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Person

Marc Sturm

Informatiker

Name	Marc Sturm
Academic degree	Dr. rer. nat.
Profession	Informatiker (characteristic profession)
Further information	Diss. Universität Tübingen, Fakultät für Informations- und Kognitionswissenschaften (2010)
Record type	Person
GND-Identifier	136626815
Record ID	136626815
Involved in show all Identification and characterisation of pathogenic and non-pathogenic FGF14 repeat expansions Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings Model matchmaking via the Solve-RD Rare Disease Models & Mechanisms Network (RDMM-Europe) Multiomic ALS signatures highlight subclusters and sex differences suggesting the MAPK pathway as therapeutic target Resequencing the complete SNCA locus in Indian patients with Parkinson’s disease Genomes in clinical care Recommendations for whole genome sequencing in diagnostics for rare diseases Investigating the effects of additional truncating variants in DNA-repair genes on breast cancer risk in BRCA1-positive women Clinical and genetic characteristics of sporadic adult-onset degenerative ataxia OpenMS - a framework for computational mass spectrometry OpenMS - a framework for computational mass spectrometry A machine learning approach for prediction of DNA and peptide HPLC retention times : (extended abstract)

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Katalog der Deutschen Nationalbibliothek

Marc Sturm

Identification and characterisation of pathogenic and non-pathogenic FGF14 repeat expansions

Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings

Model matchmaking via the Solve-RD Rare Disease Models & Mechanisms Network (RDMM-Europe)

Multiomic ALS signatures highlight subclusters and sex differences suggesting the MAPK pathway as therapeutic target

Resequencing the complete SNCA locus in Indian patients with Parkinson’s disease

Genomes in clinical care

Recommendations for whole genome sequencing in diagnostics for rare diseases

Investigating the effects of additional truncating variants in DNA-repair genes on breast cancer risk in BRCA1-positive women

Clinical and genetic characteristics of sporadic adult-onset degenerative ataxia

OpenMS - a framework for computational mass spectrometry

OpenMS - a framework for computational mass spectrometry

A machine learning approach for prediction of DNA and peptide HPLC retention times : (extended abstract)