Author

Justin C. Alvey

University of Utah

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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Genetics· 2 Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Organism:human· 3 Approach:statistical model· 3 Research Focus:database / resource· 1 Research Focus:differential expression· 1 Research Focus:gene regulatory network inference· 1 Research Focus:software / tool· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Alan H. BeggsiD· 3 shared Ashley AndrewsiD· 3 shared Ashok BalasubramanyamiD· 3 shared Carlos A. BacinoiD· 3 shared David R. AdamsiD· 3 shared Deborah Barbouth· 3 shared Devon E. BonneriD· 3 shared Dustin BaldridgeiD· 3 shared

Activity by Year

2020-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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3 shared papersGenetics

Alan H. BeggsORCID

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3 papers

Recent·Most cited

GeneticsNature CommunicationsPeer-reviewedAug 6, 2025

Joint, multifaceted genomic analysis enables diagnosis of diverse, ultra-rare monogenic presentations

Shilpa N. Kobren, Mikhail A. Moldovan, Rebecca Reimers…·Esteban C. Dell’Angelica

The paper presents a joint genomic analysis of UDN patients using whole genome sequencing and new statistical methods to prioritize disease genes, revealing new disease associations and releasing a software tool for cohort analysis.

8 citationstop 4%

humanwhole-genome sequencing

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Genetic & Genomic MedicineGenetics in MedicinePeer-reviewedApr 8, 2021

Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain

Felix Marbach, Georgi Stoyanov, Florian Erger…·Elizabeth L. Fieg

The paper identifies de novo PRKAR1B variants in six individuals with neurodevelopmental disorder, autism, apraxia, and reduced pain sensitivity.

28 citations

humanstatistical model

𝕏 PostBluesky

GeneticsThe American Journal of Human GeneticsPeer-reviewedMar 19, 2020

De novo EIF2AK1 and EIF2AK2 variants are associated with developmental delay, leukoencephalopathy, and neurologic decompensation

Dongxue Mao, Chloe M. Reuter, Maura R. Z. Ruzhnikov…·Christine M. Eng

The paper identifies de novo variants in EIF2AK1 and EIF2AK2 associated with neurodevelopmental disorders and leukoencephalopathy, showing similar pathogenic mechanisms to CACH/VWM.

68 citationstop 4%

humanstatistical model

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