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Zornitza Stark

Showing results (151-160 of 270) with videos related to

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Genome Medicine|July 29, 2015
Cpipe: a shared variant detection pipeline designed for diagnostic settingsSimon P Sadedin, Harriet Dashnow, Paul A James, et al.
Human Molecular Genetics|September 20, 2021
Compound heterozygous variants in SHQ1 are associated with a spectrum of neurological features, including early-onset dystoniaSophie Sleiman, Aren E Marshall, Xiaomin Dong, et al.
Nature Medicine|November 27, 2025
Determining the value of genomics in healthcareIlias Goranitis, Robin Z Hayeems, Hadley Stevens Smith, et al.
European Journal of Human Genetics : EJHG|May 25, 2024
Reanalysis of genomic data in rare disease: current practice and attitudes among Australian clinical and laboratory genetics servicesStephanie Best, Zoe Fehlberg, Christopher Richards, et al.
Journal of Paediatrics and Child Health|July 5, 2025
Genomic Screening Consortium for Australian Newborns (GenSCAN)Natalie Taylor, Michelle Pirreca, Bruce Bennetts, et al.
Human Mutation|November 10, 2020
Multiomic analysis elucidates Complex I deficiency caused by a deep intronic variant in NDUFB10Guy Helman, Alison G Compton, Daniella H Hock, et al.
American Journal of Medical Genetics. Part A|June 15, 2011
Phenotypic variability of distal 22q11.2 copy number abnormalitiesTiong Yang Tan, Amanda Collins, Paul A James, et al.
Nature Reviews. Genetics|October 7, 2024
A call to action to scale up research and clinical genomic data sharingZornitza Stark, David Glazer, Oliver Hofmann, et al.
American Journal of Human Genetics|February 5, 2026
Variant interpretation training for the genomics era: Learning outcomes to inform professional competencies and educationAmy Nisselle, Douglas Liddicoat, Corrina Cliffe, et al.
Epilepsia Open|May 4, 2026
KCNQ2 neonatal epilepsy: Impact of prompt diagnosis and treatment, and early predictors of outcome severityTrupti Jadhav, Sophie E Bouffler, Emily Innes, et al.
Pageof 27

Showing results (151-160 of 270) with videos related to

Sort By:
Pageof 27
Genome Medicine|July 29, 2015
Cpipe: a shared variant detection pipeline designed for diagnostic settingsSimon P Sadedin, Harriet Dashnow, Paul A James, et al.
Human Molecular Genetics|September 20, 2021
Compound heterozygous variants in SHQ1 are associated with a spectrum of neurological features, including early-onset dystoniaSophie Sleiman, Aren E Marshall, Xiaomin Dong, et al.
Nature Medicine|November 27, 2025
Determining the value of genomics in healthcareIlias Goranitis, Robin Z Hayeems, Hadley Stevens Smith, et al.
European Journal of Human Genetics : EJHG|May 25, 2024
Reanalysis of genomic data in rare disease: current practice and attitudes among Australian clinical and laboratory genetics servicesStephanie Best, Zoe Fehlberg, Christopher Richards, et al.
Journal of Paediatrics and Child Health|July 5, 2025
Genomic Screening Consortium for Australian Newborns (GenSCAN)Natalie Taylor, Michelle Pirreca, Bruce Bennetts, et al.
Human Mutation|November 10, 2020
Multiomic analysis elucidates Complex I deficiency caused by a deep intronic variant in NDUFB10Guy Helman, Alison G Compton, Daniella H Hock, et al.
American Journal of Medical Genetics. Part A|June 15, 2011
Phenotypic variability of distal 22q11.2 copy number abnormalitiesTiong Yang Tan, Amanda Collins, Paul A James, et al.
Nature Reviews. Genetics|October 7, 2024
A call to action to scale up research and clinical genomic data sharingZornitza Stark, David Glazer, Oliver Hofmann, et al.
American Journal of Human Genetics|February 5, 2026
Variant interpretation training for the genomics era: Learning outcomes to inform professional competencies and educationAmy Nisselle, Douglas Liddicoat, Corrina Cliffe, et al.
Epilepsia Open|May 4, 2026
KCNQ2 neonatal epilepsy: Impact of prompt diagnosis and treatment, and early predictors of outcome severityTrupti Jadhav, Sophie E Bouffler, Emily Innes, et al.
Pageof 27