Véronique Bolduc

Also affiliated with National Institute of Neurological Disorders and Stroke

Biochemistry, Genetics and Molecular BiologyMedicine

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 9 papers. Top paper: “Pathogenic Variants in the Myosin Chaperone UNC-45B Cause Progressive Myopathy with Eccentric Cores”.

Pathogenic Variants in the Myosin Chaperone UNC-45B Cause Progressive Myopathy with Eccentric Cores

The American Journal of Human Genetics(2020)10.1016/j.ajhg.2020.11.002

N/A

0.578DataRank · unranked

46 citations

Carl Elias Kutzner, Ying Hu, Xavière Lornage, John Rendu, Tanya Stojkovic +42 more

Exon-Skipping Oligonucleotides Restore Functional Collagen VI by Correcting a Common COL6A1 Mutation in Ullrich CMD

Molecular Therapy — Nucleic Acids(2020)10.1016/j.omtn.2020.05.029

N/A

0.546DataRank · unranked

37 citations

Véronique Bolduc, Pierpaolo Ala, Mark Turmaine, Carsten G. Bönnemann, Francesco Muntoni +2 more

A humanized knock-in Col6a1 mouse recapitulates a deep-intronic splice-activating variant

bioRxiv (Cold Spring Harbor Laboratory)(2024)10.1101/2024.03.21.581572

N/A

0.104DataRank · unranked

1 citations

Fady Guirguis, Berit Lubben, Lindsey Trank, Sarah Silverstein, Astrid Brull +5 more

Consistent Delivery of Adeno-Associated Virus via Lateral Tail-Vein Injection in Adult Mice

Journal of Visualized Experiments(2024)10.3791/66934

N/A

0DataRank · unranked

1 citations

Véronique Bolduc, Matthew J Slarve, Haiyan Zhou, Francesco Muntoni, C. Bönnemann +1 more

The recurrent deep intronic pseudoexon-inducing variant COL6A1 c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapy

medRxiv(2024)10.1101/2024.03.29.24304673

N/A

0DataRank · unranked

2 citations

Véronique Bolduc, Fady Guirguis, Sandra Donkervoort, Ying Hu, Rotem Orbach +64 more

Pathogenic variants in COL6A3 cause Ullrich-like congenital muscular dystrophy in young Labrador Retriever dogs

Neuromuscular Disorders(2020)10.1016/j.nmd.2020.03.005

N/A

0DataRank · unranked

15 citations

Katie M. Minor, Ying Hu, Rupleen Kaur, Steven G. Friedenberg, Samantha L. Van Buren +7 more

Allele-specific CRISPR/Cas9 editing inactivates a single nucleotide variant associated with collagen VI muscular dystrophy

bioRxiv (Cold Spring Harbor Laboratory)(2024)10.1101/2024.03.22.586265

N/A

0DataRank · unranked

1 citations

Katherine Sizov, Astrid Brull, Eric Esposito, Grace S. Chen, Prech Uapinyoying +4 more

Optimized allele-specific silencing of the dominant-negative COL6A1 G293R substitution causing collagen VI-related dystrophy

Molecular Therapy — Nucleic Acids(2024)10.1016/j.omtn.2024.102178

N/A

0DataRank · unranked

15 citations

Apurva Sarathy, Véronique Bolduc, Grace S. Chen, Riley M. McCarty, Carsten G. Bönnemann +1 more

Allele-specific CRISPR-Cas9 editing inactivates a single nucleotide variant associated with collagen VI muscular dystrophy

Molecular Therapy — Nucleic Acids(2024)10.1016/j.omtn.2024.102269

N/A

0DataRank · unranked

9 citations

Katherine Sizov, Astrid Brull, Eric Esposito, Grace S. Chen, Prech Uapinyoying +4 more