Author

Hannah T. M. Contreras

Massachusetts General HospitalORCID 0000-0002-9429-3750Unclaimed 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

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

Frequent Co-Authors

Andrés HernándeziD· 1 shared Anne‐Sophie Jourdain· 1 shared Barbara R. PoberiD· 1 shared Boris KereniD· 1 shared Brigitte Gilbert‐DussardieriD· 1 shared Carol J. BultiD· 1 shared Daniel G. CalameiD· 1 shared Daryl A. ScottiD· 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

Andrés HernándezORCID

Mutual co-authors in cluster

Author profile →

1 paper

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