Author

Sofia Temudo Duarte

Unidade Local de Saúde de São JoséORCID 0000-0002-6918-9636Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

Click to filter author papers

Genetic & Genomic Medicine· 1 Genetics· 1

Signature Assays, Organisms & Methods

Click to filter · or open tag

Organism:human· 2 Approach:statistical model· 2 Research Focus:variant calling· 2 Assay:whole-genome sequencing· 2 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Alba Sanchis‐JuaniD· 2 shared Amy McTagueiD· 2 shared Frances Lucy RaymondiD· 2 shared Keren CarssiD· 2 shared Manju A. KurianiD· 2 shared Alasdair P. J. ParkeriD· 1 shared Antonio Hedrera-FernándeziD· 1 shared Camila Armirola-RicaurteiD· 1 shared

Activity by Year

2020-2023 · 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

2 shared papersGenetic & Genomic Medicine

Alba Sanchis‐JuanORCID

Mutual co-authors in cluster

Author profile →

2 papers

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

Structural analysis of pathogenic missense mutations in GABRA2 and identification of a novel de novo variant in the desensitization gate

Alba Sanchis‐Juan, Marcia Anahí Hasenahuer, James Alexander Baker, Amy McTague, Katy E Barwick, Manju A. Kurian, Sofia Temudo Duarte, NIHR BioResource, Keren Carss, Janet M. Thornton, Frances Lucy Raymond

The paper identifies a novel de novo missense variant in GABRA2 associated with EIEE and analyzes structural impacts of seven variants across Cys-loop receptors.

Molecular Genetics & Genomic Medicine · Apr 29, 2020Peer-reviewedGenetics