Related Experiment Video

Updated: Mar 31, 2026

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
05:53

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

Published on: June 21, 2018

10.8K

New EuroGentest/ESHG guidelines and a new clinical utility gene card format for NGS-based testing

Gert Matthijs1, Anna Dierking2, Jörg Schmidtke2

  • 1Department of Human Genetics, Centre for Human Genetics, KU Leuven, Leuven, Belgium.

European Journal of Human Genetics : EJHG
|October 29, 2015
PubMed
Abstract

No abstract available in PubMed .

More Related Videos

Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform
09:30

Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform

Published on: August 17, 2022

3.6K
Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy
09:03

Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy

Published on: August 25, 2019

10.0K

Related Experiment Videos

Last Updated: Mar 31, 2026

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
05:53

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

Published on: June 21, 2018

10.8K
Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform
09:30

Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform

Published on: August 17, 2022

3.6K
Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy
09:03

Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy

Published on: August 25, 2019

10.0K

Related Concept Videos

Genetic Screens02:46

Genetic Screens

5.9K
Genetic screens are tools used to identify genes and mutations responsible for phenotypes of interest. Genetic screens help identify individuals or a group of people at risk of developing  genetic diseases and help them with early intervention, targeted therapy, and reproductive options.
Forward genetic screens
Forward or “classical” genetic screens involve creating random mutations in an organism’s DNA using radiation, mutagens, or insertion of additional bases, which...
5.9K

Articles linked to this work by shared authors, journal, and citation graph.

Evaluation of The Use of Hydroxyurea in Treating Children With Sickle Cell Anemia in Central Africa's Rural Area.

EJHaem·2026

Mucolipidosis II: novel variants, clinical variation and assessment of HAP1 cells as a disease model.

Human molecular genetics·2026

ATP6AP2-Related Disease Caused by Splicing Defects: Abnormal Glycosylation and the First Affected Female.

Journal of inherited metabolic disease·2025

Age-specific uptake of non-invasive prenatal tests (NIPT) in Germany: a decision theory-based analysis.

Journal of community genetics·2025

Data-driven consideration of genetic disorders for global genomic newborn screening programs.

Genetics in medicine : official journal of the American College of Medical Genetics·2025

Absence of the dolichol synthesis gene DHRSX leads to N-glycosylation defects in Lec5 and Lec9 Chinese hamster ovary cells.

The Journal of biological chemistry·2024

Three-dimensional facial gestalt analysis for three neurodevelopmental disorders: Koolen-de Vries, Jansen-de Vries and KBG syndrome.

European journal of human genetics : EJHG·2026

Appreciating diversity: a review of the Iranian genomic landscape.

European journal of human genetics : EJHG·2026

Prevalence of BRCA1/2 variants in an Ovarian Cancer Cohort: outcomes from a Nationwide Testing Program.

European journal of human genetics : EJHG·2026

Utility of Face2Gene's DeepGestalt and D-Score applications in paediatric neurodevelopmental disorders in South Africa.

European journal of human genetics : EJHG·2026

Why is family disclosure of genetic risk so difficult? A collaborative analysis of 685 rare-disease patient experiences.

European journal of human genetics : EJHG·2026

Genome sequencing reveals high diagnostic yield in children with severe sporadic developmental language disorder.

European journal of human genetics : EJHG·2026

Contribution of Real-World Evidence for the Orphan Medicines Approvals in the European Union Between 2000 and 2025.

Therapeutic innovation & regulatory science·2026

Ethanol Pharmacokinetics and Alcohol-Related Effects after One-Anastomosis Gastric Bypass: A Prospective Before-After Study.

Obesity facts·2026

Online Casino Legalization and Onsite Casino Revenue: Evidence from Early Adopters in the United States.

Journal of gambling studies·2026

Multiply robust inference of average treatment effects by high-dimensional empirical likelihood.

Biometrics·2026

Textbook outcomes as a composite quality metric following fenestrated-branched endovascular aortic repair.

Journal of vascular surgery·2026

FoME: A foundation model for EEG using adaptive temporal-lateral attention scaling.

Computerized medical imaging and graphics : the official journal of the Computerized Medical Imaging Society·2026
See all related articles
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
Jove
Visualize
Contact Us