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Xilma R Ortiz-González

6PUBLICATIONS

43CO-AUTHORS

Epigenetics (incl. genome methylation and epigenomics)Neurology and neuromuscular diseasesInfant and child healthNeonatology

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Publications (6)

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|Mar 08, 2026

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

Colin A Ellis, Juliette Copeland, Isabella Velez

|Mar 17, 2025

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

Marco Flores-Mendez, Jesus A Tintos-Hernández, Leonardo Ramos-Rodriguez

|Jul 29, 2024

IMPDH2 filaments protect from neurodegeneration in AMPD2 deficiency.

Marco Flores-Mendez, Laura Ohl, Thomas Roule

|May 06, 2021

ANKRD11 variants: KBG syndrome and beyond.

Ilaria Parenti, Mark B Mallozzi, Irina Hüning

|Sep 15, 2020

Boricua Founder Variant in <i>FRRS1L</i> Causes Epileptic Encephalopathy With Hyperkinetic Movements.

Imane Abdelmoumen, Sandra Jimenez, Ignacio Valencia

|Sep 04, 2019

Mitochondrial single-stranded DNA binding protein novel de novo SSBP1 mutation in a child with single large-scale mtDNA deletion (SLSMD) clinically manifesting as Pearson, Kearns-Sayre, and Leigh syndromes.

Margaret A Gustafson, Elizabeth M McCormick, Lalith Perera

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Frequent Collaborators

2 joint publications

Marco Flores-Mendez

1 joint publications

Ilaria Parenti

1 joint publications

Cristina Gervasini

1 joint publications

Emanuele Agolini

1 joint publications

Denise Horn

1 joint publications

A Micheil Innes

1 joint publications

Chiara Leoni

1 joint publications

Sally Ann Lynch

1 joint publications

Milena Mariani

1 joint publications

Donatella Milani

Frequent Collaborators

2 joint publications

Marco Flores-Mendez

1 joint publications

Ilaria Parenti

1 joint publications

Cristina Gervasini

1 joint publications

Emanuele Agolini

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