Author

Gabriela Sánchez-Andrade

Wellcome Sanger InstituteORCID 0000-0003-4868-2955Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 2 Genetics· 2

Signature Assays, Organisms & Methods

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Organism:human· 4 Approach:statistical model· 3 Research Focus:GWAS / association mapping· 2 Assay:whole-exome sequencing· 2 Assay:bulk RNA-seq· 1 Research Focus:cell type annotation· 1 Research Focus:differential expression· 1 Approach:experimental assay· 1

Frequent Co-Authors

Matthew E. HurlesiD· 4 shared Sebastian S. GeretyiD· 4 shared Mark Sanderson· 3 shared Biogen Biobank Team· 2 shared Chia‐Yen CheniD· 2 shared Christine RowleyiD· 2 shared Ellen A. TsaiiD· 2 shared Heiko RunziD· 2 shared

Activity by Year

2018-2023 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 41 mutual co-author links

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4 shared papersGenetic & Genomic Medicine

Matthew E. HurlesORCID

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4 papers

Recent·Most cited

Genetic & Genomic MedicineNature CommunicationsPeer-reviewedJun 10, 2023

Rare genetic variants impact muscle strength

Yunfeng Huang, Dóra Bodnár, Chia‐Yen Chen…·Heiko Runz

This study identifies six genes associated with hand grip strength using rare protein-coding variants in 340,319 individuals and shows additive effects with common variants.

26 citationstop 4%

humanGWAS summary statistics

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Genetic & Genomic MedicineNature GeneticsPeer-reviewedMay 25, 2023

The impact of rare protein coding genetic variation on adult cognitive function

Chia‐Yen Chen, Ruoyu Tian, Tian Ge…·Heiko Runz

This study identifies eight genes associated with adult cognitive function through rare coding variants and shows how KDM5B dosage affects cognitive traits in mice and humans.

71 citationstop 1%

humanwhole-exome sequencing

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GeneticsbioRxivPreprintJul 15, 2022

Mouse and cellular models of KPTN-related disorder implicate mTOR signalling in cognitive and progressive overgrowth phenotypes

Maria O. Levitin, Lettie E. Rawlins, Gabriela Sánchez-Andrade…·Sebastian S. Gerety

The paper investigates KPTN-related disorder using mouse and human stem cell models, identifying mTOR pathway dysregulation as a key mechanism underlying cognitive and overgrowth phenotypes.

1 citation

mousehuman

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GeneticsSciencePeer-reviewedNov 8, 2018

Quantifying the contribution of recessive coding variation to developmental disorders

Hilary C. Martin, Wendy D. Jones, Rebecca E. McIntyre…·on behalf of the Deciphering Developmental Disorders Study

The paper estimates the contribution of recessive coding variants to developmental disorders using exome data from 7,448 families, finding low prevalence in European ancestry but higher in Pakistani ancestry.

200 citationstop 1%

humanwhole-exome sequencing

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