Author

Brian Kirby

St. Vincent's University HospitalORCID 0000-0001-7596-892XUnclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

Click to filter author papers

Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

Click to filter · or open tag

Research Focus:differential expression· 1 Organism:human· 1 Approach:statistical model· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Anna MalaraiD· 1 shared Benjamin Harris KaffenbergeriD· 1 shared Cheryl M. SweeneyiD· 1 shared David J. Morales-HeiliD· 1 shared Elisha D. O. RobersoniD· 1 shared Frank Brown· 1 shared Jessica A. KaffenbergeriD· 1 shared Li Hua CaoiD· 1 shared

Activity by Year

2023-2023 · 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

Anna MalaraORCID

Mutual co-authors in cluster

Author profile →

1 paper

Recent·Most cited

Genetic & Genomic MedicineHuman Genetics and Genomics AdvancesPeer-reviewedMar 13, 2023

Rare missense variants in the SH3 domain of PSTPIP1 are associated with hidradenitis suppurativa

David J. Morales-Heil, Li Hua Cao, Cheryl M. Sweeney…·Elisha D. O. Roberson

The paper identifies rare missense variants in the SH3 domain of PSTPIP1 as significantly enriched in hidradenitis suppurativa patients, suggesting shared genetic risk with PSTPIP1-related syndromes.

6 citations

humanwhole-exome sequencing