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David R Murdock

Showing results (21-30 of 48) with videos related to

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Clinical Genetics|March 2, 2023
An FBN1 deep intronic variant is associated with pseudoexon formation and a variable Marfan phenotype in a five generation familyDong-Chuan Guo, Xueyan Duan, Kathleen Mimnagh, et al.
Circulation. Genomic and Precision Medicine|October 25, 2022
Patient and Clinician Perceptions of Precision Cardiology Care: Findings From the HeartCare StudyHadley Stevens Smith, Clarissa E Sanchez, Ronald Maag, et al.
Science Translational Medicine|June 17, 2011
Whole-genome sequencing for optimized patient managementMatthew N Bainbridge, Wojciech Wiszniewski, David R Murdock, et al.
NPJ Genomic Medicine|March 22, 2025
Non-canonical splice variants in thoracic aortic dissection cases and Marfan syndrome with negative genetic testingDavid R Murdock, Dong-Chuan Guo, John S DePaolo, et al.
American Journal of Medical Genetics. Part A|February 23, 2022
PRUNE1 c.933G>A synonymous variant induces exon 7 skipping, disrupts the DHHA2 domain, and leads to an atypical NMIHBA syndrome presentation: Case report and review of the literatureChristina L Magyar, David R Murdock, Lindsay C Burrage, et al.
Human Mutation|March 1, 2021
Phenotypic and protein localization heterogeneity associated with AHDC1 pathogenic protein-truncating alleles in Xia-Gibbs syndromeMichael M Khayat, He Li, Varuna Chander, et al.
The Journal of Clinical Investigation|October 1, 2020
Transcriptome-directed analysis for Mendelian disease diagnosis overcomes limitations of conventional genomic testingDavid R Murdock, Hongzheng Dai, Lindsay C Burrage, et al.
American Journal of Human Genetics|April 25, 2020
De Novo Variants in CDK19 Are Associated with a Syndrome Involving Intellectual Disability and Epileptic EncephalopathyHyung-Lok Chung, Xiao Mao, Hua Wang, et al.
American Journal of Medical Genetics. Part A|September 25, 2023
De novo missense variants in ZBTB47 are associated with developmental delays, hypotonia, seizures, gait abnormalities, and variable movement abnormalitiesScott K Ward, Alexandrea Wadley, Chun-Hui Anne Tsai, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 13, 2021
Commonalities across computational workflows for uncovering explanatory variants in undiagnosed casesShilpa Nadimpalli Kobren, Dustin Baldridge, Matt Velinder, et al.
Pageof 5

Showing results (21-30 of 48) with videos related to

Sort By:
Pageof 5
Clinical Genetics|March 2, 2023
An FBN1 deep intronic variant is associated with pseudoexon formation and a variable Marfan phenotype in a five generation familyDong-Chuan Guo, Xueyan Duan, Kathleen Mimnagh, et al.
Circulation. Genomic and Precision Medicine|October 25, 2022
Patient and Clinician Perceptions of Precision Cardiology Care: Findings From the HeartCare StudyHadley Stevens Smith, Clarissa E Sanchez, Ronald Maag, et al.
Science Translational Medicine|June 17, 2011
Whole-genome sequencing for optimized patient managementMatthew N Bainbridge, Wojciech Wiszniewski, David R Murdock, et al.
NPJ Genomic Medicine|March 22, 2025
Non-canonical splice variants in thoracic aortic dissection cases and Marfan syndrome with negative genetic testingDavid R Murdock, Dong-Chuan Guo, John S DePaolo, et al.
American Journal of Medical Genetics. Part A|February 23, 2022
PRUNE1 c.933G>A synonymous variant induces exon 7 skipping, disrupts the DHHA2 domain, and leads to an atypical NMIHBA syndrome presentation: Case report and review of the literatureChristina L Magyar, David R Murdock, Lindsay C Burrage, et al.
Human Mutation|March 1, 2021
Phenotypic and protein localization heterogeneity associated with AHDC1 pathogenic protein-truncating alleles in Xia-Gibbs syndromeMichael M Khayat, He Li, Varuna Chander, et al.
The Journal of Clinical Investigation|October 1, 2020
Transcriptome-directed analysis for Mendelian disease diagnosis overcomes limitations of conventional genomic testingDavid R Murdock, Hongzheng Dai, Lindsay C Burrage, et al.
American Journal of Human Genetics|April 25, 2020
De Novo Variants in CDK19 Are Associated with a Syndrome Involving Intellectual Disability and Epileptic EncephalopathyHyung-Lok Chung, Xiao Mao, Hua Wang, et al.
American Journal of Medical Genetics. Part A|September 25, 2023
De novo missense variants in ZBTB47 are associated with developmental delays, hypotonia, seizures, gait abnormalities, and variable movement abnormalitiesScott K Ward, Alexandrea Wadley, Chun-Hui Anne Tsai, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 13, 2021
Commonalities across computational workflows for uncovering explanatory variants in undiagnosed casesShilpa Nadimpalli Kobren, Dustin Baldridge, Matt Velinder, et al.
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