Author

Raquel Fernandez

CVPath Institute

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

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Genetic & Genomic Medicine· 2 Genetics· 1

Signature Assays, Organisms & Methods

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Organism:human· 3 Approach:statistical model· 3 Assay:whole-exome sequencing· 2 Research Focus:benchmarking· 1 Research Focus:differential expression· 1 Research Focus:gene regulatory network inference· 1 Assay:GWAS summary statistics· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Aloke Virmani FinniD· 2 shared Anne CornelisseniD· 2 shared Atsushi SakamotoiD· 2 shared Braxton D. MitchelliD· 2 shared Charles C. HongiD· 2 shared Frank D. KolodgieiD· 2 shared Liang GuoiD· 2 shared Maria E. RomeroiD· 2 shared

Activity by Year

2021-2024 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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2 shared papersGenetics

Aloke Virmani FinnORCID

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3 papers

Recent·Most cited

Assessment of genes involved in lysosomal diseases using the ClinGen Clinical Validity framework

Emily Groopman, Shruthi Mohan, Amber Waddell, Matheus Vernet Machado Bressan Wilke, Raquel Fernandez, Meredith A. Weaver, Hongjie Chen, Hongbin Liu, Deeksha Sarihyan Bali, Heather Baudet, Lorne A. Clarke, Christina Hung, Rong Mao, Filippo Pinto e Vairo, Lemuel Racacho, , Jennifer Goldstein

The paper assesses the clinical validity of 56 genes associated with lysosomal diseases using the ClinGen framework, identifying key themes and challenges in their evaluation.

Molecular Genetics and Metabolism · Nov 1, 2024Peer-reviewedGenetic & Genomic Medicine

Polygenic Risk Score Associates with Atherosclerotic Plaque Characteristics at Autopsy

Anne Cornelissen, Neel V. Gadhoke, Kathleen A. Ryan, Chani J. Hodonsky, Rebecca Mitchell, Nathan A. Bihlmeyer, ThuyVy Duong, Zhifen Chen, Armelle Dikongue, Atsushi Sakamoto, Yu Sato, Rika Kawakami, Masayuki Mori, Kenji Kawai, Raquel Fernandez, , Aloke Virmani Finn

This study shows that a polygenic risk score for coronary artery disease is associated with more severe atherosclerosis features in autopsy samples of sudden death cases.

Arteriosclerosis Thrombosis and Vascular Biology · Nov 2, 2023Peer-reviewedGenetics

Genetics of Unexplained Sudden Cardiac Death in Adult Caucasian and African American Individuals Living in the State of Maryland

Liang Guo, Sho Torii, Raquel Fernandez, Ryan E. Braumann, Daniela T. Fuller, Ka Hyun Paek, Neel V. Gadhoke, Kristin A. Maloney, Kathryn Harris, Christina M. Mayhew, Roya Zarpak, Laura M. Stevens, Brady J. Gaynor, Hiroyuki Jinnouchi, Atsushi Sakamoto, , Aloke Virmani Finn

This study examines the association between pathogenic or likely pathogenic genetic variants in cardiomyopathy and arrhythmia genes and unexplained sudden cardiac death in adults with no gross pathological findings.

JAMA Cardiology · Jun 2, 2021Peer-reviewedGenetic & Genomic Medicine