# Clinical implementation of RNA sequencing for Mendelian disease diagnostics

**Type:** Papers  
**Canonical URL:** https://scholariq.org/papers/clinical-implementation-of-rna-sequencing-for-mendelian-disease-diagnostics/

## Facts

| Field | Value |
| --- | --- |
| Author Names | Vicente A. Yépez,Mirjana Gušić,Robert Kopajtich,Christian Mertes,Nicholas H. Smith,Charlotte L. Alston,Rui Ban,Skadi Beblo,Riccardo Berutti,Holger Blessing,Elżbieta Ciara,Felix Distelmaier,Peter Freisinger,Johannes Häberle,Susan J. Hayflick,Maja Hempel,Yulia S. Itkis,Yoshihito Kishita,Thomas Klopstock,Tatiana Krylova,Costanza Lamperti,Dominic Lenz,Christine Makowski,Signe Mosegaard,Michaela Müller,Gerard Muñoz‐Pujol,Agnieszka Nadel,Akira Ohtake,Yasushi Okazaki,Elena Procopio,Thomas Schwarzmayr,Joél Smet,Christian Staufner,Sarah L. Stenton,Tim M. Strom,Caterina Terrile,Frederic Tort,Rudy Van Coster,Arnaud Vanlander,Matias Wagner,Manting Xu,Fang Fang,Daniele Ghezzi,Johannes A. Mayr,Dorota Piekutowska‐Abramczuk,Antònia Ribes,Agnès Rötig,Robert W. Taylor,Saskia B. Wortmann,Kei Murayama,Thomas Meitinger,Julien Gagneur,Holger Prokisch |
| Citations | 213 |
| DOI | 10.1186/s13073-022-01019-9 |
| Fields | Biochemistry, Genetics and Molecular Biology,Neuroscience |
| Open Access | true |
| OA Status | gold |
| OA URL | https://genomemedicine.biomedcentral.com/track/pdf/10.1186/s13073-022-01019-9 |
| OpenAlex ID | https://openalex.org/W4226219550 |
| PMID | 35379322 |
| Type | article |
| Year | 2022 |

## Paper authors

- [Thomas Meitinger](https://scholariq.org/researchers/thomas-meitinger/)
- [Thomas Klopstock](https://scholariq.org/researchers/thomas-klopstock/)
- [Matias Wagner](https://scholariq.org/researchers/matias-wagner/)
- [Tim M. Strom](https://scholariq.org/researchers/tim-m-strom/)

## Paper primary topic

- [Genomics and Rare Diseases](https://scholariq.org/topics/genomics-and-rare-diseases/)

## Paper topics

- [Genomics and Rare Diseases](https://scholariq.org/topics/genomics-and-rare-diseases/)
- [Mitochondrial Function and Pathology](https://scholariq.org/topics/mitochondrial-function-and-pathology/)
- [Genetic Neurodegenerative Diseases](https://scholariq.org/topics/genetic-neurodegenerative-diseases/)

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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.