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Gregory Costain

Showing results (91-100 of 144) with videos related to

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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.
Neurology. Genetics|May 22, 2025
<i>PRRT</i> <i>2</i>-Related Epilepsy: From Self-Limited Infantile Epilepsy to Atypical Epilepsy PhenotypesMadeline Komar, Jashanpreet Sidhu, Jiju Joseph, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 9, 2018
De novo missense variants in RAC3 cause a novel neurodevelopmental syndromeGregory Costain, Bert Callewaert, Heinz Gabriel, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 25, 2025
A Microcosting and Cost Consequence Analysis from a Randomized Controlled Trial Comparing Genome Sequencing to Exome Sequencing for Genetic DiagnosisWendy J Ungar, Vercancy Wu, Christian R Marshall, et al.
Circulation|July 1, 2018
Reappraisal of Reported Genes for Sudden Arrhythmic Death: Evidence-Based Evaluation of Gene Validity for Brugada SyndromeS Mohsen Hosseini, Raymond Kim, Sharmila Udupa, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2021
The Clinician-reported Genetic testing Utility InDEx (C-GUIDE): Preliminary evidence of validity and reliabilityRobin Z Hayeems, Stephanie Luca, Wendy J Ungar, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 21, 2018
Haploinsufficiency of vascular endothelial growth factor related signaling genes is associated with tetralogy of FallotMiriam S Reuter, Rebekah Jobling, Rajiv R Chaturvedi, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 9, 2015
Practical guidelines for managing adults with 22q11.2 deletion syndromeWai Lun Alan Fung, Nancy J Butcher, Gregory Costain, et al.
NPJ Genomic Medicine|July 2, 2025
Assessing the diagnostic impact of blood transcriptome profiling in a pediatric cohort previously assessed by genome sequencingHuayun Hou, Kyoko E Yuki, Gregory Costain, et al.
NPJ Genomic Medicine|April 6, 2024
Consensus reporting guidelines to address gaps in descriptions of ultra-rare genetic conditionsAli AlMail, Ahmed Jamjoom, Amy Pan, et al.
Pageof 15

Showing results (91-100 of 144) with videos related to

Sort By:
Pageof 15
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.
Neurology. Genetics|May 22, 2025
<i>PRRT</i> <i>2</i>-Related Epilepsy: From Self-Limited Infantile Epilepsy to Atypical Epilepsy PhenotypesMadeline Komar, Jashanpreet Sidhu, Jiju Joseph, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 9, 2018
De novo missense variants in RAC3 cause a novel neurodevelopmental syndromeGregory Costain, Bert Callewaert, Heinz Gabriel, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 25, 2025
A Microcosting and Cost Consequence Analysis from a Randomized Controlled Trial Comparing Genome Sequencing to Exome Sequencing for Genetic DiagnosisWendy J Ungar, Vercancy Wu, Christian R Marshall, et al.
Circulation|July 1, 2018
Reappraisal of Reported Genes for Sudden Arrhythmic Death: Evidence-Based Evaluation of Gene Validity for Brugada SyndromeS Mohsen Hosseini, Raymond Kim, Sharmila Udupa, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2021
The Clinician-reported Genetic testing Utility InDEx (C-GUIDE): Preliminary evidence of validity and reliabilityRobin Z Hayeems, Stephanie Luca, Wendy J Ungar, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 21, 2018
Haploinsufficiency of vascular endothelial growth factor related signaling genes is associated with tetralogy of FallotMiriam S Reuter, Rebekah Jobling, Rajiv R Chaturvedi, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 9, 2015
Practical guidelines for managing adults with 22q11.2 deletion syndromeWai Lun Alan Fung, Nancy J Butcher, Gregory Costain, et al.
NPJ Genomic Medicine|July 2, 2025
Assessing the diagnostic impact of blood transcriptome profiling in a pediatric cohort previously assessed by genome sequencingHuayun Hou, Kyoko E Yuki, Gregory Costain, et al.
NPJ Genomic Medicine|April 6, 2024
Consensus reporting guidelines to address gaps in descriptions of ultra-rare genetic conditionsAli AlMail, Ahmed Jamjoom, Amy Pan, et al.
Pageof 15