Faculty

Xilma R Ortiz-Gonzalez, MD PhD

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

Dubbs H, Ortiz-Gonzalez X, Marsh ED: Pathogenic variants in CASK: Expanding the genotype-phenotype correlations. Am J Med Genet A June 2022.

Joseph T Shieh MD PhD, Jesus A Tintos-Hernandez PhD, Monica Penon-Portmann, Marco Flores-Mendez PhD, Adrian Santana,Joshua A. Bulos, Kang Du, PhD, Lucie Dupuis MSc, Nadirah Damseh MD, Roberto Mendoza-Londoño MD, Camilla Berera, Julieann C Lee MD, Joanna J Phillips MD PhD, César A P F Alves MD PhD, Ivan J Dmochowski PhD and Xilma R Ortiz-González MD PhD: Ferritin Heavy Chain Variants Cause a Novel FTH1- associated Neuroferritinopathy. Annals of Neurology Resubmission under review 2022.

Johannesen KM, Gardella E, Gjerulfsen CE, Bayat A, Rouhl RPW, Reijnders M, Whalen S, Keren B, Buratti J, Courtin T, Wierenga KJ, Isidor B, Piton A, Faivre L, Garde A, Moutton S, Tran-Mau-Them F, Denommé-Pichon AS, Coubes C, Larson A, Esser MJ, Appendino JP, Al-Hertani W, Gamboni B, Mampel A, Mayorga L, Orsini A, Bonuccelli A, Suppiej A, Van-Gils J, Vogt J, Damioli S, Giordano L, Moortgat S, Wirrell E, Hicks S, Kini U, Noble N, Stewart H, Asakar S, Cohen JS, Naidu SR, Collier A, Brilstra EH, Li MH, Brew C, Bigoni S, Ognibene D, Ballardini E, Ruivenkamp C, Faggioli R, Afenjar A, Rodriguez D, Bick D, Segal D, Coman D, Gunning B, Devinsky O, Demmer LA, Grebe T, Pruna D, Cursio I, Greenhalgh L, Graziano C, Singh RR, Cantalupo G, Willems M, Yoganathan S, Góes F, Leventer RJ, Colavito D, Olivotto S, Scelsa B, Andrade AV, Ratke K, Tokarz F, Khan AS, Ormieres C, Benko W, Keough K, Keros S, Hussain S, Franques A, Varsalone F, Grønborg S, Mignot C, Heron D, Nava C, Isapof A, Borlot F, Whitney R, Ronan A, Foulds N, Somorai M, Brandsema J, Helbig KL, Helbig I, Ortiz-González XR, Dubbs H, Vitobello A, et al.: PURA-Related Developmental and Epileptic Encephalopathy: Phenotypic and Genotypic Spectrum. Neurol Genet 7: e613, Nov 2021.

Tintos-Hernández JA, Santana A, Keller KN, Ortiz-González XR.: Lysosomal dysfunction impairs mitochondrial quality control and is associated with neurodegeneration in TBCK encephaloneuronopathy. Brain Commun 3(4): fcab215, Sep 2021.

Xilma R Ortiz-Gonzalez: Mitochondrial Dysfunction: A Common Denominator in Neurodevelopmental Disorders? Developmental Neuroscience August 2021 Notes: DOI: 10.1159/000517870.

Rodan LH, Spillmann RC, Kurata HT, Lamothe SM, Maghera J, Jamra RA, Alkelai A, Antonarakis SE, Atallah I, Bar-Yosef O, Bilan F, Bjorgo K, Blanc X, Van Bogaert P, Bolkier Y, Burrage LC, Christ BU, Granadillo JL, Dickson P, Donald KA, Dubourg C, Eliyahu A, Emrick L, Engleman K, Gonfiantini MV, Good JM, Kalser J, Kloeckner C, Lachmeijer G, Macchiaiolo M, Nicita F, Odent S, O'Heir E, Ortiz-Gonzalez X, Pacio-Miguez M, Palomares-Bralo M, Pena L, Platzer K, Quinodoz M, Ranza E, Rosenfeld JA, Roulet-Perez E, Santani A, Santos-Simarro F, Pode-Shakked B, Skraban C, Slaugh R, Superti-Furga A, Thiffault I, van Jaabrsveld RH, Vincent M, Wang HG, Zacher P; Undiagnosed Diseases Network, Rush E, Pitt G, Au PYB, Shashi V.: Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations. Genet Med 23(10): 1922, Jun 2021.

Cuddapah VA, Dubbs HA, Adang L, Kugler SL, McCormick EM, Zolkipli-Cunningham Z, Ortiz-González XR, McCormack S, Zackai E, Licht DJ, Falk MJ, Marsh ED.: Understanding the phenotypic spectrum of ASXL-related disease: Ten cases and a review of the literature. Am J Med Genet A 185: 1700-1711, June 2021.

Fitzgerald MP, Kaufman MC, Massey SL, Fridinger S, Prelack M, Ellis C, Ortiz-Gonzalez X, Fried LE, DiGiovine MP; CHOP Pediatric Epilepsy Program Collaborative, Melamed S, Malcolm M, Banwell B, Stephenson D, Witzman SM, Gonzalez A, Dlugos D, Kessler SK, Goldberg EM, Abend NS, Helbig I.: Assessing seizure burden in pediatric epilepsy using an electronic medical record-based tool through a common data element approach. Epilepsia 62(7): 1617, June 2021.

Parenti I, Mallozzi MB, Hüning I, Gervasini C, Kuechler A, Agolini E, Albrecht B, Baquero-Montoya C, Bohring A, Bramswig NC, Busche A, Dalski A, Guo Y, Hanker B, Hellenbroich Y, Horn D, Innes AM, Leoni C, Li YR, Lynch SA, Mariani M, Medne L, Mikat B, Milani D, Onesimo R, Ortiz-Gonzalez X, Prott EC, Reutter H, Rossier E, Selicorni A, Wieacker P, Wilkens A, Wieczorek D, Zackai EH, Zampino G, Zirn B, Hakonarson H, Deardorff MA, Gillessen-Kaesbach G, Kaiser FJ.: ANKRD11 variants: KBG syndrome and beyond. Clin Genet 100(2): 187, May 2021.

Abdelmoumen I, Jimenez S, Valencia I, Melvin J, Legido A, Diaz-Diaz MM, Griffith C, Massingham LJ, Yelton M, Rodríguez-Hernández J, Schnur RE, Walsh LE, Cristancho AG, Bergqvist CA, McWalter K, Mathieson I, Belbin GM, Kenny EE, Ortiz-Gonzalez XR, Schneider MC.: Boricua Founder Variant in FRRS1L Causes Epileptic Encephalopathy With Hyperkinetic Movements. J Child Neurol 36: 93-98, Feb 2021.

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Last updated: 07/14/2022
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