faculty photo

Xilma R Ortiz-Gonzalez, MD PhD

Assistant Professor of Neurology at the Children's Hospital of Philadelphia
Department: Neurology

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.
Post-Graduate Training
Pediatrics Resident, Children's Hospital of Philadelphia, 2006-2008.
Child Neurology Resident, Children's Hospital of Philadelphia, 2008-2011.
Pediatrics Neurogenetics Fellow, Children's Hospital of Philadelphia, 2011-2012.
T-32 Postdoctoral Research Fellow , Children's Hospital of Philadelphia, Center for Epigenomic and Mitochondrial Medicine, 2011-2013.
Certifications
American Board of Psychiatry and Neurology/Neurology with Special Qualification in Child Neurology, 2011.
Permanent link
 
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Description of Research Expertise

Mitochondrial Disease, induced pluripotent stem cells, mitochondrial dysfunction in pediatric neurodegeneration

Description of Clinical Expertise

Pediatric Neurogenetics, Mitochondrial Disease, TBCK encephalopathy

Selected Publications

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.

Tintos-Hernandez, Jesus A, Keller, Kierstin N., Santana, Adrian, Ortiz-Gonzalez, Xilma R: Lysosomal dysfunction impairs mitochondrial quality control and predicts neurodegeneration in TBCKE. submitted to Brain 2020.

Beck David B, Subramanian T, Vijayalingam S, Ezekiel Uthayashankar R, Donkervoort Sandra, Yang Michele L, Dubbs Holly A, Ortiz-Gonzalez Xilma R, Lakhani Shenela, Segal Devorah, Au Margaret, Graham John M, Verma Sumit, Waggoner Darrel, Shinawi Marwan, Bönnemann Carsten G, Chung Wendy K, Chinnadurai G: A pathogenic CtBP1 missense mutation causes altered cofactor binding and transcriptional activity. Neurogenetics 20(3): 129-143, Aug 2019.

Tintos-Hernandez JT, Santana A and Ortiz-Gonzalez X: TBCK Encephaloneuronopathy: A Novel Lysosomal Storage Disorder? David W Smith Workshop on Malformation and Morphogenesis August 2019.

Xilma Ortiz-Gonzalez, Jesus A Tintos-Hernandez and Douglas C Wallace: Examining mitochondrial quality control in TBCK-encephaloneuronopathy using human iPSC derived neurons. UMDF Abstracts June 2019.

Jesus Tintos-Hernandez, Kierstin Keller, Douglas Wallace, Xilma Ortiz-Gonzalez : Aberrant Mitophagy in the Pediatric Neurodegenerative Disorder TBCKE. Neurology 92(15 Supplement): p4.6-064, April 2019.

Cardenas F, Diaz-MirandaM, Osorio-Quintero C, Kishore S, Leavens K, Snenescu D, Ortiz-Gonzalez X, Yoon C, Chen C, Haliyur R, Brissova M, Powers A, French D, Gadue P: Modeling monogenic diabetes using human ES cells reveals developmental and metabolic deficiencies caused by mutations in HNF1A. Cell Stem Cell 2019 Notes: in press.

Blackburn Patrick R, Chacon-Camacho Oscar F, Ortiz-González Xilma R, Reyes Mariana, Lopez-Uriarte Graciela A, Zarei Shabnam, Bhoj Elizabeth J, Perez-Solorzano Sofia, Vaubel Rachael A, Murphree Marine I, Nava Jessica, Cortes-Gonzalez Vianney, Parisi Joseph E, Villanueva-Mendoza Cristina, Tirado-Torres Iris G, Li Dong, Klee Eric W, Pichurin Pavel N, Zenteno Juan C: Extension of the mutational and clinical spectrum of SOX2 related disorders: Description of six new cases and a novel association with suprasellar teratoma. American journal of medical genetics. Part A 176(12): 2710-2719, Dec 2018.

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Last updated: 07/29/2020
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