Author

Anna Malara

St. Vincent's University HospitalORCID 0000-0002-1948-5568Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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

Frequent Co-Authors

Benjamin Harris KaffenbergeriD· 1 shared Brian KirbyiD· 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

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1 shared paperGenetic & Genomic Medicine

Benjamin Harris KaffenbergerORCID

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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