# Patrick Nitschké

**Type:** Researchers  
**Canonical URL:** https://scholariq.org/researchers/patrick-nitschke/

## Facts

| Field | Value |
| --- | --- |
| Citations | 17,580 |
| Field | Genomics and Rare Diseases |
| h-index | 61 |
| i10-index | 127 |
| Last Known Institution | Inserm |
| OpenAlex ID | https://openalex.org/A5028326580 |
| ORCID iD | https://orcid.org/0000-0002-2094-3298 |
| Works | 209 |

## Researcher papers

- [Gain-of-function human <i>STAT1</i> mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis](https://scholariq.org/papers/gain-of-function-human-i-stat1-i-mutations-impair-il-17-immunity-and-underlie/)
- [De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy](https://scholariq.org/papers/de-novo-gain-of-function-kcnt1-channel-mutations-cause-malignant-migrating/)
- [Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly](https://scholariq.org/papers/mutations-in-tubg1-dync1h1-kif5c-and-kif2a-cause-malformations-of-cortical/)
- [ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption](https://scholariq.org/papers/adck4-mutations-promote-steroid-resistant-nephrotic-syndrome-through-coq10/)
- [Defects in the IFT-B Component IFT172 Cause Jeune and Mainzer-Saldino Syndromes in Humans](https://scholariq.org/papers/defects-in-the-ift-b-component-ift172-cause-jeune-and-mainzer-saldino-syndromes/)

## Researcher topics

- [Genomics and Rare Diseases](https://scholariq.org/topics/genomics-and-rare-diseases/)
- [Genetic and Kidney Cyst Diseases](https://scholariq.org/topics/genetic-and-kidney-cyst-diseases/)
- [Renal and related cancers](https://scholariq.org/topics/renal-and-related-cancers/)
- [Immunodeficiency and Autoimmune Disorders](https://scholariq.org/topics/immunodeficiency-and-autoimmune-disorders/)
- [RNA modifications and cancer](https://scholariq.org/topics/rna-modifications-and-cancer/)

## Researcher university

- [Inserm](https://scholariq.org/institutions/inserm/)

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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.