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Caroline F Wright

Showing results (31-40 of 128) with videos related to

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BMJ (Clinical Research Ed.)|October 18, 2019
Direct-to-consumer genetic testingRachel Horton, Gillian Crawford, Lindsey Freeman, et al.
Genome Medicine|July 22, 2022
Assessing the clinical utility of protein structural analysis in genomic variant classification: experiences from a diagnostic laboratoryRichard C Caswell, Adam C Gunning, Martina M Owens, et al.
Journal of the Endocrine Society|November 19, 2019
Using Structural Analysis <i>In Silico</i> to Assess the Impact of Missense Variants in MEN1Richard C Caswell, Martina M Owens, Adam C Gunning, et al.
American Journal of Human Genetics|October 1, 2024
Phenotypic spectrum of dual diagnoses in developmental disordersAlys M Ridsdale, Anna Dickerson, V Kartik Chundru, et al.
Nature Genetics|April 18, 2024
Genetic modifiers of rare variants in monogenic developmental disorder lociRebecca Kingdom, Robin N Beaumont, Andrew R Wood, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 28, 2022
Importance of adopting standardized MANE transcripts in clinical reportingCaroline F Wright, David R FitzPatrick, James S Ware, et al.
Genetics in Medicine Open|September 30, 2024
Detection of mosaic chromosomal alterations in children with severe developmental disorders recruited to the DDD studyRuth Y Eberhardt, Caroline F Wright, David R FitzPatrick, et al.
HGG Advances|December 23, 2022
IMPROVE-DD: Integrating multiple phenotype resources optimizes variant evaluation in genetically determined developmental disordersStuart Aitken, Helen V Firth, Caroline F Wright, et al.
BMJ (Clinical Research Ed.)|March 5, 2024
Challenges of using whole genome sequencing in population newborn screeningRachel Horton, Caroline F Wright, Helen V Firth, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 5, 2020
Evaluating variants classified as pathogenic in ClinVar in the DDD StudyCaroline F Wright, Ruth Y Eberhardt, Panayiotis Constantinou, et al.
Pageof 13

Showing results (31-40 of 128) with videos related to

Sort By:
Pageof 13
BMJ (Clinical Research Ed.)|October 18, 2019
Direct-to-consumer genetic testingRachel Horton, Gillian Crawford, Lindsey Freeman, et al.
Genome Medicine|July 22, 2022
Assessing the clinical utility of protein structural analysis in genomic variant classification: experiences from a diagnostic laboratoryRichard C Caswell, Adam C Gunning, Martina M Owens, et al.
Journal of the Endocrine Society|November 19, 2019
Using Structural Analysis <i>In Silico</i> to Assess the Impact of Missense Variants in MEN1Richard C Caswell, Martina M Owens, Adam C Gunning, et al.
American Journal of Human Genetics|October 1, 2024
Phenotypic spectrum of dual diagnoses in developmental disordersAlys M Ridsdale, Anna Dickerson, V Kartik Chundru, et al.
Nature Genetics|April 18, 2024
Genetic modifiers of rare variants in monogenic developmental disorder lociRebecca Kingdom, Robin N Beaumont, Andrew R Wood, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 28, 2022
Importance of adopting standardized MANE transcripts in clinical reportingCaroline F Wright, David R FitzPatrick, James S Ware, et al.
Genetics in Medicine Open|September 30, 2024
Detection of mosaic chromosomal alterations in children with severe developmental disorders recruited to the DDD studyRuth Y Eberhardt, Caroline F Wright, David R FitzPatrick, et al.
HGG Advances|December 23, 2022
IMPROVE-DD: Integrating multiple phenotype resources optimizes variant evaluation in genetically determined developmental disordersStuart Aitken, Helen V Firth, Caroline F Wright, et al.
BMJ (Clinical Research Ed.)|March 5, 2024
Challenges of using whole genome sequencing in population newborn screeningRachel Horton, Caroline F Wright, Helen V Firth, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 5, 2020
Evaluating variants classified as pathogenic in ClinVar in the DDD StudyCaroline F Wright, Ruth Y Eberhardt, Panayiotis Constantinou, et al.
Pageof 13