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Caroline F Wright

Showing results (61-70 of 128) with videos related to

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The Onderstepoort Journal of Veterinary Research|January 19, 2013
New technologies to diagnose and monitor infectious diseases of livestock: challenges for sub-Saharan AfricaDonald P King, Miki Madi, Valerie Mioulet, et al.
Diabetes|February 2, 2022
Evaluation of Evidence for Pathogenicity Demonstrates That BLK, KLF11, and PAX4 Should Not Be Included in Diagnostic Testing for MODYThomas W Laver, Matthew N Wakeling, Olivia Knox, et al.
American Journal of Human Genetics|June 24, 2020
Large Copy-Number Variants in UK Biobank Caused by Clonal Hematopoiesis May Confound Penetrance EstimatesMarcus Tuke, Jessica Tyrrell, Katherine S Ruth, et al.
Human Molecular Genetics|January 8, 2016
Integrating population variation and protein structural analysis to improve clinical interpretation of missense variation: application to the WD40 domainRoman A Laskowski, Nidhi Tyagi, Diana Johnson, et al.
Viruses|April 14, 2018
Full Genome Sequencing Reveals New Southern African Territories Genotypes Bringing Us Closer to Understanding True Variability of Foot-and-Mouth Disease Virus in AfricaLidia Lasecka-Dykes, Caroline F Wright, Antonello Di Nardo, et al.
Scientific Reports|April 15, 2024
Investigating the role of common cis-regulatory variants in modifying penetrance of putatively damaging, inherited variants in severe neurodevelopmental disordersEmilie M Wigdor, Kaitlin E Samocha, Ruth Y Eberhardt, et al.
Genetics in Medicine Open|December 13, 2024
Detection and characterization of copy-number variants from exome sequencing in the DDD studyPetr Danecek, Eugene J Gardner, Tomas W Fitzgerald, et al.
Human Mutation|July 30, 2015
Facilitating collaboration in rare genetic disorders through effective matchmaking in DECIPHEREleni A Chatzimichali, Simon Brent, Benjamin Hutton, et al.
European Journal of Human Genetics : EJHG|May 12, 2026
Reduced penetrance of COL1A1/2 pathogenic variants linked with osteogenesis imperfecta: analysis of a large population cohortAlistair T Pagnamenta, James Fasham, Robin N Beaumont, et al.
Genome Medicine|November 7, 2024
Curating genomic disease-gene relationships with Gene2Phenotype (G2P)T Michael Yates, Morad Ansari, Louise Thompson, et al.
Pageof 13

Showing results (61-70 of 128) with videos related to

Sort By:
Pageof 13
The Onderstepoort Journal of Veterinary Research|January 19, 2013
New technologies to diagnose and monitor infectious diseases of livestock: challenges for sub-Saharan AfricaDonald P King, Miki Madi, Valerie Mioulet, et al.
Diabetes|February 2, 2022
Evaluation of Evidence for Pathogenicity Demonstrates That BLK, KLF11, and PAX4 Should Not Be Included in Diagnostic Testing for MODYThomas W Laver, Matthew N Wakeling, Olivia Knox, et al.
American Journal of Human Genetics|June 24, 2020
Large Copy-Number Variants in UK Biobank Caused by Clonal Hematopoiesis May Confound Penetrance EstimatesMarcus Tuke, Jessica Tyrrell, Katherine S Ruth, et al.
Human Molecular Genetics|January 8, 2016
Integrating population variation and protein structural analysis to improve clinical interpretation of missense variation: application to the WD40 domainRoman A Laskowski, Nidhi Tyagi, Diana Johnson, et al.
Viruses|April 14, 2018
Full Genome Sequencing Reveals New Southern African Territories Genotypes Bringing Us Closer to Understanding True Variability of Foot-and-Mouth Disease Virus in AfricaLidia Lasecka-Dykes, Caroline F Wright, Antonello Di Nardo, et al.
Scientific Reports|April 15, 2024
Investigating the role of common cis-regulatory variants in modifying penetrance of putatively damaging, inherited variants in severe neurodevelopmental disordersEmilie M Wigdor, Kaitlin E Samocha, Ruth Y Eberhardt, et al.
Genetics in Medicine Open|December 13, 2024
Detection and characterization of copy-number variants from exome sequencing in the DDD studyPetr Danecek, Eugene J Gardner, Tomas W Fitzgerald, et al.
Human Mutation|July 30, 2015
Facilitating collaboration in rare genetic disorders through effective matchmaking in DECIPHEREleni A Chatzimichali, Simon Brent, Benjamin Hutton, et al.
European Journal of Human Genetics : EJHG|May 12, 2026
Reduced penetrance of COL1A1/2 pathogenic variants linked with osteogenesis imperfecta: analysis of a large population cohortAlistair T Pagnamenta, James Fasham, Robin N Beaumont, et al.
Genome Medicine|November 7, 2024
Curating genomic disease-gene relationships with Gene2Phenotype (G2P)T Michael Yates, Morad Ansari, Louise Thompson, et al.
Pageof 13