Search Results
Article
Best-worst scaling analysis of priorities for participation in gene therapy clinical trials for Duchenne muscular dystrophy
October 01, 2023
Article
Use of a web-based portal to return normal individual research results in Early Check: Exploring user behaviors and attitudes
June 01, 2023
Article
NBSTRN Tools to advance newborn screening research and support newborn screening stakeholders
October 30, 2023
Event
American Society of Human Genetics (ASHG) Annual Meeting 2023
November 01, 2023
Insight
Screening Aimed to Advance Public Health Outcomes for Newborns
May 10, 2023
News Release
Early Check study to use genome sequencing to dramatically expand voluntary screening offered for North Carolina newborns
September 20, 2023
Article
Age of diagnosis for children with chromosome 15q syndromes
November 07, 2023
Article
Risk tolerance of caregivers of individuals with Duchenne muscular dystrophy for gene therapy
October 01, 2023
Article
SPTSSA variants alter sphingolipid synthesis and cause a complex hereditary spastic paraplegia
April 19, 2023
Article
A concurrent dual analysis of genomic data augments diagnoses: Experiences of 2 clinical sites in the Undiagnosed Diseases Network
April 01, 2023
Article
Two years of newborn screening for Duchenne Muscular Dystrophy as a part of the statewide Early Check research program in North Carolina
January 01, 2024
Article
Diagnosis of TBC1D32-associated conditions: Expanding the phenotypic spectrum of a complex ciliopathy
May 01, 2023
Article
A humanized Caenorhabditis elegans model of Hereditary Spastic Paraplegia associated variants in kinesin light chain KLC4
August 11, 2023