Author

Loren D.M. Peña

Duke UniversityORCID 0000-0001-8044-512XUnclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1 Genetics· 1

Signature Assays, Organisms & Methods

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Organism:human· 2 Research Focus:differential expression· 1 Organism:Drosophila· 1 Approach:experimental assay· 1 Research Focus:gene regulatory network inference· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

Agnes H. CheniD· 1 shared Alan H. BeggsiD· 1 shared Alexandra AfenjariD· 1 shared Ani Dillon· 1 shared Anna Bican· 1 shared Annelise Yoo Mah-SomiD· 1 shared Ascia EskiniD· 1 shared Ashok BalasubramanyamiD· 1 shared

Activity by Year

2018-2023 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 29 mutual co-author links

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1 shared paperGenetics

Agnes H. ChenORCID

Mutual co-authors in cluster

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2 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintJun 19, 2023

A Novel Autosomal Dominant Childhood-Onset Disorder Associated with Pathogenic Variants in VCP

Annelise Yoo Mah-Som, Jil Daw, Diana Huynh…·Marwan S. Shinawi

The paper identifies novel VCP variants causing a childhood-onset neurodevelopmental disorder through exome sequencing and functional analysis.

DOI 10.1101/2023.06.19.23291232

humanwhole-exome sequencing

𝕏 PostBluesky

GeneticsThe American Journal of Human GeneticsPeer-reviewedJul 26, 2018

Loss-of-function in IRF2BPL is associated with neurological phenotypes

Paul C. Marcogliese, Vandana Shashi, Rebecca C. Spillmann…·Noah D. Friedman

This study identifies damaging variants in IRF2BPL associated with neurological phenotypes in humans and shows functional conservation in fruit flies.

110 citationstop 2%

humanDrosophila

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