# Bertrand Isidor

**Type:** Researchers  
**Canonical URL:** https://scholariq.org/researchers/bertrand-isidor/

## Facts

| Field | Value |
| --- | --- |
| Citations | 17,657 |
| Field | Genetics and Neurodevelopmental Disorders |
| h-index | 73 |
| i10-index | 268 |
| Last Known Institution | Centre National de la Recherche Scientifique |
| OpenAlex ID | https://openalex.org/A5061462589 |
| ORCID iD | https://orcid.org/0000-0001-6480-126X |
| Works | 461 |

## Researcher papers

- [Characterization of human disease phenotypes associated with mutations in <i>TREX1</i>, <i>RNASEH2A</i>, <i>RNASEH2B</i>, <i>RNASEH2C</i>, <i>SAMHD1</i>, <i>ADAR</i>, and <i>IFIH1</i>](https://scholariq.org/papers/characterization-of-human-disease-phenotypes-associated-with-mutations-in-i/)
- [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/)
- [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/)
- [De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability](https://scholariq.org/papers/de-novo-mutations-in-protein-kinase-genes-camk2a-and-camk2b-cause-intellectual/)
- [Natural history of GATA2 deficiency in a survey of 79 French and Belgian patients](https://scholariq.org/papers/natural-history-of-gata2-deficiency-in-a-survey-of-79-french-and-belgian/)
- [Mutational, functional, and expression studies of the<i>TCF4</i>gene in Pitt-Hopkins syndrome](https://scholariq.org/papers/mutational-functional-and-expression-studies-of-the-i-tcf4-i-gene-in-pitt/)

## Researcher topics

- [Genetics and Neurodevelopmental Disorders](https://scholariq.org/topics/genetics-and-neurodevelopmental-disorders/)
- [Genomics and Rare Diseases](https://scholariq.org/topics/genomics-and-rare-diseases/)
- [Genomic variations and chromosomal abnormalities](https://scholariq.org/topics/genomic-variations-and-chromosomal-abnormalities/)
- [Congenital heart defects research](https://scholariq.org/topics/congenital-heart-defects-research/)
- [RNA modifications and cancer](https://scholariq.org/topics/rna-modifications-and-cancer/)

## Researcher university

- [Centre National de la Recherche Scientifique](https://scholariq.org/institutions/centre-national-de-la-recherche-scientifique/)

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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.