Author

Mark Sanderson

Wellcome Sanger Institute

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

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Genetic & Genomic Medicine· 2 Genetics· 1

Signature Assays, Organisms & Methods

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Organism:human· 3 Approach:statistical model· 3 Research Focus:GWAS / association mapping· 2 Assay:whole-exome sequencing· 2 Assay:GWAS summary statistics· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

Gabriela Sánchez-AndradeiD· 3 shared Matthew E. HurlesiD· 3 shared Sebastian S. GeretyiD· 3 shared Biogen Biobank Team· 2 shared Chia‐Yen CheniD· 2 shared Ellen A. TsaiiD· 2 shared Heiko RunziD· 2 shared Aarno V. PalotieiD· 1 shared

Activity by Year

2018-2023 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 43 mutual co-author links

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3 shared papersGenetic & Genomic Medicine

Gabriela Sánchez-AndradeORCID

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Author profile →

3 papers

Recent·Most cited

Rare genetic variants impact muscle strength

Yunfeng Huang, Dóra Bodnár, Chia‐Yen Chen, Gabriela Sánchez-Andrade, Mark Sanderson, Biogen Biobank Team, Christopher D. Whelan, Paola G. Bronson, David Sexton, Sally John, Eric Marshall, Mehool Patel, Saranya Duraisamy, Timothy Swan, Denis A. Baird, , 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.

Nature Communications · Jun 10, 2023Peer-reviewedGenetic & Genomic Medicine

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

Chia‐Yen Chen, Ruoyu Tian, Tian Ge, Max Lam, Gabriela Sánchez-Andrade, Tarjinder Singh, Lea Urpa, Jimmy Z. Liu, Mark Sanderson, Christine Rowley, Holly Ironfield, Terry Fang, Biogen Biobank Team, The SUPER-Finland study, Aija Kyttälä, , 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.

Nature Genetics · May 25, 2023Peer-reviewedGenetic & Genomic Medicine

Quantifying the contribution of recessive coding variation to developmental disorders

Hilary C. Martin, Wendy D. Jones, Rebecca E. McIntyre, Gabriela Sánchez-Andrade, Mark Sanderson, James D. Stephenson, Carla P. Jones, Juliet Handsaker, Giuseppe Gallone, Michaela Bianka Bruntraeger, Jeremy F. McRae, Elena Prigmore, Patrick Short, Mari Niemi, Joanna Kaplanis, , 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.

Science · Nov 8, 2018Peer-reviewedGenetics