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

Jonathan Stephens

Showing results (21-30 of 48) with videos related to

Pageof 5
Sort By:
Genome Medicine|December 12, 2018
Complex structural variants in Mendelian disorders: identification and breakpoint resolution using short- and long-read genome sequencingAlba Sanchis-Juan, Jonathan Stephens, Courtney E French, et al.
Blood|May 12, 2009
A functional genomics approach reveals novel quantitative trait loci associated with platelet signaling pathwaysChris I Jones, Sarah Bray, Stephen F Garner, et al.
Haematologica|April 18, 2020
Identification of a homozygous recessive variant in <i>PTGS1</i> resulting in a congenital aspirin-like defect in platelet functionMelissa V Chan, Melissa A Hayman, Suthesh Sivapalaratnam, et al.
Blood|September 14, 2010
Transcription profiling in human platelets reveals LRRFIP1 as a novel protein regulating platelet functionAlison H Goodall, Philippa Burns, Isabelle Salles, et al.
Plos One|January 10, 2013
Powerful identification of cis-regulatory SNPs in human primary monocytes using allele-specific gene expressionJonas Carlsson Almlöf, Per Lundmark, Anders Lundmark, et al.
Blood|February 18, 2009
A novel variant on chromosome 7q22.3 associated with mean platelet volume, counts, and functionNicole Soranzo, Augusto Rendon, Christian Gieger, et al.
American Journal of Human Genetics|August 4, 2023
Genome sequencing and comprehensive rare-variant analysis of 465 families with neurodevelopmental disordersAlba Sanchis-Juan, Karyn Megy, Jonathan Stephens, et al.
The Journal of Allergy and Clinical Immunology|February 26, 2018
Loss-of-function nuclear factor κB subunit 1 (NFKB1) variants are the most common monogenic cause of common variable immunodeficiency in EuropeansPaul Tuijnenburg, Hana Lango Allen, Siobhan O Burns, et al.
Blood|June 11, 2025
Array Genotyping of Transfusion Relevant Blood Cell Antigens in 6946 Ancestrally Diverse SubjectsNicholas S Gleadall, Lianne Koets, Olga Shamardina, et al.
American Journal of Human Genetics|January 3, 2017
Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal DiseaseKeren J Carss, Gavin Arno, Marie Erwood, et al.
Pageof 5

Showing results (21-30 of 48) with videos related to

Sort By:
Pageof 5
Genome Medicine|December 12, 2018
Complex structural variants in Mendelian disorders: identification and breakpoint resolution using short- and long-read genome sequencingAlba Sanchis-Juan, Jonathan Stephens, Courtney E French, et al.
Blood|May 12, 2009
A functional genomics approach reveals novel quantitative trait loci associated with platelet signaling pathwaysChris I Jones, Sarah Bray, Stephen F Garner, et al.
Haematologica|April 18, 2020
Identification of a homozygous recessive variant in <i>PTGS1</i> resulting in a congenital aspirin-like defect in platelet functionMelissa V Chan, Melissa A Hayman, Suthesh Sivapalaratnam, et al.
Blood|September 14, 2010
Transcription profiling in human platelets reveals LRRFIP1 as a novel protein regulating platelet functionAlison H Goodall, Philippa Burns, Isabelle Salles, et al.
Plos One|January 10, 2013
Powerful identification of cis-regulatory SNPs in human primary monocytes using allele-specific gene expressionJonas Carlsson Almlöf, Per Lundmark, Anders Lundmark, et al.
Blood|February 18, 2009
A novel variant on chromosome 7q22.3 associated with mean platelet volume, counts, and functionNicole Soranzo, Augusto Rendon, Christian Gieger, et al.
American Journal of Human Genetics|August 4, 2023
Genome sequencing and comprehensive rare-variant analysis of 465 families with neurodevelopmental disordersAlba Sanchis-Juan, Karyn Megy, Jonathan Stephens, et al.
The Journal of Allergy and Clinical Immunology|February 26, 2018
Loss-of-function nuclear factor κB subunit 1 (NFKB1) variants are the most common monogenic cause of common variable immunodeficiency in EuropeansPaul Tuijnenburg, Hana Lango Allen, Siobhan O Burns, et al.
Blood|June 11, 2025
Array Genotyping of Transfusion Relevant Blood Cell Antigens in 6946 Ancestrally Diverse SubjectsNicholas S Gleadall, Lianne Koets, Olga Shamardina, et al.
American Journal of Human Genetics|January 3, 2017
Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal DiseaseKeren J Carss, Gavin Arno, Marie Erwood, et al.
Pageof 5