Author

Douglas R. Smith

Courtagen Life Sciences (United States)ORCID 0000-0002-0401-7382Unclaimed ORCID profile · follow to get notified of new preprints

Additional preprints under this name without ORCID

Douglas R. Smith1 paper

Biology Disciplines

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Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:statistical model· 2 Research Focus:database / resource· 1 Research Focus:differential expression· 1 Assay:DNA methylation· 1 Research Focus:gene regulatory network inference· 1 Research Focus:variant calling· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

Christine M. Stanley· 2 shared Claudia BianchiniiD· 1 shared Dennis LaliD· 1 shared Florian BattkeiD· 1 shared Heidi L. RehmiD· 1 shared Henrike HeyneiD· 1 shared Holger LercheiD· 1 shared Ingo HelbigiD· 1 shared

Activity by Year

2017-2019 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 37 mutual co-author links

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2 shared papersGenetics

Christine M. Stanley

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2 papers

Recent·Most cited

Targeted gene sequencing in 6994 individuals with neurodevelopmental disorder with epilepsy

Henrike Heyne, Mykyta Artomov, Florian Battke, Claudia Bianchini, Douglas R. Smith, Nora Liebmann, Vasisht R. Tadigotla, Christine M. Stanley, Dennis Lal, Heidi L. Rehm, Holger Lerche, Mark J. Daly, Ingo Helbig, Saskia Biskup, Yvonne G. Weber, Johannes R. Lemke

The paper analyzes genetic variants in 6,994 individuals with neurodevelopmental disorder with epilepsy to assess diagnostic yield and identify ultra-rare variants in associated genes.

Genetics in Medicine · May 6, 2019Peer-reviewedGenetics

Rare genetic variants in the endocannabinoid system genes CNR1 and DAGLA are associated with neurological phenotypes in humans

Douglas R. Smith, Christine M. Stanley, Theodore Foss, Richard G. Boles, Kevin Judd McKernan

The paper identifies rare variants in CNR1 and DAGLA genes linked to neurological phenotypes in humans, with CNR1 variants associated with pain, sleep, and memory issues, and DAGLA variants linked to seizures and developmental disorders.

PLoS ONE · Nov 16, 2017Peer-reviewedGenetics