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Susan M White

Showing results (31-40 of 160) with videos related to

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Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 27, 2017
Prospective comparison of the cost-effectiveness of clinical whole-exome sequencing with that of usual care overwhelmingly supports early use and reimbursementZornitza Stark, Deborah Schofield, Khurshid Alam, et al.
European Journal of Human Genetics : EJHG|November 26, 2024
Assessing the unmet needs of genomic testing in Australia: a geospatial explorationSarah Casauria, Felicity Collins, Susan M White, et al.
European Journal of Human Genetics : EJHG|February 18, 2018
Exome sequencing has higher diagnostic yield compared to simulated disease-specific panels in children with suspected monogenic disordersOliver James Dillon, Sebastian Lunke, Zornitza Stark, et al.
Clinical Case Reports|January 2, 2020
Whole exome sequencing reveals a de novo missense variant in <i>EEF1A2</i> in a Rett syndrome-like patientSimranpreet Kaur, Nicole J Van Bergen, Wendy Anne Gold, et al.
BMC Nephrology|August 24, 2019
Isolated proteinuria due to CUBN homozygous mutation - challenging the investigative paradigmKushani Jayasinghe, Susan M White, Peter G Kerr, et al.
European Journal of Medical Genetics|September 17, 2025
ARID1A gene variants and fetal hydrocephalus: First evidence of mRNA decay escapeYuya Tanaka, Mamiko Yamada, Fuyuki Miya, et al.
Journal of Paediatrics and Child Health|February 14, 2019
Diagnostic and service impact of genomic testing technologies in a neonatal intensive care unitNatalie B Tan, Tiong Yang Tan, Melissa M Martyn, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|May 15, 2020
Rapid Diagnosis of Spinocerebellar Ataxia 36 in a Three-Generation Family Using Short-Read Whole-Genome Sequencing DataHaloom Rafehi, David J Szmulewicz, Kate Pope, et al.
Familial Cancer|February 27, 2007
An individual with Muir-Torre syndrome found to have a pathogenic MSH6 gene mutationAngela Arnold, Stewart Payne, Samantha Fisher, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 17, 2018
Does genomic sequencing early in the diagnostic trajectory make a difference? A follow-up study of clinical outcomes and cost-effectivenessZornitza Stark, Deborah Schofield, Melissa Martyn, et al.
Pageof 16

Showing results (31-40 of 160) with videos related to

Sort By:
Pageof 16
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 27, 2017
Prospective comparison of the cost-effectiveness of clinical whole-exome sequencing with that of usual care overwhelmingly supports early use and reimbursementZornitza Stark, Deborah Schofield, Khurshid Alam, et al.
European Journal of Human Genetics : EJHG|November 26, 2024
Assessing the unmet needs of genomic testing in Australia: a geospatial explorationSarah Casauria, Felicity Collins, Susan M White, et al.
European Journal of Human Genetics : EJHG|February 18, 2018
Exome sequencing has higher diagnostic yield compared to simulated disease-specific panels in children with suspected monogenic disordersOliver James Dillon, Sebastian Lunke, Zornitza Stark, et al.
Clinical Case Reports|January 2, 2020
Whole exome sequencing reveals a de novo missense variant in <i>EEF1A2</i> in a Rett syndrome-like patientSimranpreet Kaur, Nicole J Van Bergen, Wendy Anne Gold, et al.
BMC Nephrology|August 24, 2019
Isolated proteinuria due to CUBN homozygous mutation - challenging the investigative paradigmKushani Jayasinghe, Susan M White, Peter G Kerr, et al.
European Journal of Medical Genetics|September 17, 2025
ARID1A gene variants and fetal hydrocephalus: First evidence of mRNA decay escapeYuya Tanaka, Mamiko Yamada, Fuyuki Miya, et al.
Journal of Paediatrics and Child Health|February 14, 2019
Diagnostic and service impact of genomic testing technologies in a neonatal intensive care unitNatalie B Tan, Tiong Yang Tan, Melissa M Martyn, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|May 15, 2020
Rapid Diagnosis of Spinocerebellar Ataxia 36 in a Three-Generation Family Using Short-Read Whole-Genome Sequencing DataHaloom Rafehi, David J Szmulewicz, Kate Pope, et al.
Familial Cancer|February 27, 2007
An individual with Muir-Torre syndrome found to have a pathogenic MSH6 gene mutationAngela Arnold, Stewart Payne, Samantha Fisher, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 17, 2018
Does genomic sequencing early in the diagnostic trajectory make a difference? A follow-up study of clinical outcomes and cost-effectivenessZornitza Stark, Deborah Schofield, Melissa Martyn, et al.
Pageof 16