# Vincent des Portes

**Type:** Researchers  
**Canonical URL:** https://scholariq.org/researchers/vincent-des-portes/

## Facts

| Field | Value |
| --- | --- |
| Citations | 8,563 |
| Field | Genetics and Neurodevelopmental Disorders |
| h-index | 44 |
| i10-index | 98 |
| Last Known Institution | Lyon 1 Université |
| OpenAlex ID | https://openalex.org/A5107898979 |
| Works | 180 |

## Researcher papers

- [Fragile X Premutation Tremor/Ataxia Syndrome: Molecular, Clinical, and Neuroimaging Correlates](https://scholariq.org/papers/fragile-x-premutation-tremor-ataxia-syndrome-molecular-clinical-and-neuroimaging/)
- [A Novel CNS Gene Required for Neuronal Migration and Involved in X-Linked Subcortical Laminar Heterotopia and Lissencephaly Syndrome](https://scholariq.org/papers/a-novel-cns-gene-required-for-neuronal-migration-and-involved-in-x-linked/)
- [Epigenetic Modification of the <i>FMR1</i> Gene in Fragile X Syndrome Is Associated with Differential Response to the mGluR5 Antagonist AFQ056](https://scholariq.org/papers/epigenetic-modification-of-the-i-fmr1-i-gene-in-fragile-x-syndrome-is-associated/)
- [Oligophrenin-1 encodes a rhoGAP protein involved in X-linked mental retardation](https://scholariq.org/papers/oligophrenin-1-encodes-a-rhogap-protein-involved-in-x-linked-mental-retardation/)
- [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/)
- [Drug development for neurodevelopmental disorders: lessons learned from fragile X syndrome](https://scholariq.org/papers/drug-development-for-neurodevelopmental-disorders-lessons-learned-from-fragile-x/)
- [Mavoglurant in fragile X syndrome: Results of two randomized, double-blind, placebo-controlled trials](https://scholariq.org/papers/mavoglurant-in-fragile-x-syndrome-results-of-two-randomized-double-blind-placebo/)
- [A new gene involved in X-linked mental retardation identified by analysis of an X;2 balanced translocation](https://scholariq.org/papers/a-new-gene-involved-in-x-linked-mental-retardation-identified-by-analysis-of-an/)
- [PQBP1 Is a Proximal Sensor of the cGAS-Dependent Innate Response to HIV-1](https://scholariq.org/papers/pqbp1-is-a-proximal-sensor-of-the-cgas-dependent-innate-response-to-hiv-1/)
- [The three stages of epilepsy in patients with <i>CDKL5</i> mutations](https://scholariq.org/papers/the-three-stages-of-epilepsy-in-patients-with-i-cdkl5-i-mutations/)
- [Clinical Characteristics, Developmental Trajectory, and Caregiver Burden of Patients With Creatine Transporter Deficiency ( <i>SLC6A8</i> )](https://scholariq.org/papers/clinical-characteristics-developmental-trajectory-and-caregiver-burden-of/)

## Researcher topics

- [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/)
- [Genomics and Rare Diseases](https://scholariq.org/topics/genomics-and-rare-diseases/)
- [Fetal and Pediatric Neurological Disorders](https://scholariq.org/topics/fetal-and-pediatric-neurological-disorders/)
- [Epilepsy research and treatment](https://scholariq.org/topics/epilepsy-research-and-treatment/)

## Researcher university

- [Lyon 1 Université](https://scholariq.org/institutions/lyon-1-universite/)

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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.