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Susan M White

Showing results (131-140 of 160) with videos related to

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The Lancet. Neurology|August 18, 2023
Evaluation of the feasibility, diagnostic yield, and clinical utility of rapid genome sequencing in infantile epilepsy (Gene-STEPS): an international, multicentre, pilot cohort studyAlissa M D'Gama, Sarah Mulhern, Beth R Sheidley, et al.
American Journal of Human Genetics|April 4, 2020
DNA Methylation Signature for EZH2 Functionally Classifies Sequence Variants in Three PRC2 Complex GenesSanaa Choufani, William T Gibson, Andrei L Turinsky, et al.
HGG Advances|April 17, 2025
Mitochondrial DNA variant detection in over 6,500 rare disease families by the systematic analysis of exome and genome sequencing data resolves undiagnosed casesSarah L Stenton, Kristen Laricchia, Nicole J Lake, et al.
Human Mutation|February 16, 2022
Further delineation of auriculocondylar syndrome based on 14 novel cases and reassessment of 25 published casesNancy Vegas, Zeynep Demir, Christopher T Gordon, et al.
American Journal of Human Genetics|December 9, 2017
ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental DisorderSara Cuvertino, Helen M Stuart, Kate E Chandler, et al.
Neurology|February 13, 2026
Diagnostic Yield of Comprehensive Reanalysis After Nondiagnostic Short-Read Genome Sequencing in Infants With Unexplained EpilepsyJimmy N H Nguyen, Maria Lachgar-Ruiz, Edward J Higginbotham, et al.
American Journal of Human Genetics|July 30, 2021
Scaling national and international improvement in virtual gene panel curation via a collaborative approach to discordance resolutionZornitza Stark, Rebecca E Foulger, Eleanor Williams, et al.
American Journal of Human Genetics|April 19, 2023
POLR1A variants underlie phenotypic heterogeneity in craniofacial, neural, and cardiac anomaliesKelly Smallwood, Kristin E N Watt, Satoru Ide, et al.
Human Mutation|January 4, 2012
Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific databaseMatthew Bower, Rémi Salomon, Judith Allanson, et al.
American Journal of Human Genetics|May 19, 2021
Bi-allelic variants in IPO8 cause a connective tissue disorder associated with cardiovascular defects, skeletal abnormalities, and immune dysregulationAlban Ziegler, Rémi Duclaux-Loras, Céline Revenu, et al.
Pageof 16

Showing results (131-140 of 160) with videos related to

Sort By:
Pageof 16
The Lancet. Neurology|August 18, 2023
Evaluation of the feasibility, diagnostic yield, and clinical utility of rapid genome sequencing in infantile epilepsy (Gene-STEPS): an international, multicentre, pilot cohort studyAlissa M D'Gama, Sarah Mulhern, Beth R Sheidley, et al.
American Journal of Human Genetics|April 4, 2020
DNA Methylation Signature for EZH2 Functionally Classifies Sequence Variants in Three PRC2 Complex GenesSanaa Choufani, William T Gibson, Andrei L Turinsky, et al.
HGG Advances|April 17, 2025
Mitochondrial DNA variant detection in over 6,500 rare disease families by the systematic analysis of exome and genome sequencing data resolves undiagnosed casesSarah L Stenton, Kristen Laricchia, Nicole J Lake, et al.
Human Mutation|February 16, 2022
Further delineation of auriculocondylar syndrome based on 14 novel cases and reassessment of 25 published casesNancy Vegas, Zeynep Demir, Christopher T Gordon, et al.
American Journal of Human Genetics|December 9, 2017
ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental DisorderSara Cuvertino, Helen M Stuart, Kate E Chandler, et al.
Neurology|February 13, 2026
Diagnostic Yield of Comprehensive Reanalysis After Nondiagnostic Short-Read Genome Sequencing in Infants With Unexplained EpilepsyJimmy N H Nguyen, Maria Lachgar-Ruiz, Edward J Higginbotham, et al.
American Journal of Human Genetics|July 30, 2021
Scaling national and international improvement in virtual gene panel curation via a collaborative approach to discordance resolutionZornitza Stark, Rebecca E Foulger, Eleanor Williams, et al.
American Journal of Human Genetics|April 19, 2023
POLR1A variants underlie phenotypic heterogeneity in craniofacial, neural, and cardiac anomaliesKelly Smallwood, Kristin E N Watt, Satoru Ide, et al.
Human Mutation|January 4, 2012
Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific databaseMatthew Bower, Rémi Salomon, Judith Allanson, et al.
American Journal of Human Genetics|May 19, 2021
Bi-allelic variants in IPO8 cause a connective tissue disorder associated with cardiovascular defects, skeletal abnormalities, and immune dysregulationAlban Ziegler, Rémi Duclaux-Loras, Céline Revenu, et al.
Pageof 16