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List of works by Marc Sturm

Biallelic variants in the transcription factor PAX7 are a new genetic cause of myopathy

scientific article published on 16 May 2019

De novo variants in SLC12A6 cause sporadic early-onset progressive sensorimotor neuropathy

scientific article published on 22 August 2019

Genetic Architecture of Parkinson's Disease in the Indian Population: Harnessing Genetic Diversity to Address Critical Gaps in Parkinson's Disease Research

scientific article published on 18 June 2020

Guidelines for diagnostic next-generation sequencing

scientific article published on 28 October 2015

Guidelines for diagnostic next-generation sequencing

scientific article published on October 2016

HBOC multi-gene panel testing: comparison of two sequencing centers

scientific article

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

scientific article published on 08 August 2019

KCNC1-related disorders: new de novo variants expand the phenotypic spectrum

scientific article published on 07 June 2019

Loss of function of PGAP1 as a cause of severe encephalopathy identified by Whole Exome Sequencing: Lessons of the bioinformatics pipeline

scientific article published on 4 June 2015

Monoallelic BMP2 Variants Predicted to Result in Haploinsufficiency Cause Craniofacial, Skeletal, and Cardiac Features Overlapping Those of 20p12 Deletions

scientific article

Novel HIVEP2 Variants in Patients with Intellectual Disability

scientific article published on 03 April 2019

OpenMS - an open-source software framework for mass spectrometry

scientific article

Personalized peptide vaccine-induced immune response associated with long-term survival of a metastatic cholangiocarcinoma patient

scientific article published on 7 July 2016

Single Molecule Molecular Inversion Probes for High Throughput Germline Screenings in Dystonia

scientific article published on 18 December 2019

Understanding the role of genetic variability in LRRK2 in Indian population

scientific article published on 28 November 2018

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