Related Experiment Video

Updated: Mar 3, 2026

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

9.2K

Linking newborn severe combined immunodeficiency screening with targeted exome sequencing: A case report

Dipika R Patel1, Hui Yu2, Lee-Jun C Wong2

  • 1Immunology, Allergy and Rheumatology Section, Baylor College of Medicine, Houston, Texas; Department of Pediatrics, Texas Children's Hospital, Houston, Texas; Baylor College of Medicine, Houston, Texas.

The Journal of Allergy and Clinical Immunology. in Practice
|April 26, 2017
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

26.5K
Rare Event Detection Using Error-corrected DNA and RNA Sequencing
10:36

Rare Event Detection Using Error-corrected DNA and RNA Sequencing

Published on: August 3, 2018

12.6K

Related Experiment Videos

Last Updated: Mar 3, 2026

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

9.2K
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

26.5K
Rare Event Detection Using Error-corrected DNA and RNA Sequencing
10:36

Rare Event Detection Using Error-corrected DNA and RNA Sequencing

Published on: August 3, 2018

12.6K

Related Concept Videos

Immunodeficiency Diseases01:25

Immunodeficiency Diseases

2.7K
Immunodeficiency disorders are conditions in which the immune system's ability to fight infectious disease and cancer is compromised or entirely absent. The immune system comprises a complex network of cells, tissues, and organs that work together to protect the body from potentially harmful invaders. When this system is deficient or not functioning properly, it leaves the body susceptible to infections, diseases, or other complications.
There are three main causes of immunodeficiency...
2.7K

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

Newborn screening reduces survival disparities in SCID after stem cell transplant: A PIDTC report.

Journal of human immunity·2026

Hematopoietic cell transplantation for Wiskott-Aldrich syndrome: a PIDTC report.

Blood advances·2025

Outcomes following matched sibling donor transplantation for severe combined immunodeficiency: a report from the PIDTC.

Blood advances·2025

Transient Generalized Osteosclerosis in a Newborn Mimicking Congenital Osteopetrosis with Negative Comprehensive Genetic Workup: A Case Report.

Journal of pediatrics. Clinical practice·2024

Measuring the effect of newborn screening on survival after haematopoietic cell transplantation for severe combined immunodeficiency: a 36-year longitudinal study from the Primary Immune Deficiency Treatment Consortium.

Lancet (London, England)·2023

Severe Combined Immunodeficiency with De Novo Duchenne Muscular Dystrophy Mutation.

JPGN reports·2023

Long-Acting Muscarinic Antagonist as an Alternative to Inhaled Corticosteroids in Type 2-Low Mild Asthma: A Randomized Crossover Non-inferiority Trial.

The journal of allergy and clinical immunology. In practice·2026

Heart rate variability patterns differentiate between positive and negative oral food challenges in children with food allergy.

The journal of allergy and clinical immunology. In practice·2026

Persistent uncontrolled severe asthma despite widespread biologic use: care gaps from the French FASE2-CPHG real-world study.

The journal of allergy and clinical immunology. In practice·2026

Asthmatics with increased triglyceride-glucose index are at elevated risk of exacerbations independent of type 2 inflammation: A prospective cohort study.

The journal of allergy and clinical immunology. In practice·2026

Lessons Learned From Fatal and Near-Fatal Perioperative IgE-Mediated Anaphylaxis.

The journal of allergy and clinical immunology. In practice·2026

Linking Quality Measures to Guideline Recommendations in Allergy-Immunology: Challenges and Opportunities: A Workgroup Report of the AAAAI Measures Stewardship Committee.

The journal of allergy and clinical immunology. In practice·2026

Determinants of HIV testing intentions among heterosexual men in the Bolgatanga Municipality of Ghana: Evidence from the theory of planned behaviour.

PLOS global public health·2026

The First Iranian Patient with West Syndrome Due to a RYR3 Gene Variant: A Case Report and Literature Review.

Archives of Iranian medicine·2026

Genetic analysis of inflammatory proteins following BCG vaccination in Danish children.

Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie·2026

Uncovering Hereditary Risk: Germline Homologous Recombination Repair Variant Spectrum in a Large North Indian Cancer Cohort (INSIGHT-HRR).

JCO global oncology·2026

Ex vivo fluorescence confocal microscopy combined with rapid immunofluorescence for intraoperative intestinal mapping in near-total intestinal aganglionosis: a pediatric proof-of-concept case report.

Frontiers in medical technology·2026

Mechanisms and management of IgA nephropathy progression to end-stage renal disease: From the "four-hit" theory to precision medicine.

Clinical nephrology·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