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Rebecca C. Ahrens‐Nicklas

Children's Hospital of Philadelphia

ORCID: 0000-0001-8243-7123

Publishes on Lysosomal Storage Disorders Research, Metabolism and Genetic Disorders, Genomics and Rare Diseases. 152 papers and 1.8k citations.

PubIndex Score98Top 2% · mid-careerHow it's scored

152Publications

1.8kTotal Citations

First publication: 2009First senior author: 2019

Lysosomal Storage Disorders Research Metabolism and Genetic Disorders Genomics and Rare Diseases Mitochondrial Function and Pathology CRISPR and Genetic Engineering

Top publicationsby citations

Patient-Specific In Vivo Gene Editing to Treat a Rare Genetic Disease

Kiran Musunuru, Rebecca C. Ahrens‐Nicklas, Michael Jepperson et al.|New England Journal of Medicine|2025

Cited by 272

Consensus guidelines for the monitoring and management of metachromatic leukodystrophy in the United States

Laura Adang, Adeline Vanderver, Joshua L. Bonkowsky et al.|Cytotherapy|2024

Cited by 25

The variability of <scp><i>SMARCA4</i></scp>‐related <scp>Coffin–Siris</scp> syndrome: Do nonsense candidate variants add to milder phenotypes?

Dong Li, Samantha A. Schrier Vergano, Rebecca C. Ahrens‐Nicklas et al.|American Journal of Medical Genetics Part A|2020

Cited by 23

KOLF2.1J iPSCs carry CNVs associated with neurodevelopmental disorders

Carolina Gracia-Diaz, Naiara Akizu, Jonathan E. Perdomo et al.|Cell stem cell|2024

Cited by 18

A novel iPSC model reveals selective vulnerability of neurons in multiple sulfatase deficiency

Vi Pham, Rebecca C. Ahrens‐Nicklas|Molecular Genetics and Metabolism|2023

Cited by 7