# Jill A. Rosenfeld

**Type:** Researchers  
**Canonical URL:** https://scholariq.org/researchers/jill-a-rosenfeld/

## Facts

| Field | Value |
| --- | --- |
| Citations | 31,494 |
| Field | Genomic variations and chromosomal abnormalities |
| h-index | 94 |
| i10-index | 366 |
| Last Known Institution | Baylor College of Medicine |
| OpenAlex ID | https://openalex.org/A5051066678 |
| ORCID iD | https://orcid.org/0000-0001-5664-7987 |
| Works | 609 |

## Researcher papers

- [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/)
- [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/)
- [Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders](https://scholariq.org/papers/large-scale-targeted-sequencing-identifies-risk-genes-for-neurodevelopmental/)
- [Insights into genetics, human biology and disease gleaned from family based genomic studies](https://scholariq.org/papers/insights-into-genetics-human-biology-and-disease-gleaned-from-family-based/)
- [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/)
- [Exonic Deletions in AUTS2 Cause a Syndromic Form of Intellectual Disability and Suggest a Critical Role for the C Terminus](https://scholariq.org/papers/exonic-deletions-in-auts2-cause-a-syndromic-form-of-intellectual-disability-and/)
- [Loss- or Gain-of-Function Mutations in ACOX1 Cause Axonal Loss via Different Mechanisms](https://scholariq.org/papers/loss-or-gain-of-function-mutations-in-acox1-cause-axonal-loss-via-different/)

## 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 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

- [Baylor College of Medicine](https://scholariq.org/institutions/baylor-college-of-medicine/)

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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.