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Gregory Costain

Showing results (101-110 of 144) with videos related to

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NPJ Genomic Medicine|May 25, 2026
Expanding the phenotypic spectrum of FGF12-epilepsy-does prompt precision therapy affect outcomes?Leo Arkush, Kristina Karandasheva, Frédérique Ouellet, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 29, 2020
Cell-based analysis of CAD variants identifies individuals likely to benefit from uridine therapyFrancisco Del Caño-Ochoa, Bobby G Ng, Malak Abedalthagafi, et al.
Cell|June 13, 2024
A pseudoautosomal glycosylation disorder prompts the revision of dolichol biosynthesisMatthew P Wilson, Takfarinas Kentache, Charlotte R Althoff, et al.
Cell|May 31, 2024
A pseudoautosomal glycosylation disorder prompts the revision of dolichol biosynthesisMatthew P Wilson, Takfarinas Kentache, Charlotte R Althoff, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 15, 2025
Screening rare genetic diagnoses for amenability to bespoke antisense oligonucleotide therapy development: A retrospective cohort studyDavid Cheerie, Marlen C Lauffer, Logan Newton, et al.
BMJ Open|August 10, 2025
TRIAGE-GS: protocol for a randomised controlled trial of a genomics-first approach to rare disease diagnosis for patients awaiting assessment by a clinical geneticistKaitlin J Stanley, Caitlin Chisholm, Meredith K Gillespie, et al.
Frontiers in Molecular Neuroscience|March 3, 2020
Expanding Clinical Presentations Due to Variations in THOC2 mRNA Nuclear Export FactorRaman Kumar, Elizabeth Palmer, Alison E Gardner, et al.
JAMA Network Open|September 22, 2020
Genome Sequencing as a Diagnostic Test in Children With Unexplained Medical ComplexityGregory Costain, Susan Walker, Maria Marano, et al.
NPJ Genomic Medicine|February 27, 2025
International Precision Child Health Partnership (IPCHiP): an initiative to accelerate discovery and improve outcomes in rare pediatric diseaseKatherine B Howell, Susan M White, Amy McTague, et al.
JAMA Neurology|May 4, 2026
Precision Antisense Oligonucleotide Therapy Amenability for Infantile Genetic EpilepsiesEmma Sherrill, David Cheerie, Cara J Beck, et al.
Pageof 15

Showing results (101-110 of 144) with videos related to

Sort By:
Pageof 15
NPJ Genomic Medicine|May 25, 2026
Expanding the phenotypic spectrum of FGF12-epilepsy-does prompt precision therapy affect outcomes?Leo Arkush, Kristina Karandasheva, Frédérique Ouellet, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 29, 2020
Cell-based analysis of CAD variants identifies individuals likely to benefit from uridine therapyFrancisco Del Caño-Ochoa, Bobby G Ng, Malak Abedalthagafi, et al.
Cell|June 13, 2024
A pseudoautosomal glycosylation disorder prompts the revision of dolichol biosynthesisMatthew P Wilson, Takfarinas Kentache, Charlotte R Althoff, et al.
Cell|May 31, 2024
A pseudoautosomal glycosylation disorder prompts the revision of dolichol biosynthesisMatthew P Wilson, Takfarinas Kentache, Charlotte R Althoff, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 15, 2025
Screening rare genetic diagnoses for amenability to bespoke antisense oligonucleotide therapy development: A retrospective cohort studyDavid Cheerie, Marlen C Lauffer, Logan Newton, et al.
BMJ Open|August 10, 2025
TRIAGE-GS: protocol for a randomised controlled trial of a genomics-first approach to rare disease diagnosis for patients awaiting assessment by a clinical geneticistKaitlin J Stanley, Caitlin Chisholm, Meredith K Gillespie, et al.
Frontiers in Molecular Neuroscience|March 3, 2020
Expanding Clinical Presentations Due to Variations in THOC2 mRNA Nuclear Export FactorRaman Kumar, Elizabeth Palmer, Alison E Gardner, et al.
JAMA Network Open|September 22, 2020
Genome Sequencing as a Diagnostic Test in Children With Unexplained Medical ComplexityGregory Costain, Susan Walker, Maria Marano, et al.
NPJ Genomic Medicine|February 27, 2025
International Precision Child Health Partnership (IPCHiP): an initiative to accelerate discovery and improve outcomes in rare pediatric diseaseKatherine B Howell, Susan M White, Amy McTague, et al.
JAMA Neurology|May 4, 2026
Precision Antisense Oligonucleotide Therapy Amenability for Infantile Genetic EpilepsiesEmma Sherrill, David Cheerie, Cara J Beck, et al.
Pageof 15