Author

Christine M. Stanley

Courtagen Life Sciences (United States)

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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Genetics· 2 Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Approach:statistical model· 3 Organism:human· 2 Research Focus:variant calling· 2 Assay:whole-exome sequencing· 2 Assay:whole-genome sequencing· 2 Research Focus:database / resource· 1 Research Focus:differential expression· 1 Assay:DNA methylation· 1

Frequent Co-Authors

Douglas R. SmithiD· 2 shared Heidi L. RehmiD· 2 shared Amanda Thomas‐WilsoniD· 1 shared Ana S.A. CoheniD· 1 shared Anna SzutoiD· 1 shared Brittany C. ThomasiD· 1 shared Carol SaundersiD· 1 shared Christian R. MarshalliD· 1 shared

Activity by Year

2017-2023 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 37 mutual co-author links

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2 shared papersGenetics

Douglas R. SmithORCID

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Author profile →

3 papers

Recent·Most cited

The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change

Heidi L. Rehm, Joseph T. Alaimo, Swaroop Aradhya, Pınar Bayrak‐Toydemir, Hunter D. Best, Rhonda C. Brandon, Jillian G. Buchan, Elizabeth Chao, Elaine Y. Chen, Jacob Clifford, Ana S.A. Cohen, Laura Kathleen Conlin, Soma Das, Kyle Davis, Daniela del Gaudio, , Stephen Francis Kingsmore

The paper analyzes VUS rates in genetic testing and finds lower rates in exome/genome sequencing compared to multi-gene panels, suggesting improvements in variant reporting practices.

Genetics in Medicine · Jul 30, 2023Peer-reviewedGenetic & Genomic Medicine

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