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

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 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, Jun 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.

Klionsky DJ, Abdel-Aziz AK, Abdelfatah S, Abdellatif M, Abdoli A, Abel S, Abeliovich H, Abildgaard MH, Abudu YP, Acevedo-Arozena A, Adamopoulos IE, Adeli K, Adolph TE, Adornetto A, Aflaki E, Agam G, Agarwal A, Aggarwal BB, Agnello M, Agostinis P, Agrewala JN, Agrotis A, Aguilar PV, Ahmad ST, Ahmed ZM, Ahumada-Castro U, Aits S, Aizawa S, Akkoc Y, Akoumianaki T, Akpinar HA, Al-Abd AM, Al-Akra L, Al-Gharaibeh A, Alaoui-Jamali MA, Alberti S, Alcocer-Gómez E, Alessandri C, Ali M, Alim Al-Bari MA, Aliwaini S, Alizadeh J, Almacellas E, Almasan A, Alonso A, Alonso GD, Altan-Bonnet N, Altieri DC, Álvarez ÉMC, Alves S, Alves da Costa C, Alzaharna MM, Amadio M, Amantini C, Amaral C, Ambrosio S, Amer AO, Ammanathan V, An Z, Andersen SU, Andrabi SA, Andrade-Silva M, Andres AM, Angelini S, Ann D, Anozie UC, Ansari MY, Antas P, Antebi A, Antón Z, Anwar T, Apetoh L, Apostolova N, Araki T, Araki Y, Arasaki K, Araújo WL, Araya J, Arden C, Arévalo MA, Arguelles S, Arias E, Arikkath J, Arimoto H, Ariosa AR, Armstrong-James D, Arnauné-Pelloquin L, Aroca A, Arroyo DS, Arsov I, Artero R, Asaro DML, Aschner M, Ashrafizadeh M, Ashur-Fabian O, Atanasov AG, Au AK, Auberger P, Auner HW, Aurelian L, et al.: Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)(1). Autophagy 17: 1-382, Jan 2021.

Xilma R Ortiz-Gonzalez: Mitochondrial Dysfunction: A Common Denominator in Neurodevelopmental Disorders? Developmental Neuroscience in press, 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 lin Genet, 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 pilepsia, 2021.

Tintos-Hernandez, Jesus A, Keller, Kierstin N., Santana, Adrian, Ortiz-Gonzalez, Xilma R: Lysosomal dysfunction impairs mitochondrial quality control and is associated with neurodegeneration in TBCKE. Brain Communications in press 2021 Notes: in press

Fabricio Guimarães Gonçalves 1, Luca Caschera 2, Sara Reis Teixeira 3, Angela Nicole Viaene 4, Lorenzo Pinelli 5, Kshitij Mankad 6, César Augusto Pinheiro Ferreira Alves 3, Xilma Rosa Ortiz-Gonzalez 7 8, Savvas Andronikou 3 9, Arastoo Vossough 3 9: Intracranial calcifications in childhood. Pediatr Radiol July 2020.

Ortiz-Gonzalez X, Wierenga K: SPTBN4 Disorder. Gene Reviews. Adams (eds.). July 2020.

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Last updated: 07/22/2021
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