Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 45 publications
DNASE1L3 Deficiency With Novel Missense Variant: Enzymatic and Plasma Fragmentomic Evidence of Pathogenicity and Partial Response to JAK Blockade.
Journal: ACR open rheumatology
Published: November 10, 2025
Biallelic variants in RNU2-2 cause the most prevalent known recessive neurodevelopmental disorder.
Journal: medRxiv : the preprint server for health sciences
Published: September 05, 2025
Autologous genome-edited hematopoietic stem cells correct Gaucher disease and establish a platform for clinical translation.
Journal: Research square
Published: September 02, 2025
Biallelic variants in RNU2-2 cause the most prevalent known recessive neurodevelopmental disorder.
Journal: Nature genetics
Published: August 21, 2025
Cell-Type Resolved Protein Atlas of Brain Lysosomes Identifies SLC45A1-Associated Disease as a Lysosomal Disorder.
Journal: bioRxiv : the preprint server for biology
Published: October 28, 2024
Correction: Myhre syndrome in adulthood: clinical variability and emerging genotype-phenotype correlations.
Journal: European journal of human genetics : EJHG
Published: September 10, 2024
Myhre syndrome in adulthood: clinical variability and emerging genotype-phenotype correlations.
Journal: European journal of human genetics : EJHG
Published: January 30, 2024
CNS Repopulation by Hematopoietic-Derived Microglia-Like Cells Corrects Progranulin deficiency.
Journal: Research square
Published: October 04, 2023
CNS-wide repopulation by hematopoietic-derived microglia-like cells corrects progranulin deficiency in mice.
Journal: Nature communications
Published: August 21, 2023
Last Updated: 09/26/2026