Author

Patrick Devine

University of California, San Francisco

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

Biology Disciplines

Click to filter author papers

Genetic & Genomic Medicine· 2 Genomics· 1

Signature Assays, Organisms & Methods

Click to filter · or open tag

Research Focus:differential expression· 3 Organism:human· 3 Approach:statistical model· 3 Assay:DNA methylation· 2 Assay:ATAC-seq· 1 Assay:bulk RNA-seq· 1 Research Focus:database / resource· 1 Approach:experimental assay· 1

Frequent Co-Authors

Anne Michele SlavotinekiD· 2 shared Jessica Van ZiffleiD· 2 shared Joseph T.C. ShiehiD· 2 shared Alba Sanchis‐JuaniD· 1 shared Alex J. Fay· 1 shared Alexandrea F. Wadley· 1 shared Allison R. CheneyiD· 1 shared Alyssa Gates· 1 shared

Activity by Year

2018-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 33 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

Anne Michele SlavotinekORCID

Mutual co-authors in cluster

Author profile →

3 papers

Recent·Most cited

A novel splice site variant in DEGS1 leads to aberrant splicing and loss of DEGS1 enzyme activity, a VUS resolved

Holly C. Beale, Victor Tse, J.Y. Lee, Jon Akutagawa, Yusuph Mavura, Brandon Saint-John, Allison R. Cheney, Dennis Mulligan, Guillermo Chacaltana, Martin E Gutierrez, Jessica Tenney, Joseph T.C. Shieh, Pierre‐Marie Martin, Tiffany Yip, Uğur Hodoğlugil, , Anne Michele Slavotinek

The paper identifies a pathogenic splice site variant in DEGS1 causing aberrant splicing and loss of enzyme activity in individuals with HLD18.

Human Genetics · May 6, 2026Peer-reviewedGenetic & Genomic Medicine

De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy

Chiara Klöckner, Heinrich Sticht, Pia Zacher, Bernt Popp, Holly E. Babcock, Dewi P. Bakker, Katy E Barwick, Michaela Veronika Bonfert, Carsten G. Bönnemann, Eva H. Brilstra, Wendy K. Chung, Angus John Clarke, Patrick Devine, Sandra C. Donkervoort, Jamie L. Fraser, , Konrad Platzer

This study describes 20 individuals with de novo SNAP25 variants, identifying intellectual disability and early-onset epilepsy as core symptoms of SNAP25-DEE, with overlaps with other SNARE complex genes.

Genetics in Medicine · Dec 9, 2020Peer-reviewedGenetic & Genomic Medicine

Heart enhancers with deeply conserved regulatory activity are established early in development

Xuefei Yuan, Mengyi Song, Patrick Devine, Benoit G. Bruneau, Ian C. Scott, Michael D. Wilson

The paper identifies conserved enhancers active early in zebrafish heart development that recapitulate human expression patterns, suggesting ancient regulatory mechanisms.

Nature Communications · Nov 20, 2018Peer-reviewedGenomics