# Laurence Faivre

**Type:** Researchers  
**Canonical URL:** https://scholariq.org/researchers/laurence-faivre/

## Facts

| Field | Value |
| --- | --- |
| Citations | 33,780 |
| Field | Genomics and Rare Diseases |
| h-index | 86 |
| i10-index | 409 |
| Last Known Institution | Inserm |
| OpenAlex ID | https://openalex.org/A5024331920 |
| ORCID iD | https://orcid.org/0000-0001-9770-444X |
| Works | 707 |

## Researcher papers

- [Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling](https://scholariq.org/papers/gain-of-function-mutations-in-ifih1-cause-a-spectrum-of-human-disease-phenotypes/)
- [Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus](https://scholariq.org/papers/mirror-extreme-bmi-phenotypes-associated-with-gene-dosage-at-the-chromosome/)
- [Safety and efficacy of low-dose sirolimus in the PIK3CA-related overgrowth spectrum](https://scholariq.org/papers/safety-and-efficacy-of-low-dose-sirolimus-in-the-pik3ca-related-overgrowth/)
- [Genome-wide association analyses identify new Brugada syndrome risk loci and highlight a new mechanism of sodium channel regulation in disease susceptibility](https://scholariq.org/papers/genome-wide-association-analyses-identify-new-brugada-syndrome-risk-loci-and/)

## 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/)
- [Genomic variations and chromosomal abnormalities](https://scholariq.org/topics/genomic-variations-and-chromosomal-abnormalities/)
- [Connective tissue disorders research](https://scholariq.org/topics/connective-tissue-disorders-research/)
- [Congenital heart defects research](https://scholariq.org/topics/congenital-heart-defects-research/)

## 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.