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Rebecca Truty

Showing results (1-10 of 31) with videos related to

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Immunologic Research|May 29, 2020
Jeffrey's insights: Jeffrey Modell Foundation's global genetic sequencing pilot program to identify specific primary immunodeficiency defects to optimize disease management and treatmentJessica Quinn, Vicki Modell, Jennifer Holle, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 14, 2018
Prevalence and properties of intragenic copy-number variation in Mendelian disease genesRebecca Truty, Joshua Paul, Michael Kennemer, et al.
American Journal of Medical Genetics. Part A|May 16, 2022
Systematic use of phenotype evidence in clinical genetic testing reduces the frequency of variants of uncertain significanceBritt Johnson, Karen Ouyang, Lauren Frank, et al.
Bioinformatics (Oxford, England)|December 10, 2020
Prioritizing genes for systematic variant effect mappingDa Kuang, Rebecca Truty, Jochen Weile, et al.
Familial Cancer|October 8, 2021
Re-evaluating cancer risks associated with the CHEK2 p.Ser428Phe Ashkenazi Jewish founder pathogenic variantYael Laitman, Sarah M Nielsen, Kathryn E Hatchell, et al.
Circulation. Genomic and Precision Medicine|February 1, 2021
Common Variants in <i>KCNE1, KCNH2</i>, and <i>SCN5A</i> May Impact Cardiac Arrhythmia RiskMatteo Vatta, Rebecca Truty, John Garcia, et al.
The Lancet. Respiratory Medicine|January 20, 2022
The global prevalence and ethnic heterogeneity of primary ciliary dyskinesia gene variants: a genetic database analysisWilliam B Hannah, Bryce A Seifert, Rebecca Truty, et al.
Human Mutation|July 1, 2021
Elucidating clinical phenotypic variability associated with the polyT tract and TG repeats in CFTRKeith Nykamp, Rebecca Truty, Darlene Riethmaier, et al.
Genetic Testing and Molecular Biomarkers|July 30, 2020
Incorporating Spinal Muscular Atrophy Analysis by Next-Generation Sequencing into a Comprehensive Multigene Panel for Neuromuscular DisordersChristopher A Tan, Marjorie Jody Westbrook, Rebecca Truty, et al.
American Journal of Human Genetics|March 20, 2021
Spectrum of splicing variants in disease genes and the ability of RNA analysis to reduce uncertainty in clinical interpretationRebecca Truty, Karen Ouyang, Susan Rojahn, et al.
Pageof 4

Showing results (1-10 of 31) with videos related to

Sort By:
Pageof 4
Immunologic Research|May 29, 2020
Jeffrey's insights: Jeffrey Modell Foundation's global genetic sequencing pilot program to identify specific primary immunodeficiency defects to optimize disease management and treatmentJessica Quinn, Vicki Modell, Jennifer Holle, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 14, 2018
Prevalence and properties of intragenic copy-number variation in Mendelian disease genesRebecca Truty, Joshua Paul, Michael Kennemer, et al.
American Journal of Medical Genetics. Part A|May 16, 2022
Systematic use of phenotype evidence in clinical genetic testing reduces the frequency of variants of uncertain significanceBritt Johnson, Karen Ouyang, Lauren Frank, et al.
Bioinformatics (Oxford, England)|December 10, 2020
Prioritizing genes for systematic variant effect mappingDa Kuang, Rebecca Truty, Jochen Weile, et al.
Familial Cancer|October 8, 2021
Re-evaluating cancer risks associated with the CHEK2 p.Ser428Phe Ashkenazi Jewish founder pathogenic variantYael Laitman, Sarah M Nielsen, Kathryn E Hatchell, et al.
Circulation. Genomic and Precision Medicine|February 1, 2021
Common Variants in <i>KCNE1, KCNH2</i>, and <i>SCN5A</i> May Impact Cardiac Arrhythmia RiskMatteo Vatta, Rebecca Truty, John Garcia, et al.
The Lancet. Respiratory Medicine|January 20, 2022
The global prevalence and ethnic heterogeneity of primary ciliary dyskinesia gene variants: a genetic database analysisWilliam B Hannah, Bryce A Seifert, Rebecca Truty, et al.
Human Mutation|July 1, 2021
Elucidating clinical phenotypic variability associated with the polyT tract and TG repeats in CFTRKeith Nykamp, Rebecca Truty, Darlene Riethmaier, et al.
Genetic Testing and Molecular Biomarkers|July 30, 2020
Incorporating Spinal Muscular Atrophy Analysis by Next-Generation Sequencing into a Comprehensive Multigene Panel for Neuromuscular DisordersChristopher A Tan, Marjorie Jody Westbrook, Rebecca Truty, et al.
American Journal of Human Genetics|March 20, 2021
Spectrum of splicing variants in disease genes and the ability of RNA analysis to reduce uncertainty in clinical interpretationRebecca Truty, Karen Ouyang, Susan Rojahn, et al.
Pageof 4