Xilma R. Ortiz-Gonzalez

Pediatric Neurology
3501 Civic Center Blvd
Philadelphia, PA 19104

Last Updated: 09/26/2026

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Found 50 publications

Genetic testing for familial epilepsies: Diagnostic yield and genetic findings.

Genetic testing for familial epilepsies: Diagnostic yield and genetic findings.

Journal: Epilepsia
Published: December 02, 2025

Patient-Derived Variants Define Constraints for Ligand Binding at the PDZ Domain of CASK.

Patient-Derived Variants Define Constraints for Ligand Binding at the PDZ Domain of CASK.

Journal: Journal of neurochemistry
Published: May 28, 2025

Bi-allelic variants in BCAT1 impair mitochondrial function and are associated with a candidate neurometabolic disorder.

Bi-allelic variants in BCAT1 impair mitochondrial function and are associated with a candidate neurometabolic disorder.

Journal: HGG advances
Published: April 10, 2025

TBCK-deficiency leads to compartment-specific mRNA and lysosomal trafficking defects in patient-derived neurons.

TBCK-deficiency leads to compartment-specific mRNA and lysosomal trafficking defects in patient-derived neurons.

Journal: bioRxiv : the preprint server for biology
Published: March 17, 2025

Promoting Open Discussions of Scientific Failure within the Annual Society for Neuroscience Conference.

Promoting Open Discussions of Scientific Failure within the Annual Society for Neuroscience Conference.

Journal: eNeuro
Published: November 15, 2024

Expanding the Early Childhood Manifestations of ITPR1 Heterozygous Variants Beyond Congenital Ataxia and Gillespie Syndrome.

Expanding the Early Childhood Manifestations of ITPR1 Heterozygous Variants Beyond Congenital Ataxia and Gillespie Syndrome.

Journal: Neurology. Genetics
Published: October 24, 2024

Retraction Note: Pluripotency of mesenchymal stem cells derived from adult marrow.

Retraction Note: Pluripotency of mesenchymal stem cells derived from adult marrow.

Journal: Nature
Published: June 17, 2024

IMPDH2 filaments protect from neurodegeneration in AMPD2 deficiency.

IMPDH2 filaments protect from neurodegeneration in AMPD2 deficiency.

Journal: bioRxiv : the preprint server for biology
Published: February 08, 2024

IMPDH2 filaments protect from neurodegeneration in AMPD2 deficiency.

IMPDH2 filaments protect from neurodegeneration in AMPD2 deficiency.

Journal: EMBO reports
Published: January 15, 2024

Clinical features and genotype-phenotype correlations in epilepsy patients with de novo DYNC1H1 variants.

Clinical features and genotype-phenotype correlations in epilepsy patients with de novo DYNC1H1 variants.

Journal: Epilepsia
Published: November 27, 2023

Heterozygous nonsense variants in the ferritin heavy-chain gene FTH1 cause a neuroferritinopathy.

Heterozygous nonsense variants in the ferritin heavy-chain gene FTH1 cause a neuroferritinopathy.

Journal: HGG advances
Published: May 17, 2023

Heterozygous Nonsense Variants in the Ferritin Heavy Chain Gene FTH1 Cause a Novel Pediatric Neuroferritinopathy.

Heterozygous Nonsense Variants in the Ferritin Heavy Chain Gene FTH1 Cause a Novel Pediatric Neuroferritinopathy.

Journal: medRxiv : the preprint server for health sciences
Published: February 13, 2023
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Last Updated: 09/26/2026