# Didier Lacombe

**Type:** Researchers  
**Canonical URL:** https://scholariq.org/researchers/didier-lacombe/

## Facts

| Field | Value |
| --- | --- |
| Citations | 25,953 |
| Field | Genomic variations and chromosomal abnormalities |
| h-index | 85 |
| i10-index | 348 |
| Last Known Institution | Université de Bordeaux |
| OpenAlex ID | https://openalex.org/A5081642866 |
| ORCID iD | https://orcid.org/0000-0002-8956-2207 |
| Works | 642 |

## Researcher papers

- [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/)
- [Clinical and Molecular Phenotype of Aicardi-Goutières Syndrome](https://scholariq.org/papers/clinical-and-molecular-phenotype-of-aicardi-goutieres-syndrome/)
- [Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities](https://scholariq.org/papers/defining-the-effect-of-the-16p11-2-duplication-on-cognition-behavior-and-medical/)
- [SLC26A4 gene is frequently involved in nonsyndromic hearing impairment with enlarged vestibular aqueduct in Caucasian populations](https://scholariq.org/papers/slc26a4-gene-is-frequently-involved-in-nonsyndromic-hearing-impairment-with/)

## Researcher topics

- [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/)
- [Genetics and Neurodevelopmental Disorders](https://scholariq.org/topics/genetics-and-neurodevelopmental-disorders/)
- [Congenital limb and hand anomalies](https://scholariq.org/topics/congenital-limb-and-hand-anomalies/)
- [Lysosomal Storage Disorders Research](https://scholariq.org/topics/lysosomal-storage-disorders-research/)

## Researcher university

- [Université de Bordeaux](https://scholariq.org/institutions/universite-de-bordeaux/)

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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.