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

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 Enchephaloneuronopathy: 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.

Mignot Cyril, McMahon Aoife C, Bar Claire, Campeau Philippe M, Davidson Claire, Buratti Julien, Nava Caroline, Jacquemont Marie-Line, Tallot Marilyn, Milh Mathieu, Edery Patrick, Marzin Pauline, Barcia Giulia, Barnerias Christine, Besmond Claude, Bienvenu Thierry, Bruel Ange-Line, Brunga Ledia, Ceulemans Berten, Coubes Christine, Cristancho Ana G, Cunningham Fiona, Dehouck Marie-Bertille, Donner Elizabeth J, Duban-Bedu Bénédicte, Dubourg Christèle, Gardella Elena, Gauthier Julie, Geneviève David, Gobin-Limballe Stéphanie, Goldberg Ethan M, Hagebeuk Eveline, Hamdan Fadi F, Hančárová Miroslava, Hubert Laurence, Ioos Christine, Ichikawa Shoji, Janssens Sandra, Journel Hubert, Kaminska Anna, Keren Boris, Koopmans Marije, Lacoste Caroline, Laššuthová Petra, Lederer Damien, Lehalle Daphné, Marjanovic Dragan, Métreau Julia, Michaud Jacques L, Miller Kathryn, Minassian Berge A, Morales Joannella, Moutard Marie-Laure, Munnich Arnold, Ortiz-Gonzalez Xilma R, Pinard Jean-Marc, Prchalová Darina, Putoux Audrey, Quelin Chloé, Rosen Alyssa R, Roume Joelle, Rossignol Elsa, Simon Marleen E H, Smol Thomas, Shur Natasha, Shelihan Ivan, Štěrbová Katalin, Vyhnálková Emílie, Vilain Catheline, Soblet Julie, Smits Guillaume, Yang Samuel P, van der Smagt Jasper J, van Hasselt Peter M, van Kempen Marjan, Weckhuysen Sarah, Helbig Ingo, Villard Laurent, Héron Delphine, Koeleman Bobby, Møller Rikke S, Lesca Gaetan, Helbig Katherine L, Nabbout Rima, Verbeek Nienke E, Depienne Christel: IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients. Genetics in medicine : official journal of the American College of Medical Genetics Sep 2018.

King Martin S, Thompson Kyle, Hopton Sila, He Langping, Kunji Edmund R S, Taylor Robert W, Ortiz-Gonzalez Xilma R: Expanding the phenotype of de novo -linked mitochondrial disease to include mild myopathy. Neurology. Genetics 4(4): e256, Aug 2018.

Wang Chih-Chuan, Ortiz-González Xilma R, Yum Sabrina W, Gill Sara M, White Amy, Kelter Erin, Seaver Laurie H, Lee Sansan, Wiley Graham, Gaffney Patrick M, Wierenga Klaas J, Rasband Matthew N: βIV Spectrinopathies Cause Profound Intellectual Disability, Congenital Hypotonia, and Motor Axonal Neuropathy. American journal of human genetics 102(6): 1158-1168, Jun 2018.

Snijders Blok Lot, Hiatt Susan M, Bowling Kevin M, Prokop Jeremy W, Engel Krysta L, Cochran J Nicholas, Bebin E Martina, Bijlsma Emilia K, Ruivenkamp Claudia A L, Terhal Paulien, Simon Marleen E H, Smith Rosemarie, Hurst Jane A, McLaughlin Heather, Person Richard, Crunk Amy, Wangler Michael F, Streff Haley, Symonds Joseph D, Zuberi Sameer M, Elliott Katherine S, Sanders Victoria R, Masunga Abigail, Hopkin Robert J, Dubbs Holly A, Ortiz-Gonzalez Xilma R, Pfundt Rolph, Brunner Han G, Fisher Simon E, Kleefstra Tjitske, Cooper Gregory M: De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder. Human genetics May 2018.

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Last updated: 07/23/2019
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