Author

Roser Maria Pons

National and Kapodistrian University of AthensORCID 0000-0001-6749-1906Unclaimed 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:genome assembly· 1 Organism:human· 1 Approach:statistical model· 1

Frequent Co-Authors

Alba Sanchis‐JuaniD· 1 shared Amélie PitoniD· 1 shared Amy McTagueiD· 1 shared Anne de Saint MartiniD· 1 shared Argirios DinopoulosiD· 1 shared Arthur J. CampbelliD· 1 shared Damien LedereriD· 1 shared David Sternman· 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

Alba Sanchis‐JuanORCID

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1 paper

Recent·Most cited

Genetic & Genomic MedicineGenetics in MedicinePeer-reviewedDec 6, 2021

Structural mapping of GABRB3 variants reveals genotype-phenotype correlation

Katrine M. Johannesen, Sumaiya Iqbal, Milena Guazzi…·Elena Gardella

The paper analyzes GABRB3 variants in a cohort of 71 individuals to identify genotype-phenotype correlations, finding associations between variant locations and specific clinical features.

23 citations

humanstatistical model

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