Last Updated: 09/26/2026
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Found 9 publications
Residual allelic activity likely underlies the low rates of disease expression for predicted loss-of-function variants in population-scale biobanks.
Journal: American journal of human genetics
Published: April 08, 2025
Reduced Penetrance is Common Among Predicted Loss-of-Function Variants and is Likely Driven by Residual Allelic Activity.
Journal: medRxiv : the preprint server for health sciences
Published: October 14, 2024
KCNK4-related channelopathy causing a neurodevelopmental syndrome.
Journal: BMJ case reports
Published: November 06, 2023
Retinopathy and optic atrophy in a case of COQ2-related primary coenzyme Q10 deficiency.
Journal: Ophthalmic genetics
Published: November 24, 2022
Current and new therapies for mucopolysaccharidoses.
Journal: Pediatrics and neonatology
Published: September 27, 2022
Expanding the phenotype of PIK3C2A related syndrome: Report of two siblings with novel features and genotype.
Journal: American journal of medical genetics. Part A
Published: February 15, 2022
Common genetic variation associated with Mendelian disease severity revealed through cryptic phenotype analysis.
Journal: Nature communications
Published: October 22, 2021
Estimating heritability and genetic correlations from large health datasets in the absence of genetic data.
Journal: Nature communications
Published: April 23, 2019
Analytical characteristics and comparative evaluation of Aptima HCV quant Dx assay with the Abbott RealTime HCV assay and Roche COBAS AmpliPrep/COBAS TaqMan HCV quantitative test v2.0.
Journal: Virology journal
Published: September 27, 2016
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Last Updated: 09/26/2026