Author

Barbara R. Pober

Massachusetts General HospitalORCID 0000-0003-4210-7634Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 2

Signature Assays, Organisms & Methods

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Research Focus:gene regulatory network inference· 2 Organism:human· 2 Approach:statistical model· 2 Assay:whole-genome sequencing· 2 Approach:experimental assay· 1 Organism:mouse· 1 Research Focus:variant calling· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Amy E. RobertsiD· 1 shared Andrés HernándeziD· 1 shared Anne‐Sophie Jourdain· 1 shared Beth A. KozeliD· 1 shared Boris KereniD· 1 shared Brigitte Gilbert‐DussardieriD· 1 shared C.A. Morris· 1 shared Camille AlbaiD· 1 shared

Activity by Year

2022-2023 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 20 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Amy E. RobertsORCID

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2 papers

Recent·Most cited

Genetic & Genomic MedicineThe American Journal of Human GeneticsPeer-reviewedSep 25, 2023

Missense variants affecting the actin-binding domains of PLS3 cause X-linked congenital diaphragmatic hernia and body wall defects

Florence Petit, Mauro Longoni, Julie M. Wells…·Frances A. High

The paper identifies missense variants in PLS3 causing X-linked congenital diaphragmatic hernia and body wall defects through genetic analysis and functional studies.

11 citations

humanmouse

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Genetic & Genomic MedicinemedRxivPreprintSep 21, 2022

Pathway analysis identifies novel non-synonymous variants contributing to extreme vascular outcomes in Williams-Beuren syndrome

D. Liu, Charles John Billington, N. Raja…·Beth A. Kozel

The paper identifies novel non-synonymous variants associated with extreme vascular outcomes in Williams-Beuren syndrome through whole-genome sequencing and pathway analysis.

DOI 10.1101/2022.09.21.22280107

humanwhole-genome sequencing

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