2022

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2021

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2021

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2021

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2021

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2020

Collaborators (4)

Ulrike Grittner

Charité - Universitätsmedizin Berlin

GERMANY

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Ayman W. El‐Hattab

UNITED ARAB EMIRATES

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Ana Westenberger

GERMANY

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Luba M Pardo

Erasmus University Medical Center

NETHERLANDS

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Peter Bauer

Research Interests

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Articles (12)

Prodromal Parkinsonian Features in Carriers of Gaucher Disease Compared to Controls

Whole genome sequencing in adults with clinical hallmarks of hypophosphatasia negative for ALPL variants

Adding to the evidence of gene‐disease association of RAP1B and syndromic thrombocytopenia

Hereditary Transthyretin-Related Amyloidosis Ongoing Observational Study: A Baseline Report of the First 3167 Participants

Insights into the Value of Lyso-Gb1 as a Predictive Biomarker in Treatment-Naïve Patients with Gaucher Disease Type 1 in the LYSO-PROOF Study

Basic ctDNA Panel Promises Affordable Clinical Validity in Colon Cancer Patients but Not in Pancreas Cancer Patients

Comorbid palmoplantar keratoderma type 1A and Loeys‐Dietz syndrome type 3 in a patient with a chromosome 15 microdeletion

Biallelic loss‐of‐function HACD1 variants are a bona fide cause of congenital myopathy

A novel c.671_682del NCSTN variant in a family with hidradenitis suppurativa: a pilot study

Reply letter to Battke et al.

An X‐linked syndrome with severe neurodevelopmental delay, hydrocephalus, and early lethality caused by a missense variation in the OTUD5 gene

VPS26C homozygous nonsense variant in two cousins with neurodevelopmental deficits, growth failure, skeletal abnormalities, and distinctive facial features

Collaborators (4)

Ulrike Grittner

Ayman W. El‐Hattab

Ana Westenberger

Luba M Pardo

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