Author

Alex D. Shaw

Institució Catalana de Recerca i Estudis AvançatsORCID 0000-0001-7548-1329Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetics· 1 Genomics· 1

Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:statistical model· 2 Approach:benchmark study· 1 Research Focus:differential expression· 1 Research Focus:gene regulatory network inference· 1 Assay:GWAS summary statistics· 1 Research Focus:variant effect prediction· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Claudio Toma AiD· 2 shared Janice M. FullertoniD· 2 shared Amaia Hervas GiD· 1 shared Anna Heath· 1 shared Bàrbara Torrico· 1 shared Bru CormandiD· 1 shared Kerrie D. PierceiD· 1 shared Mónica Bayés· 1 shared

Activity by Year

2018-2019 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 33 mutual co-author links

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2 shared papersGenomics

Claudio Toma AORCID

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2 papers

Recent·Most cited

GenomicsJournal of Psychiatry and NeurosciencePeer-reviewedAug 29, 2019

Truncating Variant Burden in High Functioning Autism and Pleiotropic Effects of LRP1 Across Psychiatric Phenotypes

Bàrbara Torrico, Alex D. Shaw, Roberto Mosca…·Claudio Toma A

The paper investigates the role of inherited and de novo truncating mutations in high functioning autism and identifies pleiotropic effects of LRP1 variants across psychiatric phenotypes.

34 citations

humanwhole-exome sequencing

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GeneticsPLoS GeneticsPeer-reviewedDec 26, 2018

Comprehensive cross-disorder analyses of CNTNAP2 suggest it is unlikely to be a primary risk gene for psychiatric disorders.

Claudio Toma A, Kerrie D. Pierce, Alex D. Shaw…·Janice M. Fullerton

This paper analyzes CNTNAP2's role in psychiatric disorders using genomic data and finds it unlikely to be a primary risk gene.

49 citations

humanGWAS summary statistics

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