Matias Wagner

Helmholtz Association of German Research Centres — Germany

Biochemistry, Genetics and Molecular Biology · Life Sciences

36h-index4.6kcitations253works4.12yr avg
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Research Topics

Genomics and Rare Diseases(79), Genetics and Neurodevelopmental Disorders(58), Metabolism and Genetic Disorders(31), Mitochondrial Function and Pathology(26), RNA modifications and cancer(21)

Publications243 total

Fibroblast transcriptomics in molecular diagnostics of a comprehensive dystonia cohort
2025Open Access
The genotypic and phenotypic landscape of <i>PDHA1</i> -related pyruvate dehydrogenase complex deficiency
Brain·2025Open Access
Dermatomyositis masking late onset Pompe disease in a patient with proximal muscle weakness
Journal of Neuromuscular Diseases·2025Open Access
The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder
The American Journal of Human Genetics·2025· 1 citedOpen Access
<i>De Novo</i> Variants in <scp> <i>PPFIA2</i> </scp> in Individuals With Neurodevelopmental Disorders
American Journal of Medical Genetics Part A·2025Open Access
Integrating Long‐Read Nanopore Sequencing for Precision Resolution of Genomic Variants in Dystonia
Movement Disorders·2025Open Access
Screening for Congenital Myasthenic Syndromes in Adults With Seronegative Myasthenia Gravis Using Next-Generation Sequencing
Neurology·2025· 1 cited
AlphaMissense prediction for the evaluation of missense variants in the diagnostic setting of neuromuscular disorders
Journal of Neuromuscular Diseases·2025· 1 citedOpen Access
ADAM23 haploinsufficiency as a putative oligogenic contributor in an individual with focal epilepsy
Seizure·2025Open Access
Antisense oligonucleotide therapies for monogenic disorders
Medizinische Genetik·2025· 2 citedOpen Access
Paediatric acute liver failure: A prospective, nationwide, population‐based surveillance study in Germany
Journal of Pediatric Gastroenterology and Nutrition·2025· 1 citedOpen Access
SPNS1 variants cause multiorgan disease and implicate lysophospholipid transport as critical for mTOR-regulated lipid homeostasis
Journal of Clinical Investigation·2025· 2 citedOpen Access
TXNIP is a critical regulator of human cardiometabolic health
2025· 1 citedOpen Access
Deciphering <i>DST</i> -associated disorders: biallelic variants affecting DST-b cause a congenital myopathy
Brain·2025Open Access
Hepatic Form of Dihydrolipoamide Dehydrogenase Deficiency ( <scp>DLDD</scp> ): Phenotypic Spectrum, Laboratory Findings, and Therapeutic Approaches in 52 Patients
Journal of Inherited Metabolic Disease·2025· 3 citedOpen Access
Antisense oligonucleotide treatment in a preterm infant with early-onset SCN2A developmental and epileptic encephalopathy
Nature Medicine·2025· 19 citedOpen Access
Estimating Lifetime Risk of Autosomal Recessive Kidney Diseases Using Population-Based Genotypic Data
Kidney International Reports·2025· 1 citedOpen Access
Holistic Exome-Based Genetic Testing in Adults With Epilepsy
Neurology Genetics·2025· 5 citedOpen Access
Distinct pathogenic mutations in ARF1 allow dissection of its dual role in cGAS-STING signalling
EMBO Reports·2025Open Access
DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders
UNC Libraries·2025Open Access
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Frequent Co-authors

Tim M. Strom(17), Saskia B. Wortmann(14), Holger Prokisch(12), Thomas Meitinger(11), Juliane Winkelmann(11), Riccardo Berutti(10), Johannes A. Mayr(10), Theresa Brunet(9), Julia Hoefele(8), Michael Zech(7), Felix Distelmaier(7), Christian Staufner(7), Robert Kopajtich(7), Maja Hempel(7), Thomas Klopstock(7), Dominic Lenz(7), Robert Jech(6), Dominik S. Westphal(6), Korbinian M. Riedhammer(6), Urania Kotzaeridou(6)