Frontiers in congenital disorders of glycosylation consortium, a cross-sectional study report at year 5 of 280 individuals in the natural history cohort
Objective Our report describes clinical, genetic, and biochemical features of participants with
a molecularly confirmed congenital disorder of glycosylation (CDG) enrolled in the Frontiers …
a molecularly confirmed congenital disorder of glycosylation (CDG) enrolled in the Frontiers …
Evidence from 2100 index cases supports genome sequencing as a first-tier genetic test
Purpose Genome sequencing (GS) is one of the most comprehensive assays that
interrogate single-nucleotide variants, copy number variants, mitochondrial variants, repeat …
interrogate single-nucleotide variants, copy number variants, mitochondrial variants, repeat …
Exome and genome sequencing in a heterogeneous population of patients with rare disease: Identifying predictors of a diagnosis
J Pucel, LC Briere, C Reuter, P Gochyyev, MT Acosta… - Genetics in …, 2024 - Elsevier
Purpose Exome (ES) and genome sequencing (GS) are increasingly being utilized for
individuals with rare and undiagnosed diseases; however, guidelines on their use remain …
individuals with rare and undiagnosed diseases; however, guidelines on their use remain …
[HTML][HTML] Universal Exome Sequencing in Critically Ill Adults: A Diagnostic Yield of 25% and Race-Based Disparities in Access to Genetic Testing
J Gold, CM Kripke, RG Center, PM BioBank, TG Drivas - medRxiv, 2024 - ncbi.nlm.nih.gov
Numerous studies have underscored the diagnostic and therapeutic potential of exome or
genome sequencing in critically ill pediatric populations. However, an equivalent …
genome sequencing in critically ill pediatric populations. However, an equivalent …