# Matias Wagner

**Type:** Researchers  
**Canonical URL:** https://scholariq.org/researchers/matias-wagner/

## Facts

| Field | Value |
| --- | --- |
| Citations | 4,982 |
| Field | Genomics and Rare Diseases |
| h-index | 39 |
| i10-index | 122 |
| Last Known Institution | Helmholtz Munich |
| OpenAlex ID | https://openalex.org/A5058658794 |
| ORCID iD | 0000-0002-4454-8823 |
| Works | 258 |

## Researcher papers

- [GestaltMatcher facilitates rare disease matching using facial phenotype descriptors](https://scholariq.org/papers/gestaltmatcher-facilitates-rare-disease-matching-using-facial-phenotype/)
- [Monogenic variants in dystonia: an exome-wide sequencing study](https://scholariq.org/papers/monogenic-variants-in-dystonia-an-exome-wide-sequencing-study/)
- [Clinical implementation of RNA sequencing for Mendelian disease diagnostics](https://scholariq.org/papers/clinical-implementation-of-rna-sequencing-for-mendelian-disease-diagnostics/)
- [Impaired complex I repair causes recessive Leber’s hereditary optic neuropathy](https://scholariq.org/papers/impaired-complex-i-repair-causes-recessive-leber-s-hereditary-optic-neuropathy/)
- [Opposite microglial activation stages upon loss of PGRN or TREM2 result in reduced cerebral glucose metabolism](https://scholariq.org/papers/opposite-microglial-activation-stages-upon-loss-of-pgrn-or-trem2-result-in/)
- [<i>De novo</i> variants in neurodevelopmental disorders—experiences from a tertiary care center](https://scholariq.org/papers/i-de-novo-i-variants-in-neurodevelopmental-disorders-experiences-from-a-tertiary/)
- [Loss‐of‐Function Variants in <scp>HOPS</scp> Complex Genes <scp><i>VPS16</i></scp> and <scp><i>VPS41</i></scp> Cause Early Onset Dystonia Associated with Lysosomal Abnormalities](https://scholariq.org/papers/loss-of-function-variants-in-scp-hops-scp-complex-genes-scp-i-vps16-i-scp-and/)
- [Histone H3.3 beyond cancer: Germline mutations in <i>Histone 3 Family 3A and 3B</i> cause a previously unidentified neurodegenerative disorder in 46 patients](https://scholariq.org/papers/histone-h3-3-beyond-cancer-germline-mutations-in-i-histone-3-family-3a-and-3b-i/)
- [Multisystem inflammation and susceptibility to viral infections in human ZNFX1 deficiency](https://scholariq.org/papers/multisystem-inflammation-and-susceptibility-to-viral-infections-in-human-znfx1/)
- [Mitochondrial DNA mutation analysis from exome sequencing—A more holistic approach in diagnostics of suspected mitochondrial disease](https://scholariq.org/papers/mitochondrial-dna-mutation-analysis-from-exome-sequencing-a-more-holistic/)
- [Identification of disease-causing variants by comprehensive genetic testing with exome sequencing in adults with suspicion of hereditary FSGS](https://scholariq.org/papers/identification-of-disease-causing-variants-by-comprehensive-genetic-testing-with/)

## Researcher topics

- [Genomics and Rare Diseases](https://scholariq.org/topics/genomics-and-rare-diseases/)
- [Genetics and Neurodevelopmental Disorders](https://scholariq.org/topics/genetics-and-neurodevelopmental-disorders/)
- [Mitochondrial Function and Pathology](https://scholariq.org/topics/mitochondrial-function-and-pathology/)
- [Metabolism and Genetic Disorders](https://scholariq.org/topics/metabolism-and-genetic-disorders/)
- [Hereditary Neurological Disorders](https://scholariq.org/topics/hereditary-neurological-disorders/)

## Researcher university

- [Helmholtz Munich](https://scholariq.org/institutions/helmholtz-munich/)

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Source: ScholarIQ — public research metadata, principally OpenAlex. See https://scholariq.org/sources/ for provenance and https://scholariq.org/methodology/ for what these figures mean.