Author

Debora Giselle Braslavsky

Consejo Nacional de Investigaciones Científicas y TécnicasORCID 0000-0002-4501-7610Unclaimed 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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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 Ana Claudia KeselmaniD· 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

Activity by Year

2021-2021 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Alexander A.L. JorgeORCID

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1 paper

Recent·Most cited

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

Péter Gergics, Cathy Smith, Hironori Bando, Alexander A.L. Jorge, Denise Rockstroh, Sebastian Alexis Vishnopolska, Frédéric Castinetti, Mariam Maksutova, Luciani R. S. Carvalho, Julia Hoppmann, Julian Martinez-Mayer, F. Albarel, Debora Giselle Braslavsky, Ana Claudia Keselman, Ignacio Bergadá, , Sally Ann Camper

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

The American Journal of Human Genetics · Jul 15, 2021Peer-reviewedGenetic & Genomic Medicine