Faculty

Xilma R Ortiz-Gonzalez, MD PhD

Associate Professor of Neurology at the Children's Hospital of Philadelphia

Department: Neurology

Graduate Group Affiliations

Contact information

Children’s Hospital of Philadelphia, Division of Neurology & Center for Mitochondrial and Epigenomic Medicine
Philadelphia, PA 19104

Office: 215-590-1719
Fax: 215-590-1771

Publications

Search PubMed for articles

Education:
BS (Chemistry)
University of Puerto Rico, Cayey, 1997.
PhD (Neuroscience)
University of Minnesota, 2004.
MD (Medicine)
University of Minnesota Medical School, Minneapolis, 2006.

Links
Search PubMed for articles
Media Coverage of neurogenetic disorders in Puerto Rican children
Dr Ortiz-Gonzalez google scholar page
Ortiz-Gonzalez Lab page
Dr Ortiz-Gonzalez CHOP Profile
TBCK Boricua paper news coverage
TBCK Research page

Permanent link

> Perelman School of Medicine > Faculty > Details

Description of Research Expertise

Research Interests: The Ortiz-Gonzalez lab is interested in pediatric neurodegenerative disorders and how these rare genetic disorders inform our knowledge of neurobiology and pathways critical for maintaining brain health. We focus on the role mitochondrial dysfunction in neurodegenerative phenotypes.

Key words: Mitochondria, induced pluripotent stem cells, neurodegeneration

Research techniques: model novel human disease genes, patient-derived IPSC models, zebrafish model, mitochondrial function assays, confocal live imaging

Description of Clinical Expertise

Pediatric Neurogenetics, Mitochondrial Disease, TBCK encephalopathy

Selected Publications

Ellis CA, Copeland J, Velez I, Oliver KL, Shalaby H, Baldwin A, Armstrong C, Back A, Berlin B, Cohen S, Cuddapah VA, deCampo D, Dubbs H, Ginn N, Harrison AG, Lewin N, Lusk L, Marsh ED, Massey SL, McDonnell PP, McKee JL, Ortiz-Gonzalez X, Prentice AJ, Sullivan KR, Ruggiero SM, Fitzgerald MP, Goldberg EM, Helbig I.: Genetic testing for familial epilepsies: Diagnostic yield and genetic findings. Epilepsia Mar 2026.

DiSanza BL, Porcari GS, Sertori Finoti L, Ramos-Rodriguez L, Burris DM, McDonough JA, Ning G, Fagan G, Helman GT, Weiss E, Taft RJ, Pizzino A, Whitehead MT, Waldman A, Simons C, Ortiz-Gonzalez X, Skarnes WC, Vanderver A, Bhoj EJ, Ahrens-Nicklas RC.: Bi-allelic variants in BCAT1 impair mitochondrial function and are associated with a candidate neurometabolic disorder. HGG Adv 7: 100525, Jan 2026.

Lara E Terry; Holly Dubbs; Kelly H Markwalter; Sundeep Malik; Alonso J Tintos-Hernandez;David I Yule2; Xilma R. Ortiz-Gonzalez: Expanding the early childhood manifestations of ITPR1 heterozygous variants beyond congenital ataxia and Gillespie syndrome. Neurology Genetics Dec 2025.

Terry LE, Dubbs H, Markwalter KH, Malik S, Tintos-Hernandez JA, Yule DI, Ortiz-Gonzalez XR.: Expanding the Early Childhood Manifestations of ITPR1 Heterozygous Variants Beyond Congenital Ataxia and Gillespie Syndrome. Neurol Genet 12: e200328, Dec 2025.

Ortiz-Gonzalez X, Dubbs H, Keller K, Durham E.: TBCK-Related Neurodevelopmental Disorder. GeneReviews(®) June 2025.

Hagenauer MH, David Redish A, Schiller D, Bigos KL, Flagel S, Rodriguez A, Parker Z, O'Connor A, Ortiz-Gonzalez X, Murphy D, Leeson R; Community for Rigor.: Promoting Open Discussions of Scientific Failure within the Annual Society for Neuroscience Conference. eNeuro 12: ENEURO, Mar 2025.

Flores-Mendez M, Tintos-Hernández JA, Ramos-Rodriguez L, Miles L, Lo TY, Song Y, Ortiz-González XR.: TBCK-deficiency leads to compartment-specific mRNA and lysosomal trafficking defects in patient-derived neurons. bioRxiv Mar 2025.

Tibbe D, Hönck HH, Bhatia N, Truong T, Proskauer L, Ortiz-Gonzalez X, Maguire JA, Pak C, Kreienkamp HJ.: Patient-Derived Variants Define Constraints for Ligand Binding at the PDZ Domain of CASK. J Neurochem 2025.

Marco Flores-Mendez, Laura Ohl, Thomas Roule, Yijing Zhou, Jesus A Tintos-Hernández, Kelsey Walsh, Xilma R Ortiz-González, Naiara Akizu: IMPDH2 filaments protect from neurodegeneration in AMPD2 deficiency. EMBO reports 25(9): 3990-4012. September 2024.

Cuccurullo C, Cerulli Irelli E, Ugga L, Riva A, D'Amico A, Cabet S, Lesca G, Bilo L, Zara F, Iliescu C, Barca D, Fung F, Helbig K, Ortiz-Gonzalez X, Schelhaas HJ, Willemsen MH, van der Linden I, Canafoglia L, Courage C, Gommaraschi S, Gonzalez-Alegre P, Bardakjian T, Syrbe S, Schuler E, Lemke JR, Vari S, Roende G, Bak M, Huq M, Powis Z, Johannesen KM, Hammer TB, Møller RS, Rabin R, Pappas J, Zupanc ML, Zadeh N, Cohen J, Naidu S, Krey I, Saneto R, Thies J, Licchetta L, Tinuper P, Bisulli F, Minardi R, Bayat A, Villeneuve N, Molinari F, Salimi Dafsari H, Moller B, Le Roux M, Houdayer C, Vecchi M, Mammi I, Fiorini E, Proietti J, Ferri S, Cantalupo G, Battaglia DI, Gambardella ML, Contaldo I, Brogna C, Trivisano M, De Dominicis A, Bova SM, Gardella E, Striano P, Coppola A.: Clinical features and genotype-phenotype correlations in epilepsy patients with de novo DYNC1H1 variants. Epilepsia 65(9): 2728-2750, Jul 2024.