Natalia Gomez-Ospina

16PUBLICATIONS
62CO-AUTHORS
AutoimmunityGene and molecular therapyNeurogeneticsMedical devicesNeurology and neuromuscular diseases
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Publications (16)

|Jul 03, 2026
DNASE1L3 Deficiency With Novel Missense Variant: Enzymatic and Plasma Fragmentomic Evidence of Pathogenicity and Partial Response to JAK Blockade.

|Apr 23, 2026
Publisher Correction: Biallelic variants in RNU2-2 cause the most prevalent known recessive neurodevelopmental disorder.

|Mar 30, 2026
Biallelic variants in RNU2-2 cause the most prevalent known recessive neurodevelopmental disorder.

Daniel Greene, Rodrigo Mendez, Jon Lees

|Sep 02, 2025
Autologous genome-edited hematopoietic stem cells correct Gaucher disease and establish a platform for clinical translation.

Natalia Gomez-Ospina, Luisa Pimentel Vera, Marc Gastou

|Oct 28, 2024
Cell-Type Resolved Protein Atlas of Brain Lysosomes Identifies SLC45A1-Associated Disease as a Lysosomal Disorder.

Ali Ghoochani, Julia C Heiby, Eshaan S Rawat

|Sep 10, 2024
Correction: Myhre syndrome in adulthood: clinical variability and emerging genotype-phenotype correlations.

Eva Vanbelleghem, Tim Van Damme, Aude Beyens

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Frequent Collaborators

4 joint publications

Marco Tartaglia

3 joint publications

Pasqualina Colella

3 joint publications

Edina Poletto

3 joint publications

Matthew H Porteus