Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Filters

David H Ledbetter

Showing results (41-50 of 125) with videos related to

Pageof 13
Sort By:
Proceedings of the National Academy of Sciences of the United States of America|May 19, 2025
X and Y gene dosage effects are primary contributors to human sexual dimorphism: The case of heightAlexander S F Berry, Brenda M Finucane, Scott M Myers, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|February 12, 2021
Leveraging population-based exome screening to impact clinical care: The evolution of variant assessment in the Geisinger MyCode research projectMelissa A Kelly, Joseph B Leader, Karen E Wain, et al.
European Journal of Human Genetics : EJHG|June 13, 2013
AP1S2 is mutated in X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (Pettigrew syndrome)Pierre Cacciagli, Jean-Pierre Desvignes, Nadine Girard, et al.
JAMA|January 17, 2023
Association of Supernumerary Sex Chromosome Aneuploidies With Venous ThromboembolismAlexander S F Berry, Brenda M Finucane, Scott M Myers, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 23, 2008
Enhanced detection of clinically relevant genomic imbalances using a targeted plus whole genome oligonucleotide microarrayErin L Baldwin, Ji-Yun Lee, Douglas M Blake, et al.
Journal of Personalized Medicine|June 2, 2021
Population Genomic Screening for Genetic Etiologies of Neurodevelopmental/Psychiatric Disorders Demonstrates Personal Utility and Positive Participant ResponsesKaren E Wain, Kasia Tolwinski, Emily Palen, et al.
The American Journal of Psychiatry|December 7, 2022
Prevalence and Penetrance of Rare Pathogenic Variants in Neurodevelopmental Psychiatric Genes in a Health Care System PopulationHermela Shimelis, Matthew T Oetjens, Lauren K Walsh, et al.
American Journal of Medical Genetics|February 22, 2002
Mutation screening and transmission disequilibrium study of ATP10C in autismSoo-Jeong Kim, Laura B K Herzing, Jeremy Veenstra-VanderWeele, et al.
Nature Communications|October 15, 2024
A genome-first study of sex chromosome aneuploidies provides evidence of Y chromosome dosage effects on autism riskAlexander S F Berry, Brenda M Finucane, Scott M Myers, et al.
Human Mutation|July 17, 2015
GenomeConnect: matchmaking between patients, clinical laboratories, and researchers to improve genomic knowledgeBrianne E Kirkpatrick, Erin Rooney Riggs, Danielle R Azzariti, et al.
Pageof 13

Showing results (41-50 of 125) with videos related to

Sort By:
Pageof 13
Proceedings of the National Academy of Sciences of the United States of America|May 19, 2025
X and Y gene dosage effects are primary contributors to human sexual dimorphism: The case of heightAlexander S F Berry, Brenda M Finucane, Scott M Myers, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|February 12, 2021
Leveraging population-based exome screening to impact clinical care: The evolution of variant assessment in the Geisinger MyCode research projectMelissa A Kelly, Joseph B Leader, Karen E Wain, et al.
European Journal of Human Genetics : EJHG|June 13, 2013
AP1S2 is mutated in X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (Pettigrew syndrome)Pierre Cacciagli, Jean-Pierre Desvignes, Nadine Girard, et al.
JAMA|January 17, 2023
Association of Supernumerary Sex Chromosome Aneuploidies With Venous ThromboembolismAlexander S F Berry, Brenda M Finucane, Scott M Myers, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 23, 2008
Enhanced detection of clinically relevant genomic imbalances using a targeted plus whole genome oligonucleotide microarrayErin L Baldwin, Ji-Yun Lee, Douglas M Blake, et al.
Journal of Personalized Medicine|June 2, 2021
Population Genomic Screening for Genetic Etiologies of Neurodevelopmental/Psychiatric Disorders Demonstrates Personal Utility and Positive Participant ResponsesKaren E Wain, Kasia Tolwinski, Emily Palen, et al.
The American Journal of Psychiatry|December 7, 2022
Prevalence and Penetrance of Rare Pathogenic Variants in Neurodevelopmental Psychiatric Genes in a Health Care System PopulationHermela Shimelis, Matthew T Oetjens, Lauren K Walsh, et al.
American Journal of Medical Genetics|February 22, 2002
Mutation screening and transmission disequilibrium study of ATP10C in autismSoo-Jeong Kim, Laura B K Herzing, Jeremy Veenstra-VanderWeele, et al.
Nature Communications|October 15, 2024
A genome-first study of sex chromosome aneuploidies provides evidence of Y chromosome dosage effects on autism riskAlexander S F Berry, Brenda M Finucane, Scott M Myers, et al.
Human Mutation|July 17, 2015
GenomeConnect: matchmaking between patients, clinical laboratories, and researchers to improve genomic knowledgeBrianne E Kirkpatrick, Erin Rooney Riggs, Danielle R Azzariti, et al.
Pageof 13