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

Sebastian S Gerety

Showing results (11-20 of 21) with videos related to

Pageof 3
Sort By:
Nature Genetics|May 25, 2023
The impact of rare protein coding genetic variation on adult cognitive functionChia-Yen Chen, Ruoyu Tian, Tian Ge, et al.
Nature Communications|December 6, 2023
Saturation genome editing of DDX3X clarifies pathogenicity of germline and somatic variationElizabeth J Radford, Hong-Kee Tan, Malin H L Andersson, et al.
Nature Genetics|July 5, 2024
Saturation genome editing of BAP1 functionally classifies somatic and germline variantsAndrew J Waters, Timothy Brendler-Spaeth, Danielle Smith, et al.
Nature Genetics|December 18, 2019
Loss of ADAMTS19 causes progressive non-syndromic heart valve diseaseFlorian Wünnemann, Asaf Ta-Shma, Christoph Preuss, et al.
Genome Research|December 28, 2018
Pathogenicity and selective constraint on variation near splice sitesJenny Lord, Giuseppe Gallone, Patrick J Short, et al.
Nature Genetics|October 6, 2015
Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 familiesNadia Akawi, Jeremy McRae, Morad Ansari, et al.
American Journal of Human Genetics|September 2, 2017
Rare Variants in NR2F2 Cause Congenital Heart Defects in HumansSaeed Al Turki, Ashok K Manickaraj, Catherine L Mercer, et al.
Science (New York, N.Y.)|November 10, 2018
Quantifying the contribution of recessive coding variation to developmental disordersHilary C Martin, Wendy D Jones, Rebecca McIntyre, et al.
American Journal of Human Genetics|April 8, 2014
Rare variants in NR2F2 cause congenital heart defects in humansSaeed Al Turki, Ashok K Manickaraj, Catherine L Mercer, et al.
Brain : a Journal of Neurology|July 12, 2023
Models of KPTN-related disorder implicate mTOR signalling in cognitive and overgrowth phenotypesMaria O Levitin, Lettie E Rawlins, Gabriela Sanchez-Andrade, et al.
Pageof 3

Showing results (11-20 of 21) with videos related to

Sort By:
Pageof 3
Nature Genetics|May 25, 2023
The impact of rare protein coding genetic variation on adult cognitive functionChia-Yen Chen, Ruoyu Tian, Tian Ge, et al.
Nature Communications|December 6, 2023
Saturation genome editing of DDX3X clarifies pathogenicity of germline and somatic variationElizabeth J Radford, Hong-Kee Tan, Malin H L Andersson, et al.
Nature Genetics|July 5, 2024
Saturation genome editing of BAP1 functionally classifies somatic and germline variantsAndrew J Waters, Timothy Brendler-Spaeth, Danielle Smith, et al.
Nature Genetics|December 18, 2019
Loss of ADAMTS19 causes progressive non-syndromic heart valve diseaseFlorian Wünnemann, Asaf Ta-Shma, Christoph Preuss, et al.
Genome Research|December 28, 2018
Pathogenicity and selective constraint on variation near splice sitesJenny Lord, Giuseppe Gallone, Patrick J Short, et al.
Nature Genetics|October 6, 2015
Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 familiesNadia Akawi, Jeremy McRae, Morad Ansari, et al.
American Journal of Human Genetics|September 2, 2017
Rare Variants in NR2F2 Cause Congenital Heart Defects in HumansSaeed Al Turki, Ashok K Manickaraj, Catherine L Mercer, et al.
Science (New York, N.Y.)|November 10, 2018
Quantifying the contribution of recessive coding variation to developmental disordersHilary C Martin, Wendy D Jones, Rebecca McIntyre, et al.
American Journal of Human Genetics|April 8, 2014
Rare variants in NR2F2 cause congenital heart defects in humansSaeed Al Turki, Ashok K Manickaraj, Catherine L Mercer, et al.
Brain : a Journal of Neurology|July 12, 2023
Models of KPTN-related disorder implicate mTOR signalling in cognitive and overgrowth phenotypesMaria O Levitin, Lettie E Rawlins, Gabriela Sanchez-Andrade, et al.
Pageof 3