Author

Lisa M. Dellefave‐Castillo

Northwestern UniversityORCID 0000-0001-6044-0559Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

Click to filter author papers

Bioinformatics· 1 Genetic & Genomic Medicine· 1 Genomics· 1

Signature Assays, Organisms & Methods

Click to filter · or open tag

Research Focus:database / resource· 2 Organism:human· 2 Approach:statistical model· 2 Assay:CUT&Tag· 1 Research Focus:differential expression· 1 Approach:experimental assay· 1 Research Focus:gene regulatory network inference· 1 Research Focus:software / tool· 1

Frequent Co-Authors

Elizabeth M. McNallyiD· 2 shared Megan J. PuckelwartziD· 2 shared Adithya BalasubramanianiD· 1 shared Alex Fedotov· 1 shared Alfred L. GeorgeiD· 1 shared Ali G. GharaviiD· 1 shared ALLAN S. GORDONiD· 1 shared Andrea Foster· 1 shared

Activity by Year

2020-2024 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 24 mutual co-author links

Click any collaborator node to inspect or filter shared papers

Focal author (center)Selected co-authorORCID co-authorUnlinked name

Curved chords = mutual co-authorship

2 shared papersGenetic & Genomic Medicine

Elizabeth M. McNallyORCID

Mutual co-authors in cluster

Author profile →

3 papers

Recent·Most cited

Genetic & Genomic MedicineGenome MedicinePeer-reviewedJan 16, 2024

The impact of damaging epilepsy and cardiac genetic variant burden in sudden death in the young

Megan J. Puckelwartz, Lorenzo L. Pesce, Edgar Javier Hernandez…·Elizabeth M. McNally

This study identifies genetic variants in epilepsy, cardiomyopathy, and arrhythmia genes in a sudden death in the young cohort, finding enrichment of damaging variants and a correlation with younger age at death.

16 citationstop 4%

humanwhole-genome sequencing

𝕏 PostBluesky

BioinformaticsGenetics in MedicinePeer-reviewedJul 13, 2021

Neptune: An environment for the delivery of genomic medicine

Eric Venner, Victoria Yi, David R. Murdock…·Andrea L. Hartzler

Neptune delivers structured genomic data to EHR systems through customizable reports and variant reanalysis, supporting over 15,000 clinical reports.

7 citations

experimental assaydatabase / resource

𝕏 PostBluesky

GenomicsbioRxivPreprintMar 17, 2020

Enhancer and Promoter Usage in the Normal and Failed Human Heart

Anthony M. Gacita, Lisa M. Dellefave‐Castillo, Patrick Page…·Elizabeth M. McNally

This study uses CAGE-seq to analyze promoter and enhancer usage in healthy and failed human hearts, identifying changes in gene regulation associated with heart failure.

2 citations

humanCUT&Tag

𝕏 PostBluesky