Author

Joie Davis

National Institutes of Health

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· 1 Genetics· 1 Genomics· 1

Signature Assays, Organisms & Methods

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Organism:human· 3 Approach:statistical model· 3 Research Focus:clustering· 1 Research Focus:database / resource· 1 Research Focus:differential expression· 1 Research Focus:gene regulatory network inference· 1 Research Focus:software / tool· 1 Research Focus:variant calling· 1

Frequent Co-Authors

Alan H. BeggsiD· 2 shared Andrew B. CrouseiD· 2 shared Ashley AndrewsiD· 2 shared Ashok BalasubramanyamiD· 2 shared Carlos A. BacinoiD· 2 shared David R. AdamsiD· 2 shared Deborah Barbouth· 2 shared Devon E. BonneriD· 2 shared

Activity by Year

2021-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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2 shared papersGenetics

Alan H. BeggsORCID

Mutual co-authors in cluster

Author profile →

3 papers

Recent·Most cited

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

Shilpa N. Kobren, Mikhail A. Moldovan, Rebecca Reimers, Daniel Traviglia, Xinyun Li, Danielle Barnum, Alexander D. Veit, Rosario I. Corona, George de V. Carvalho Neto, Julian Willett, Michele Berselli, William Ronchetti, Stanley F. Nelson, Julián A. Martínez-Agosto, Richard I. Sherwood, , 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.

Nature Communications · Aug 6, 2025Peer-reviewedGenetics

Genomic Landscape of Patients with Germline RUNX1 Variants and Familial Platelet Disorder with Myeloid Malignancies in a Natural History Study

Kai Yu, Natalie T Deuitch, Matthew Merguerian, Lea Cunningham, Joie Davis, Erica Bresciani, Jamie Lynn Diemer, Elizabeth T. Andrews, Alice Young, Frank X. Donovan, Raman B. Sood, Kathleen Craft, Shawn Chong, Settara C. Chandrasekharappa, James C. Mullikin, Paul Liu

The paper analyzes genomic data from patients with FPDMM to identify germline RUNX1 variants and somatic mutations linked to clonal hematopoiesis and myeloid malignancies.

Blood Advances · Nov 29, 2023Peer-reviewedGenomics

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

Felix Marbach, Georgi Stoyanov, Florian Erger, Constantine A. Stratakis, Nikolaos Settas, Edra London, Jill Anne Rosenfeld, Erin E. Torti, Chad R. Haldeman‐Englert, Evgenia Sklirou, Elena Kessler, Sophia Ceulemans, Stanley F. Nelson, Julián A. Martínez-Agosto, Christina G.S. Palmer, , Elizabeth L. Fieg

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

Genetics in Medicine · Apr 8, 2021Peer-reviewedGenetic & Genomic Medicine