Last Updated: 09/26/2026
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Found 25 publications
Phase 3 Trial of Oral Infigratinib in Children with Achondroplasia.
Journal: The New England journal of medicine
Published: June 29, 2026
Author Correction: PHKA1-associated phosphorylase kinase deficiency: a monogenic disorder of exercise intolerance and myalgia.
Journal: NPJ genomic medicine
Published: December 30, 2025
Characterization of severe COL6-related dystrophy due to the recurrent variant COL6A1 c.930+189C>T.
Journal: Brain : a journal of neurology
Published: October 03, 2024
Correction: Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals.
Journal: European journal of human genetics : EJHG
Published: July 26, 2024
Expanding therapeutic options for Pompe disease: a new small molecule inhibitor of glycogen synthase 1 (GYS1) shows preclinical promise in Pompe disease.
Journal: Annals of translational medicine
Published: July 10, 2024
Statistical signature of subtle behavioral changes in large-scale assays.
Journal: PLoS computational biology
Published: June 19, 2024
The recurrent deep intronic pseudoexon-inducing variant COL6A1 c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapy.
Journal: medRxiv : the preprint server for health sciences
Published: April 08, 2024
LarvaTagger: manual and automatic tagging of Drosophila larval behaviour.
Journal: Bioinformatics (Oxford, England)
Published: March 20, 2024
Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals.
Journal: European journal of human genetics : EJHG
Published: February 03, 2024
Last Updated: 09/26/2026