Rebecca C. Ahrens‐Nicklas

Also affiliated with University of Pennsylvania

MedicineBiochemistry, Genetics and Molecular Biology

Pilot corpus only

This score is computed over theSindex pilot corpus and does not cover the full scientific literature. Scores are relative to papers we have ingested — papers, authors, and institutions outside the pilot are not represented. Methodology.

Top 100%percentile

0Author DataRank

Indexed papers

0in pilot corpus

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Papers

Driven by 32 papers. Top paper: “Neuronal genetic rescue normalizes brain network dynamics in a lysosomal storage disorder despite persistent storage accumulation”.

Neuronal genetic rescue normalizes brain network dynamics in a lysosomal storage disorder despite persistent storage accumulation

Molecular Therapy(2022)10.1016/j.ymthe.2022.03.025

N/A

0.667DataRank · unranked

13 citations

Luis Tecedor, Arron F Hall, Owen Kane, Richard J. Chung, Елена Лысенко +4 more

Drug screening identifies tazarotene and bexarotene as therapeutic agents in multiple sulfatase deficiency

EMBO Molecular Medicine(2023)10.15252/emmm.202114837

N/A

0.651DataRank · unranked

17 citations

Karolina Tyka, Matthias Kettwig, Rebecca C. Ahrens‐Nicklas, Matthias G. J. Baud, Tea Berulava +16 more

Efficient in vivo prime editing corrects the most frequent phenylketonuria variant, associated with high unmet medical need

The American Journal of Human Genetics(2023)10.1016/j.ajhg.2023.10.005

N/A

0.561DataRank · unranked

41 citations

Madelynn N. Whittaker, Ping Qü, Kiran Musunuru, Rebecca C. Ahrens‐Nicklas, Xiao Wang +1 more

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

Cytotherapy(2024)10.1016/j.jcyt.2024.03.487

N/A

0.489DataRank · unranked

25 citations

Joshua L. Bonkowsky, Jaap Jan Boelens, Eric J. Mallack, Rebecca C. Ahrens‐Nicklas, John Bernat +27 more

KOLF2.1J iPSCs carry CNVs associated with neurodevelopmental disorders

Cell stem cell(2024)10.1016/j.stem.2024.02.007

N/A

0.442DataRank · unranked

18 citations

Jonathan E. Perdomo, Munir E. Khan, Thomas Roulé, Brianna Disanza, Gregory G. Cajka +12 more

How to create personalized gene editing platforms: Next steps toward interventional genetics

The American Journal of Human Genetics(2025)10.1016/j.ajhg.2025.10.006

N/A

0.373DataRank · unranked

11 citations

Kiran Musunuru, Rebecca C. Ahrens‐Nicklas

Biochemical signatures of disease severity in multiple sulfatase deficiency

Journal of Inherited Metabolic Disease(2023)10.1002/jimd.12688

N/A

0.330DataRank · unranked

8 citations

Samar Mowafy, Zackary M. Herbst, Zitao Zhou, Lars Schlotawa, Karthikeyan Radhakrishnan +11 more

Leiomodin 2 neonatal dilated cardiomyopathy mutation results in altered actin gene signatures and cardiomyocyte dysfunction

npj Regenerative Medicine(2024)10.1038/s41536-024-00366-y

N/A

0.292DataRank · unranked

6 citations

Christopher T. Pappas, Rachel M. Mayfield, Gerrie P. Farman, Rebecca C. Ahrens‐Nicklas, Jared M. Churko +2 more

Utility of genome sequencing in exome‐negative pediatric patients with neurodevelopmental phenotypes

American Journal of Medical Genetics Part A(2024)10.1002/ajmg.a.63817

N/A

0.269DataRank · unranked

5 citations

Eden Yitna Teferedegn, Dong Li, Kayla Muirhead, Holly Dubbs, Jacqueline Leonard +12 more

Partial suppression of BCAA catabolism as a potential therapy for BCKDK deficiency

Molecular Genetics and Metabolism Reports(2024)10.1016/j.ymgmr.2024.101091

N/A

0.241DataRank · unranked

4 citations

Amanda Kuhs, Ryan Pluck, Emily L. Durham, Michael Noji, Nathan Philip +3 more

Base editing strategies for in vivo correction of two highly recurrent phenylketonuria variants

Molecular Therapy — Nucleic Acids(2025)10.1016/j.omtn.2025.102770

N/A

0.208DataRank · unranked

3 citations

Ishaan Jindal, Thomas R. Campion, Delaney Rutherford, Yongseok Han, Walsh Quigley +6 more

Improved specificity and efficiency of in vivo adenine base editing therapies with hybrid guide RNAs

bioRxiv (Cold Spring Harbor Laboratory)(2024)10.1101/2024.04.22.590531

N/A

0.208DataRank · unranked

3 citations

Lauren C. Testa, Dominique L. Brooks, Aidan Quigley, Hooda Said, Garima Dwivedi +12 more

Pantethine ameliorates dilated cardiomyopathy features in PPCS deficiency disorder in patients and cell line models

Communications Medicine(2025)10.1038/s43856-025-01017-z

N/A

0.104DataRank · unranked

1 citations

Tatjana Dorn, Barbara Gnutti, Yair Anikster, Sarah Kuebler, Rebecca C. Ahrens‐Nicklas +24 more

Improved specificity and efficiency of in vivo adenine base editing therapies with hybrid guide RNAs

Nature Biomedical Engineering(2025)10.1038/s41551-025-01545-y

N/A

0DataRank · unranked

9 citations

Lauren Testa, Aidan Quigley, Dominique L. Brooks, Sarah Grandinette, Hooda Said +14 more

Truncating Variants in RREB1 Cause a Novel RASopathy Syndrome of Congenital Heart Disease, Genitourinary Malformations, and Developmental Delay

American Journal of Medical Genetics Part A(2025)10.1002/ajmg.a.64119

N/A

0DataRank · unranked

3 citations

Caoimhe McKenna, Karen Stals, Antonio Vitobello, Mathilde Renaud, Claudine Rieubland +12 more

CLN3 disease disrupts very early postnatal hippocampal maturation

Scientific Reports(2025)10.1038/s41598-025-02010-1

N/A

0DataRank · unranked

3 citations

Devin M Burris, Sangeetha Bhuyan, Tegan Thurston, Anna M. Oschmann, Connor S.R. Jankowski +4 more

Bi-allelic variants in BCAT1 impair mitochondrial function and are associated with a candidate neurometabolic disorder

Human Genetics and Genomics Advances(2025)10.1016/j.xhgg.2025.100525

N/A

0DataRank · unranked

1 citations

Giulia S. Porcari, Lívia Sertori Finoti, Leonardo Ramos-Rodriguez, Devin M Burris, Justin A. McDonough +15 more

Effective gene therapy for metachromatic leukodystrophy achieved with minimal lentiviral genomic integrations

Molecular Therapy — Nucleic Acids(2025)10.1016/j.omtn.2025.102464

N/A

0DataRank · unranked

0 citations

Sunetra Sase, Julia Hacker, Vi Pham, Maxwell Chappell, Laura Breda +17 more

Postnatal Arx transcriptional activity regulates functional properties of PV interneurons

iScience(2020)10.1016/j.isci.2020.101999

N/A

0DataRank · unranked

21 citations

Markus von Deimling, Yuiko Hasegawa, Ana G. Cristancho, Rebecca C. Ahrens‐Nicklas, Stephanie Rogers +4 more

BLOC1S1 variants cause lysosomal and autophagic defects resulting in a hypomyelinating leukodystrophy with epileptic encephalopathy

medRxiv(2025)10.1101/2025.07.17.25331211

N/A

0DataRank · unranked

0 citations

Carlos González, Chad D. Williamson, Guy Helman, Leslie E. Sanderson, Brianna Disanza +34 more

The Importance of Succinylacetone: Tyrosinemia Type I Presenting with Hyperinsulinism and Multiorgan Failure Following Normal Newborn Screening

International Journal of Neonatal Screening(2020)10.3390/ijns6020039

N/A

0DataRank · unranked

8 citations

Hana Alharbi, Katharine Press Callahan, Herodes Guzman, Irma Payan‐Walters, Ligia Smith +4 more

Neuronal genetic rescue normalizes brain network dynamics in a lysosomal storage disorder despite persistent storage accumulation

bioRxiv (Cold Spring Harbor Laboratory)(2021)10.1101/2021.05.03.442437

N/A

0DataRank · unranked

2 citations

Luis Tecedor, Arron F Hall, Owen Kane, Richard J. Chung, S. E. Lysenko +4 more

Contribution of Mendelian Disorders in a Population-Based Pediatric Neurodegeneration Cohort

The Journal of Pediatrics(2022)10.1016/j.jpeds.2022.05.017

N/A

0DataRank · unranked

2 citations

Frank Mentch, Dong Li, Erin E. Will, Rebecca C. Ahrens‐Nicklas, Elizabeth Bhoj +1 more

Rapid and definitive treatment of phenylketonuria in variant-humanized mice with corrective editing

Nature Communications(2023)10.1038/s41467-023-39246-2

N/A

0DataRank · unranked

48 citations

Manuel Carrasco, Ping Qü, William H. Peranteau, Rebecca C. Ahrens‐Nicklas, Kiran Musunuru +3 more

A base editing strategy using mRNA-LNPs for in vivo correction of the most frequent phenylketonuria variant

Human Genetics and Genomics Advances(2023)10.1016/j.xhgg.2023.100253

N/A

0DataRank · unranked

24 citations

Madelynn N. Whittaker, Hooda Said, Garima Dwivedi, Ping Qü, Kiran Musunuru +4 more

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

Molecular Genetics and Metabolism(2023)10.1016/j.ymgme.2023.108116

N/A

0DataRank · unranked

7 citations

Lívia Sertori Finoti, Margaret M. Cassidy, Jean Ann Maguire, Alyssa Gagne, Elisa A. Waxman +10 more

Characterizing asparagine synthetase deficiency variants in lymphoblastoid cell lines

JIMD Reports(2023)10.1002/jmd2.12356

N/A

0DataRank · unranked

10 citations

Mario C. Chang, Rebecca C. Ahrens‐Nicklas, Shagun Kaur, Arianna K. Stefanatos, Elizabeth E. Dudenhausen +3 more

High density SNP array and reanalysis of genome sequencing uncovers CNVs associated with neurodevelopmental disorders in KOLF2.1J iPSCs

bioRxiv (Cold Spring Harbor Laboratory)(2023)10.1101/2023.06.26.546614

N/A

0DataRank · unranked

4 citations

Jonathan E. Perdomo, Munir E. Khan, Brianna Disanza, Gregory G. Cajka, Sunyimeng Lei +12 more

Hematopoietic stem cell gene therapy improves outcomes in a clinically relevant mouse model of multiple sulfatase deficiency

Molecular Therapy(2024)10.1016/j.ymthe.2024.08.015

N/A

0DataRank · unranked

3 citations

Lucas Tricoli, Xinying Hong, Parith Wongkittichote, Carlo Castruccio Castracani, Amaliris Guerra +11 more

Hematopoietic stem cell gene therapy improves outcomes in a clinically relevant mouse model of Multiple Sulfatase Deficiency

bioRxiv (Cold Spring Harbor Laboratory)(2024)10.1101/2024.03.08.584099

N/A

0DataRank · unranked

0 citations

Lucas Tricoli, Xinying Hong, Parith Wongkittichote, Carlo Castruccio Castracani, Amaliris Guerra +11 more

Bone marrow transplantation increases sulfatase activity in somatic tissues in a multiple sulfatase deficiency mouse model

Communications Medicine(2024)10.1038/s43856-024-00648-y

N/A

0DataRank · unranked

0 citations

Vi Pham, Somdatta Ray, Pierre-Alexandre Piec, Jennifer D. Ryan, Timothy Billings +6 more

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

New England Journal of Medicine(2025)10.1056/nejmoa2504747

N/A

0DataRank · unranked

294 citations

Sarah Grandinette, Xiao Wang, Taylor R. Hudson, Kevin Briseno, Anne Marie Berry +40 more