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Narasimhan Nagan

Showing results (11-20 of 23) with videos related to

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Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 4, 2025
Distinct rates of VUS reclassification are observed when subclassifying VUS by evidence levelGwendolyn Bennett, Izabela Karbassi, Wenjie Chen, et al.
Clinical Chemistry|February 11, 2016
Classifying Germline Sequence Variants in the Era of Next-Generation SequencingLinnea M Baudhuin, Birgit H Funke, Lora H Bean, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 19, 2015
Exploring the landscape of pathogenic genetic variation in the ExAC population database: insights of relevance to variant classificationWei Song, Sabrina A Gardner, Hayk Hovhannisyan, et al.
European Journal of Human Genetics : EJHG|August 4, 2011
Pan-ethnic carrier screening and prenatal diagnosis for spinal muscular atrophy: clinical laboratory analysis of >72,400 specimensElaine A Sugarman, Narasimhan Nagan, Hui Zhu, et al.
Clinical Chemistry|April 9, 2011
Cystic fibrosis carrier testing in an ethnically diverse US populationElizabeth M Rohlfs, Zhaoqing Zhou, Ruth A Heim, et al.
Hereditary Cancer in Clinical Practice|January 9, 2018
Evaluation of a 27-gene inherited cancer panel across 630 consecutive patients referred for testing in a clinical diagnostic laboratorySabrina A Gardner, Katelyn S Weymouth, Wei S Kelly, et al.
The Journal of Molecular Diagnostics : JMD|August 25, 2012
Opportunities and challenges associated with clinical diagnostic genome sequencing: a report of the Association for Molecular PathologyIris Schrijver, Nazneen Aziz, Daniel H Farkas, et al.
Cancer Genetics|August 16, 2023
Clinical characterization of the mutational landscape of 24,639 real-world samples from patients with myeloid malignanciesGrant Hogg, Eric A Severson, Li Cai, et al.
Human Mutation|October 13, 2018
Scaling resolution of variant classification differences in ClinVar between 41 clinical laboratories through an outlier approachSteven M Harrison, Jill S Dolinksy, Wenjie Chen, et al.
Brain : a Journal of Neurology|March 7, 2008
REEP1 mutation spectrum and genotype/phenotype correlation in hereditary spastic paraplegia type 31Christian Beetz, Rebecca Schüle, Tine Deconinck, et al.
Pageof 3

Showing results (11-20 of 23) with videos related to

Sort By:
Pageof 3
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 4, 2025
Distinct rates of VUS reclassification are observed when subclassifying VUS by evidence levelGwendolyn Bennett, Izabela Karbassi, Wenjie Chen, et al.
Clinical Chemistry|February 11, 2016
Classifying Germline Sequence Variants in the Era of Next-Generation SequencingLinnea M Baudhuin, Birgit H Funke, Lora H Bean, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 19, 2015
Exploring the landscape of pathogenic genetic variation in the ExAC population database: insights of relevance to variant classificationWei Song, Sabrina A Gardner, Hayk Hovhannisyan, et al.
European Journal of Human Genetics : EJHG|August 4, 2011
Pan-ethnic carrier screening and prenatal diagnosis for spinal muscular atrophy: clinical laboratory analysis of >72,400 specimensElaine A Sugarman, Narasimhan Nagan, Hui Zhu, et al.
Clinical Chemistry|April 9, 2011
Cystic fibrosis carrier testing in an ethnically diverse US populationElizabeth M Rohlfs, Zhaoqing Zhou, Ruth A Heim, et al.
Hereditary Cancer in Clinical Practice|January 9, 2018
Evaluation of a 27-gene inherited cancer panel across 630 consecutive patients referred for testing in a clinical diagnostic laboratorySabrina A Gardner, Katelyn S Weymouth, Wei S Kelly, et al.
The Journal of Molecular Diagnostics : JMD|August 25, 2012
Opportunities and challenges associated with clinical diagnostic genome sequencing: a report of the Association for Molecular PathologyIris Schrijver, Nazneen Aziz, Daniel H Farkas, et al.
Cancer Genetics|August 16, 2023
Clinical characterization of the mutational landscape of 24,639 real-world samples from patients with myeloid malignanciesGrant Hogg, Eric A Severson, Li Cai, et al.
Human Mutation|October 13, 2018
Scaling resolution of variant classification differences in ClinVar between 41 clinical laboratories through an outlier approachSteven M Harrison, Jill S Dolinksy, Wenjie Chen, et al.
Brain : a Journal of Neurology|March 7, 2008
REEP1 mutation spectrum and genotype/phenotype correlation in hereditary spastic paraplegia type 31Christian Beetz, Rebecca Schüle, Tine Deconinck, et al.
Pageof 3