All Topics
All Topics
Technology
Technology
AI
AI
Business
Business
Entertainment
Entertainment
News
News
Programming
Programming
Science
Science
Design
Design
Environment
Environment
Finance
Finance
Crypto
Crypto
Politics
Politics
Sports
Sports
Education
Education
Gaming
Gaming
Art
Art
Music
Music
Health
Health
Security
Security
Books
Books
Food
Food
Travel
Travel
Personal
Personal
Bluesky
Twitter

Diagnostic Yield of Reanalysis After Nondiagnostic Genome Sequencing in Infants With Unexplained Epilepsy

Dr. Halley Alexander and Dr. Alissa M. D'Gama discuss genetic testing for infantile epilepsies. Show citation: Nguyen JNH, Lachgar-Ruiz M, Higginbotham EJ, et al. Diagnostic Yield of Comprehensive…

Read the full article

You might also wanna read

https://doi.org/10.1001/jamaneurol.2026.1021

A JAMA Neurology study finds X% of infants with genetic epilepsies may benefit from antisense oligonucleotide (ASO) therapy. PMID:42081236,

doi.org·1mo ago

A Study of the Value of Trio Genome Sequencing in the Etiological Evaluation of Early-Onset and/or Atypical Psychiatric Disorders Without Intellectual Disability or Congenital Anomalies

Conditions : Genetic; Diagnostic Strategies Interventions : Biological: Blood sample Sponsors : Centre Hospitalier Universitaire Dijon Not y

clinicaltrials.gov·10d ago

An Open-Source Pipeline Re-Scanned Dormant Genomes — and Found 241 New Rare-Disease Diagnoses

Talos, an open-source automated genomic reanalysis pipeline, surfaced 241 new rare-disease diagnoses in 238 people from 4,735 undiagnosed pa

ThePlanetTools·21d ago

Reducing the Diagnostic Odyssey via Newborn Screening by Genome Sequencing

Traditional NBS uptake has been slow, now new technology is launching pilot projects in NBS by genome sequencing for hundreds of treatable d

radygenomics.org·9mo ago

Assessing Knowledge and Decision-Making in Basic Genomics among Adolescents and Adults

Background Genetic testing and genomic sequencing are increasingly part of pediatric care, yet many adolescents and parents lack the knowled

UConn Today·28d ago

Boston Children's Hospital uses OpenAI's o3 model to diagnose rare genetic diseases in children

Researchers from Boston Children’s Hospital identified 18 diagnoses for children with rare diseases using OpenAI’s o3 model.

nbcnews.com·24d ago

Comments

Sign in to join the conversation.

No comments yet. Be the first.