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

Benjamin M Helm

Showing results (51-60 of 61) with videos related to

Pageof 7
Sort By:
Cold Spring Harbor Molecular Case Studies|November 28, 2022
Characterization of a novel deep-intronic variant in <i>DYNC2H1</i> identified by whole-exome sequencing in a patient with a lethal form of a short-rib thoracic dysplasia type IIIMuqsit Buchh, Patrick J Gillespie, Kayla Treat, et al.
Research Square|April 2, 2024
Rapid Genome Sequencing Shows Diagnostic Utility In Infants With Congenital Heart DefectsMatthew D Durbin, Lindsey R Helvaty, Alyx Posorske, et al.
Circulation. Genomic and Precision Medicine|April 10, 2026
Rapid Genome Sequencing Shows Diagnostic Utility in Infants With Congenital Heart DefectsMatthew D Durbin, Lindsey R Helvaty, Alyx Posorske, et al.
Journal of Genetic Counseling|September 12, 2021
Genetic counseling for congenital heart disease - Practice resource of the National Society of Genetic CounselorsHannah E Ison, Emily L Griffin, Ashley Parrott, et al.
American Journal of Medical Genetics. Part A|April 30, 2015
Clinical management of patients with ASXL1 mutations and Bohring-Opitz syndrome, emphasizing the need for Wilms tumor surveillanceBianca Russell, Jennifer J Johnston, Leslie G Biesecker, et al.
Genetics in Medicine Open|December 13, 2024
A multicenter cross-sectional study in infants with congenital heart defects demonstrates high diagnostic yield of genetic testing but variable evaluation practicesMatthew D Durbin, Lindsey R Helvaty, Ming Li, et al.
Medrxiv : the Preprint Server for Health Sciences|November 19, 2025
Cardiovascular genetic counseling is associated with improved patient-reported outcomes across clinical indications and settingsBrittney Murray, Catherine Gordon, Susan Christian, et al.
Medrxiv : the Preprint Server for Health Sciences|October 9, 2023
Heterozygous loss-of-function <i>SMC3</i> variants are associated with variable and incompletely penetrant growth and developmental featuresMorad Ansari, Kamli N W Faour, Akiko Shimamura, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 14, 2022
Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded proteinElke de Boer, Charlotte W Ockeloen, Rosalie A Kampen, et al.
HGG Advances|February 1, 2024
Heterozygous loss-of-function SMC3 variants are associated with variable growth and developmental featuresMorad Ansari, Kamli N W Faour, Akiko Shimamura, et al.
Pageof 7

Showing results (51-60 of 61) with videos related to

Sort By:
Pageof 7
Cold Spring Harbor Molecular Case Studies|November 28, 2022
Characterization of a novel deep-intronic variant in <i>DYNC2H1</i> identified by whole-exome sequencing in a patient with a lethal form of a short-rib thoracic dysplasia type IIIMuqsit Buchh, Patrick J Gillespie, Kayla Treat, et al.
Research Square|April 2, 2024
Rapid Genome Sequencing Shows Diagnostic Utility In Infants With Congenital Heart DefectsMatthew D Durbin, Lindsey R Helvaty, Alyx Posorske, et al.
Circulation. Genomic and Precision Medicine|April 10, 2026
Rapid Genome Sequencing Shows Diagnostic Utility in Infants With Congenital Heart DefectsMatthew D Durbin, Lindsey R Helvaty, Alyx Posorske, et al.
Journal of Genetic Counseling|September 12, 2021
Genetic counseling for congenital heart disease - Practice resource of the National Society of Genetic CounselorsHannah E Ison, Emily L Griffin, Ashley Parrott, et al.
American Journal of Medical Genetics. Part A|April 30, 2015
Clinical management of patients with ASXL1 mutations and Bohring-Opitz syndrome, emphasizing the need for Wilms tumor surveillanceBianca Russell, Jennifer J Johnston, Leslie G Biesecker, et al.
Genetics in Medicine Open|December 13, 2024
A multicenter cross-sectional study in infants with congenital heart defects demonstrates high diagnostic yield of genetic testing but variable evaluation practicesMatthew D Durbin, Lindsey R Helvaty, Ming Li, et al.
Medrxiv : the Preprint Server for Health Sciences|November 19, 2025
Cardiovascular genetic counseling is associated with improved patient-reported outcomes across clinical indications and settingsBrittney Murray, Catherine Gordon, Susan Christian, et al.
Medrxiv : the Preprint Server for Health Sciences|October 9, 2023
Heterozygous loss-of-function <i>SMC3</i> variants are associated with variable and incompletely penetrant growth and developmental featuresMorad Ansari, Kamli N W Faour, Akiko Shimamura, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 14, 2022
Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded proteinElke de Boer, Charlotte W Ockeloen, Rosalie A Kampen, et al.
HGG Advances|February 1, 2024
Heterozygous loss-of-function SMC3 variants are associated with variable growth and developmental featuresMorad Ansari, Kamli N W Faour, Akiko Shimamura, et al.
Pageof 7