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Kelly D Farwell

Showing results (11-20 of 30) with videos related to

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The Journal of Molecular Diagnostics : JMD|May 19, 2023
Recommendations for Next-Generation Sequencing Germline Variant Confirmation: A Joint Report of the Association for Molecular Pathology and National Society of Genetic CounselorsKristy R Crooks, Kelly D Farwell Hagman, Diana Mandelker, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 26, 2025
Impact of laboratory-driven proactive reanalysis: Reclassification to positive in 5% of initially negative or uncertain exome sequencing casesMeghan C Towne, Jennifer Huang, Sheila Saliganan, et al.
Human Mutation|February 10, 2022
Diagnostic testing laboratories are valuable partners for disease gene discovery: 5-year experience with GeneMatcherMeghan C Towne, Mari Rossi, Bess Wayburn, et al.
JIMD Reports|March 26, 2014
Diagnostic Exome Sequencing and Tailored Bioinformatics of the Parents of a Deceased Child with Cobalamin Deficiency Suggests Digenic Inheritance of the MTR and LMBRD1 GenesKelly D Farwell Gonzalez, Xiang Li, Hsiao-Mei Lu, et al.
Plos One|February 3, 2017
Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panelsHolly LaDuca, Kelly D Farwell, Huy Vuong, et al.
Human Mutation|October 15, 2015
Diagnostic Exome Sequencing Identifies a Novel Gene, EMILIN1, Associated with Autosomal-Dominant Hereditary Connective Tissue DiseaseAlessandra Capuano, Francesco Bucciotti, Kelly D Farwell, et al.
Human Mutation|January 21, 2017
Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and ReclassificationsErica D Smith, Kelly Radtke, Mari Rossi, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 20, 2018
Detection of structural variation using target captured next-generation sequencing data for genetic diagnostic testingWenbo Mu, Bing Li, Sitao Wu, et al.
Molecular Genetics & Genomic Medicine|December 25, 2019
When moments matter: Finding answers with rapid exome sequencingZöe Powis, Kelly D Farwell Hagman, Kirsten Blanco, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 23, 2018
Exome sequencing in neonates: diagnostic rates, characteristics, and time to diagnosisZöe Powis, Kelly D Farwell Hagman, Virginia Speare, et al.
Pageof 3

Showing results (11-20 of 30) with videos related to

Sort By:
Pageof 3
The Journal of Molecular Diagnostics : JMD|May 19, 2023
Recommendations for Next-Generation Sequencing Germline Variant Confirmation: A Joint Report of the Association for Molecular Pathology and National Society of Genetic CounselorsKristy R Crooks, Kelly D Farwell Hagman, Diana Mandelker, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 26, 2025
Impact of laboratory-driven proactive reanalysis: Reclassification to positive in 5% of initially negative or uncertain exome sequencing casesMeghan C Towne, Jennifer Huang, Sheila Saliganan, et al.
Human Mutation|February 10, 2022
Diagnostic testing laboratories are valuable partners for disease gene discovery: 5-year experience with GeneMatcherMeghan C Towne, Mari Rossi, Bess Wayburn, et al.
JIMD Reports|March 26, 2014
Diagnostic Exome Sequencing and Tailored Bioinformatics of the Parents of a Deceased Child with Cobalamin Deficiency Suggests Digenic Inheritance of the MTR and LMBRD1 GenesKelly D Farwell Gonzalez, Xiang Li, Hsiao-Mei Lu, et al.
Plos One|February 3, 2017
Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panelsHolly LaDuca, Kelly D Farwell, Huy Vuong, et al.
Human Mutation|October 15, 2015
Diagnostic Exome Sequencing Identifies a Novel Gene, EMILIN1, Associated with Autosomal-Dominant Hereditary Connective Tissue DiseaseAlessandra Capuano, Francesco Bucciotti, Kelly D Farwell, et al.
Human Mutation|January 21, 2017
Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and ReclassificationsErica D Smith, Kelly Radtke, Mari Rossi, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 20, 2018
Detection of structural variation using target captured next-generation sequencing data for genetic diagnostic testingWenbo Mu, Bing Li, Sitao Wu, et al.
Molecular Genetics & Genomic Medicine|December 25, 2019
When moments matter: Finding answers with rapid exome sequencingZöe Powis, Kelly D Farwell Hagman, Kirsten Blanco, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 23, 2018
Exome sequencing in neonates: diagnostic rates, characteristics, and time to diagnosisZöe Powis, Kelly D Farwell Hagman, Virginia Speare, et al.
Pageof 3