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

Gregory Costain

Showing results (81-90 of 144) with videos related to

Pageof 15
Sort By:
HGG Advances|April 25, 2024
A systematic assessment of the impact of rare canonical splice site variants on splicing using functional and in silico methodsRachel Y Oh, Ali AlMail, David Cheerie, et al.
Journal of Neurodevelopmental Disorders|February 9, 2019
Rare copy number variations affecting the synaptic gene DMXL2 in neurodevelopmental disordersGregory Costain, Susan Walker, Bob Argiropoulos, et al.
American Journal of Medical Genetics. Part A|June 23, 2021
Genome sequencing for detection of pathogenic deep intronic variation: A clinical case report illustrating opportunities and challengesSusan Walker, Sylvia Lamoureux, Tayyaba Khan, et al.
Pediatric Research|September 27, 2022
Pharmacogenetic profiling via genome sequencing in children with medical complexityAmy Pan, Sierra Scodellaro, Tayyaba Khan, et al.
Molecular Psychiatry|May 13, 2022
Genome-wide tandem repeat expansions contribute to schizophrenia riskBahareh A Mojarad, Worrawat Engchuan, Brett Trost, et al.
JAMA Neurology|March 7, 2022
Multicenter Consensus Approach to Evaluation of Neonatal Hypotonia in the Genomic Era: A ReviewSarah U Morton, John Christodoulou, Gregory Costain, et al.
Neurology|December 19, 2024
Exome and Genome Sequencing to Diagnose the Genetic Basis of Neonatal Hypotonia: An International Consortium StudySarah U Morton, Gregory Costain, Courtney E French, et al.
American Journal of Respiratory and Critical Care Medicine|January 13, 2022
Hereditary Mucin Deficiency Caused by Biallelic Loss of Function of <i>MUC5B</i>Gregory Costain, Zhen Liu, Vito Mennella, et al.
American Journal of Human Genetics|March 29, 2023
Trio RNA sequencing in a cohort of medically complex childrenAshish R Deshwar, Kyoko E Yuki, Huayun Hou, et al.
European Journal of Human Genetics : EJHG|February 18, 2018
Periodic reanalysis of whole-genome sequencing data enhances the diagnostic advantage over standard clinical genetic testingGregory Costain, Rebekah Jobling, Susan Walker, et al.
Pageof 15

Showing results (81-90 of 144) with videos related to

Sort By:
Pageof 15
HGG Advances|April 25, 2024
A systematic assessment of the impact of rare canonical splice site variants on splicing using functional and in silico methodsRachel Y Oh, Ali AlMail, David Cheerie, et al.
Journal of Neurodevelopmental Disorders|February 9, 2019
Rare copy number variations affecting the synaptic gene DMXL2 in neurodevelopmental disordersGregory Costain, Susan Walker, Bob Argiropoulos, et al.
American Journal of Medical Genetics. Part A|June 23, 2021
Genome sequencing for detection of pathogenic deep intronic variation: A clinical case report illustrating opportunities and challengesSusan Walker, Sylvia Lamoureux, Tayyaba Khan, et al.
Pediatric Research|September 27, 2022
Pharmacogenetic profiling via genome sequencing in children with medical complexityAmy Pan, Sierra Scodellaro, Tayyaba Khan, et al.
Molecular Psychiatry|May 13, 2022
Genome-wide tandem repeat expansions contribute to schizophrenia riskBahareh A Mojarad, Worrawat Engchuan, Brett Trost, et al.
JAMA Neurology|March 7, 2022
Multicenter Consensus Approach to Evaluation of Neonatal Hypotonia in the Genomic Era: A ReviewSarah U Morton, John Christodoulou, Gregory Costain, et al.
Neurology|December 19, 2024
Exome and Genome Sequencing to Diagnose the Genetic Basis of Neonatal Hypotonia: An International Consortium StudySarah U Morton, Gregory Costain, Courtney E French, et al.
American Journal of Respiratory and Critical Care Medicine|January 13, 2022
Hereditary Mucin Deficiency Caused by Biallelic Loss of Function of <i>MUC5B</i>Gregory Costain, Zhen Liu, Vito Mennella, et al.
American Journal of Human Genetics|March 29, 2023
Trio RNA sequencing in a cohort of medically complex childrenAshish R Deshwar, Kyoko E Yuki, Huayun Hou, et al.
European Journal of Human Genetics : EJHG|February 18, 2018
Periodic reanalysis of whole-genome sequencing data enhances the diagnostic advantage over standard clinical genetic testingGregory Costain, Rebekah Jobling, Susan Walker, et al.
Pageof 15