Author

John Phillips

Vanderbilt University Medical Center

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· 1 Genetics· 1

Signature Assays, Organisms & Methods

Click to filter · or open tag

Organism:human· 2 Approach:statistical model· 2 Assay:ATAC-seq· 1 Research Focus:benchmarking· 1 Assay:bulk RNA-seq· 1 Research Focus:differential expression· 1 Research Focus:GWAS / association mapping· 1 Assay:protein structure· 1

Frequent Co-Authors

Alan S. MaiD· 1 shared Alexandra C Martin-GearyiD· 1 shared Alicia LjungdahliD· 1 shared Alison G. ComptoniD· 1 shared Alma Kuechler· 1 shared Angelika Rieß· 1 shared Anjali Gupta HinchiD· 1 shared Anna K. Le FevreiD· 1 shared

Activity by Year

2018-2024 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 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

1 shared paperGenetic & Genomic Medicine

Alan S. MaORCID

Mutual co-authors in cluster

Author profile →

2 papers

Recent·Most cited

De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders

Yuyang Chen, Ruebena Dawes, Hyung Chul Kim, Alicia Ljungdahl, Sarah L. Stenton, Susan Walker, Jenny Lord, Gabrielle Lemire, Alexandra C Martin-Geary, Vijay S Ganesh, Jialan Ma, Jamie M. Ellingford, Erwan Delage, Elston N. D’Souza, Shan Dong, , David H. Viskochil

Mostly de novo variants in an 18 bp constrained region of U4 snRNA gene RNU4-2 cause a syndromic neurodevelopmental disorder, estimated to explain 0.41% of cases.

Nature · Jul 11, 2024Peer-reviewedGenetic & Genomic Medicine✦ In-depth digest

Comprehensive Analysis of Constraint on the Spatial Distribution of Missense Variants in Human Protein Structures

R. Michael Sivley, Jonathan Kropski, Jonathan Sheehan, Joy Cogan, Xiaoyi Dou, Timothy S. Blackwell, John Phillips, Jens Meiler, William S. Bush, John A. Capra

The paper analyzes the spatial distribution of missense variants in human protein structures to classify variants of unknown significance, finding disease-causing variants cluster more than benign ones.

The American Journal of Human Genetics · Feb 15, 2018Peer-reviewedGenetics