Related Experiment Video

Updated: Jan 3, 2026

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

3.4K

When should genomic and exome sequencing be implemented in newborns? A call for an update to newborn screening

Rachele M Hendricks-Sturrup1, Christine Y Lu2

  • 1Department of Population Medicine, Harvard Pilgrim Health Care Institute and Harvard Medical School, Boston, MA, USA. rachele_hendricks-sturrup@harvardpilgrim.org.

Genetics in Medicine : Official Journal of the American College of Medical Genetics
|November 27, 2019
PubMed
Abstract

No abstract available in PubMed .

More Related Videos

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
05:51

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia

Published on: June 15, 2011

26.3K
A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
08:22

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Published on: December 1, 2017

8.9K

Related Experiment Videos

Last Updated: Jan 3, 2026

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

3.4K
A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
05:51

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia

Published on: June 15, 2011

26.3K
A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
08:22

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Published on: December 1, 2017

8.9K

Related Concept Videos

Pharmacokinetics in Pediatric Patients: Drug Excretion01:26

Pharmacokinetics in Pediatric Patients: Drug Excretion

177
In pediatric medicine, understanding the renal function and drug elimination nuances is crucial for administering safe and effective treatments. Newborns, in particular, display markedly slower renal functions than adults, profoundly affecting how drugs are cleared from their bodies. This slower drug clearance requires clinicians to extend the dosing intervals for many medications to prevent drug accumulation and toxicity while ensuring therapeutic efficacy.One key area where these adjustments...
177
Next-generation Sequencing03:00

Next-generation Sequencing

97.4K
The first human genome sequencing project cost $2.7 billion and was declared complete in 2003, after 15 years of international cooperation and collaboration between several research teams and funding agencies. Today, with the advent of next-generation sequencing technologies, the cost and time of sequencing a human genome have dropped over 100 fold.
Next-Generation Sequencing Methods
Although all next-generation methods use different technologies, they all share a set of standard features....
97.4K

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

Machine learning prediction of 30-day mortality in coronary artery disease: a retrospective multicenter study using electronic health records.

International journal of cardiology·2026

The financial burden of cancer: A longitudinal analysis of out-of-pocket healthcare costs in Australia (2009-2021).

Supportive care in cancer : official journal of the Multinational Association of Supportive Care in Cancer·2026

Regulatory harmonization: Evolution, globalization and future directions.

British journal of clinical pharmacology·2026

Antipsychotic Drug Interactions and Short-Term Mortality Risk in People With Dementia: A National Cohort Study.

Clinical pharmacology and therapeutics·2026

Cost-effectiveness of first-line pembrolizumab monotherapy in PD-L1-high metastatic non-small cell lung cancer in Australia: evidence from trials and real-world practice.

International journal of clinical pharmacy·2026

Cardiovascular safety of romosozumab versus denosumab for osteoporosis treatment: a multinational real-world data analysis.

Therapeutic advances in musculoskeletal disease·2026

A Pilot Study of the Hereditary Heart Disease Risk Algorithm and User Experience of the Family Health Risk Calculator.

Genetics in medicine : official journal of the American College of Medical Genetics·2026

Succinate dehydrogenase (SDHB, SDHC, SDHD) gene variants significantly modify clinical outcomes in paraganglioma-pheochromocytoma but have a limited impact on head and neck paraganglioma.

Genetics in medicine : official journal of the American College of Medical Genetics·2026

Not the end of the road: Achieving diagnoses following non-diagnostic exome sequencing: experiences at a clinical site of the Undiagnosed Diseases Network.

Genetics in medicine : official journal of the American College of Medical Genetics·2026

The Economic Costs of Genetic Counseling: A Combined Expert Perspective and Systematic Review.

Genetics in medicine : official journal of the American College of Medical Genetics·2026

Barriers and facilitators of implementing integrated genomic risk assessment - a qualitative case study in an academic-affiliated health system.

Genetics in medicine : official journal of the American College of Medical Genetics·2026

Rescue of Proteus syndrome lethality in mice with prenatal miransertib treatment.

Genetics in medicine : official journal of the American College of Medical Genetics·2026

A Homozygous Frameshift Variant in KHDC4 Is Associated With a Syndromic Inherited Retinal Disease in Humans.

Clinical genetics·2026

Multivariate genetic analyses test for the presence of a general 'n' factor underlying neurodevelopmental conditions.

JCPP advances·2026

Functional profiling of STXBP1 missense variants using a novel dual-readout fluorometric assay.

Epilepsia·2026

The association of neighborhood socioeconomic status with birth weight is not confounded by ambient air pollution in twin pregnancies: a retrospective cohort study.

Neonatology·2026

Don't miss this treatable neurogenetic disease!

Pediatric radiology·2026

Large-scale genetic profiling of hereditary ataxias in China: implications for a stepwise molecular diagnostic strategy.

Translational neurodegeneration·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