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

Selected Publications

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.

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

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.

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.

Theodore G Drivas 1, Dong Li 1, Divya Nair 1, Joseph T Alaimo 2 3, Mariëlle Alders 4, Janine Altmüller 5, Tahsin Stefan Barakat 6, E Martina Bebin 7, Nicole L Bertsch 8, Patrick R Blackburn 9, Alyssa Blesson 10, Arjan M Bouman 6, Knut Brockmann 11, Perrine Brunelle 12 13, Margit Burmeister 14 15, Gregory M Cooper 16, Jonas Denecke 17, Anne Dieux-Coëslier 12 13, Holly Dubbs 18, Alejandro Ferrer 19, Danna Gal 20, Lauren E Bartik 2 21, Lauren B Gunderson 8, Linda Hasadsri 9, Mahim Jain 10, Catherine Karimov 22, Beth Keena 1, Eric W Klee 19, Katja Kloth 23, Baiba Lace 24, Marina Macchiaiolo 25, Julien L Marcadier 26, Jeff M Milunsky 27, Melanie P Napier 28, Xilma R Ortiz-Gonzalez 18 29, Pavel N Pichurin 8, Jason Pinner 30, Zoe Powis 31, Chitra Prasad 28, Francesca Clementina Radio 25, Kristen J Rasmussen 9, Deborah L Renaud 8, Eric T Rush 2 21 32, Carol Saunders 2 3 21, Duygu Selcen 33, Ann R Seman 34, Deepali N Shinde 31, Erica D Smith 31, Thomas Smol 12 13, Lot Snijders Blok 35 36, Joan M Stoler 34, Sha Tang 31, Marco Tartaglia 25, Michelle L Thompson 16, Jiddeke M van de Kamp 37, Jingmin Wang 38 39, Dagmar Weise 11, Karin Weiss 40, Rixa Woitschach 23, Bernd Wollnik 41 42, Huifang Yan 14 38, Elaine H Zackai 1, Giuseppe Zampino 43, Philippe Campeau 44, Elizabeth Bhoj : A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome. Eur J Hum Genet June 2020 Notes: doi 10.1038/s41431-020-0654-4.

Edited by Falk M: Mitochondrial Disease Genes Compendium From Genes to Clinical Manifestations. ISBN: 9780128200308. Elsevier, April 2020.

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Last updated: 06/07/2021
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