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

Philip M Boone

Showing results (21-30 of 42) with videos related to

Pageof 5
Sort By:
Human Molecular Genetics|August 2, 2014
Analysis of the ABCA4 genomic locus in Stargardt diseaseJana Zernant, Yajing Angela Xie, Carmen Ayuso, et al.
American Journal of Human Genetics|November 9, 2024
Resolution of ring chromosomes, Robertsonian translocations, and complex structural variants from long-read sequencing and telomere-to-telomere assemblyYulia Mostovoy, Philip M Boone, Yongqing Huang, et al.
Arxiv|January 30, 2023
Beyond the exome: what's next in diagnostic testing for Mendelian conditionsMonica H Wojcik, Chloe M Reuter, Shruti Marwaha, et al.
American Journal of Human Genetics|August 4, 2023
Beyond the exome: What's next in diagnostic testing for Mendelian conditionsMonica H Wojcik, Chloe M Reuter, Shruti Marwaha, et al.
American Journal of Human Genetics|July 29, 2014
The Alu-rich genomic architecture of SPAST predisposes to diverse and functionally distinct disease-associated CNV allelesPhilip M Boone, Bo Yuan, Ian M Campbell, et al.
European Journal of Human Genetics : EJHG|May 24, 2012
Phenotypic spectrum and genotype-phenotype correlations of NRXN1 exon deletionsChristian P Schaaf, Philip M Boone, Srirangan Sampath, et al.
European Journal of Human Genetics : EJHG|January 10, 2019
Genetic architecture of laterality defects revealed by whole exome sequencingAlexander H Li, Neil A Hanchard, Mahshid Azamian, et al.
Human Molecular Genetics|May 27, 2025
KDM2B variants in the CxxC domain impair its DNA-binding ability and cause a distinct neurodevelopmental syndromeAmber S E van Oirsouw, Michael A Hadders, Martijn Koetsier, et al.
Human Mutation|September 18, 2010
Detection of clinically relevant exonic copy-number changes by array CGHPhilip M Boone, Carlos A Bacino, Chad A Shaw, et al.
NPJ Genomic Medicine|December 2, 2024
Hospital-wide access to genomic data advanced pediatric rare disease research and clinical outcomesCourtney E French, Nancy C Andrews, Alan H Beggs, et al.
Pageof 5

Showing results (21-30 of 42) with videos related to

Sort By:
Pageof 5
Human Molecular Genetics|August 2, 2014
Analysis of the ABCA4 genomic locus in Stargardt diseaseJana Zernant, Yajing Angela Xie, Carmen Ayuso, et al.
American Journal of Human Genetics|November 9, 2024
Resolution of ring chromosomes, Robertsonian translocations, and complex structural variants from long-read sequencing and telomere-to-telomere assemblyYulia Mostovoy, Philip M Boone, Yongqing Huang, et al.
Arxiv|January 30, 2023
Beyond the exome: what's next in diagnostic testing for Mendelian conditionsMonica H Wojcik, Chloe M Reuter, Shruti Marwaha, et al.
American Journal of Human Genetics|August 4, 2023
Beyond the exome: What's next in diagnostic testing for Mendelian conditionsMonica H Wojcik, Chloe M Reuter, Shruti Marwaha, et al.
American Journal of Human Genetics|July 29, 2014
The Alu-rich genomic architecture of SPAST predisposes to diverse and functionally distinct disease-associated CNV allelesPhilip M Boone, Bo Yuan, Ian M Campbell, et al.
European Journal of Human Genetics : EJHG|May 24, 2012
Phenotypic spectrum and genotype-phenotype correlations of NRXN1 exon deletionsChristian P Schaaf, Philip M Boone, Srirangan Sampath, et al.
European Journal of Human Genetics : EJHG|January 10, 2019
Genetic architecture of laterality defects revealed by whole exome sequencingAlexander H Li, Neil A Hanchard, Mahshid Azamian, et al.
Human Molecular Genetics|May 27, 2025
KDM2B variants in the CxxC domain impair its DNA-binding ability and cause a distinct neurodevelopmental syndromeAmber S E van Oirsouw, Michael A Hadders, Martijn Koetsier, et al.
Human Mutation|September 18, 2010
Detection of clinically relevant exonic copy-number changes by array CGHPhilip M Boone, Carlos A Bacino, Chad A Shaw, et al.
NPJ Genomic Medicine|December 2, 2024
Hospital-wide access to genomic data advanced pediatric rare disease research and clinical outcomesCourtney E French, Nancy C Andrews, Alan H Beggs, et al.
Pageof 5