Author

Ana Claudia Keselman

Consejo Nacional de Investigaciones Científicas y TécnicasORCID 0000-0002-5612-0445Unclaimed 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

Assay:DNA methylation· 1 Approach:experimental assay· 1 Organism:human· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

Alexander A.L. JorgeiD· 1 shared Alexandru SaveanuiD· 1 shared Andrew Nahum DauberiD· 1 shared Anne BarlieriD· 1 shared Ayse Bilge OzeliD· 1 shared Berenice Bilharinho MendoncaiD· 1 shared Cathy SmithiD· 1 shared Debora Giselle BraslavskyiD· 1 shared

Activity by Year

2021-2021 · 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

Alexander A.L. JorgeORCID

Mutual co-authors in cluster

Author profile →

1 paper

Recent·Most cited

Genetic & Genomic MedicineThe American Journal of Human GeneticsPeer-reviewedJul 15, 2021

High-throughput splicing assays identify missense and silent splice-disruptive POU1F1 variants underlying pituitary hormone deficiency

Péter Gergics, Cathy Smith, Hironori Bando…·Sally Ann Camper

The paper identifies splice-disruptive POU1F1 variants, including synonymous ones, associated with hypopituitarism using high-throughput splicing assays.

50 citationstop 2%

humanDNA methylation

𝕏 PostBluesky