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James Stavropoulos

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

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Prenatal Diagnosis|January 28, 2022
Diagnostic yield of genome sequencing for prenatal diagnosis of fetal structural anomaliesYiming Wang, Elena Greenfeld, Nicholas Watkins, et al.
NPJ Genomic Medicine|December 22, 2017
Atypical autism in a boy with double duplication of 22q11.2: implications of increasing dosageBreanne Dale, Bonnie MacKinnon Modi, Sanne Jilderda, et al.
European Journal of Human Genetics : EJHG|November 17, 2011
Severe intellectual disability and autistic features associated with microduplication 2q23.1Brian H Y Chung, Sureni Mullegama, Christian R Marshall, et al.
Journal of Neurodevelopmental Disorders|February 9, 2019
Rare copy number variations affecting the synaptic gene DMXL2 in neurodevelopmental disordersGregory Costain, Susan Walker, Bob Argiropoulos, et al.
European Journal of Human Genetics : EJHG|November 22, 2017
Care and cost consequences of pediatric whole genome sequencing compared to chromosome microarrayRobin Z Hayeems, Jasmin Bhawra, Kate Tsiplova, et al.
Cell Reports|May 25, 2022
Regionally defined proteomic profiles of human cerebral tissue and organoids reveal conserved molecular modules of neurodevelopmentSofia Melliou, Kevin T Sangster, Jennifer Kao, et al.
Clinical Therapeutics|July 15, 2023
Protocol for a Prospective, Observational Cost-effectiveness Analysis of Returning Secondary Findings of Genome Sequencing for Unexplained Suspected Genetic ConditionsWendy J Ungar, Robin Z Hayeems, Christian R Marshall, et al.
American Journal of Human Genetics|December 22, 2015
Spell Checking Nature: Versatility of CRISPR/Cas9 for Developing Treatments for Inherited DisordersDaria Wojtal, Dwi U Kemaladewi, Zeenat Malam, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 14, 2025
Comparing the performance of exome and genome sequencing for rare disease diagnostics: A randomized implementation effectiveness trialRobin Z Hayeems, Wendy J Ungar, Christian R Marshall, et al.
BMC Medical Genomics|January 30, 2013
Multilocus loss of DNA methylation in individuals with mutations in the histone H3 lysine 4 demethylase KDM5CDaria Grafodatskaya, Barian H Y Chung, Darci T Butcher, et al.
Pageof 3

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

Sort By:
Pageof 3
Prenatal Diagnosis|January 28, 2022
Diagnostic yield of genome sequencing for prenatal diagnosis of fetal structural anomaliesYiming Wang, Elena Greenfeld, Nicholas Watkins, et al.
NPJ Genomic Medicine|December 22, 2017
Atypical autism in a boy with double duplication of 22q11.2: implications of increasing dosageBreanne Dale, Bonnie MacKinnon Modi, Sanne Jilderda, et al.
European Journal of Human Genetics : EJHG|November 17, 2011
Severe intellectual disability and autistic features associated with microduplication 2q23.1Brian H Y Chung, Sureni Mullegama, Christian R Marshall, et al.
Journal of Neurodevelopmental Disorders|February 9, 2019
Rare copy number variations affecting the synaptic gene DMXL2 in neurodevelopmental disordersGregory Costain, Susan Walker, Bob Argiropoulos, et al.
European Journal of Human Genetics : EJHG|November 22, 2017
Care and cost consequences of pediatric whole genome sequencing compared to chromosome microarrayRobin Z Hayeems, Jasmin Bhawra, Kate Tsiplova, et al.
Cell Reports|May 25, 2022
Regionally defined proteomic profiles of human cerebral tissue and organoids reveal conserved molecular modules of neurodevelopmentSofia Melliou, Kevin T Sangster, Jennifer Kao, et al.
Clinical Therapeutics|July 15, 2023
Protocol for a Prospective, Observational Cost-effectiveness Analysis of Returning Secondary Findings of Genome Sequencing for Unexplained Suspected Genetic ConditionsWendy J Ungar, Robin Z Hayeems, Christian R Marshall, et al.
American Journal of Human Genetics|December 22, 2015
Spell Checking Nature: Versatility of CRISPR/Cas9 for Developing Treatments for Inherited DisordersDaria Wojtal, Dwi U Kemaladewi, Zeenat Malam, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 14, 2025
Comparing the performance of exome and genome sequencing for rare disease diagnostics: A randomized implementation effectiveness trialRobin Z Hayeems, Wendy J Ungar, Christian R Marshall, et al.
BMC Medical Genomics|January 30, 2013
Multilocus loss of DNA methylation in individuals with mutations in the histone H3 lysine 4 demethylase KDM5CDaria Grafodatskaya, Barian H Y Chung, Darci T Butcher, et al.
Pageof 3