Author

Antonio Hedrera-Fernández

Hospital Universitario Central de AsturiasORCID 0000-0002-4395-8564Unclaimed 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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Organism:human· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Assay:whole-exome sequencing· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Alasdair P. J. ParkeriD· 1 shared Alba Sanchis‐JuaniD· 1 shared Amy McTagueiD· 1 shared Camila Armirola-RicaurteiD· 1 shared Christopher Geoffrey WoodsiD· 1 shared Christopher J. PenkettiD· 1 shared Courtney E. FrenchiD· 1 shared Detelina GrozevaiD· 1 shared

Activity by Year

2023-2023 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Alasdair P. J. ParkerORCID

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Author profile →

1 paper

Recent·Most cited

Genome Sequencing and Comprehensive Rare Variant Analysis of 465 Families with Neurodevelopmental Disorders

Alba Sanchis‐Juan, Karyn Mégy, Jonathan C. Stephens, Camila Armirola-Ricaurte, Eleanor F. Dewhurst, Kay Yi Low, Courtney E. French, Detelina Grozeva, Kathleen E. Stirrups, Marie Erwood, Amy McTague, Christopher J. Penkett, Olga Shamardina, Salih Tuna, Louise C. Daugherty, , Keren Carss

This study uses genome sequencing to identify causal variants in families with neurodevelopmental disorders, finding 36% of affected individuals have causal variants and 26% have variants of uncertain significance.

The American Journal of Human Genetics · Aug 1, 2023Peer-reviewedGenetic & Genomic Medicine