# Carlos A. Bacino

**Type:** Researchers  
**Canonical URL:** https://scholariq.org/researchers/carlos-a-bacino/

## Facts

| Field | Value |
| --- | --- |
| Citations | 18,144 |
| Field | Genomic variations and chromosomal abnormalities |
| h-index | 70 |
| i10-index | 196 |
| OpenAlex ID | https://openalex.org/A5011382435 |
| ORCID iD | https://orcid.org/0000-0002-4342-5012 |
| Works | 325 |

## Researcher papers

- [Genetic Heterogeneity in Rubinstein-Taybi Syndrome: Mutations in Both the CBP and EP300 Genes Cause Disease](https://scholariq.org/papers/genetic-heterogeneity-in-rubinstein-taybi-syndrome-mutations-in-both-the-cbp-and/)
- [High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies](https://scholariq.org/papers/high-rate-of-recurrent-de-novo-mutations-in-developmental-and-epileptic/)
- [Clinical and Molecular Phenotype of Aicardi-Goutières Syndrome](https://scholariq.org/papers/clinical-and-molecular-phenotype-of-aicardi-goutieres-syndrome/)
- [Once-daily, subcutaneous vosoritide therapy in children with achondroplasia: a randomised, double-blind, phase 3, placebo-controlled, multicentre trial](https://scholariq.org/papers/once-daily-subcutaneous-vosoritide-therapy-in-children-with-achondroplasia-a/)

## 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/)
- [Connective tissue disorders research](https://scholariq.org/topics/connective-tissue-disorders-research/)
- [Prenatal Screening and Diagnostics](https://scholariq.org/topics/prenatal-screening-and-diagnostics/)

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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.