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Xilma Rosa Ortiz-Gonzalez, MD PhD

Instructor A of Neurology
Clinical Instructor Neurology, Pereleman School of Medicine
Department: Neurology

Contact information
Children’s Hospital of Philadelphia, Division of Neurology & Center for Mitochondrial and Epigenomic Medicine
3501 Civic Center Blvd, 6010 CTRB
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.
Postdoctoral Research Fellow, Children's Hospital of Philadelphia, Center for Epigenomic and Mitochondrial Medicine, 2011-ongoing.
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, mtDNA haplogroup, induced pluripotent stem cells

Description of Clinical Expertise

Pediatric Neurogenetics, Mitochondrial Disease

Selected Publications

Dubbs, HA, Lewin, N, Marsh, ED, Licht, DJ & Ortiz-Gonzalez, XR: Tubulinopathies: Expanding the Phenotype Associated with Mutations in TUBB2A beyond Epilepsy and Brain Malformations. American Epilepsy Society Meeting December 2017.

Ortiz-Gonzalez, X., Tintos-Hernandez, J.A….Wallace, DC, Bonnemann CG : Homozygous Boricua TBCK Mutation Causes Neurodegeneration and Aberrant Autophagy. American Neurological Association Meeting October 2017.

Shen D, Hernandez CC, Shen W, Hu N, Poduri A, Shiedley B, Rotenberg A, Datta AN, Leiz S, Patzer S, Boor R, Ramsey K, Goldberg E, Helbig I, Ortiz-Gonzalez XR, Lemke JR, Marsh ED, & Macdonald RL: De novo GABRG2 mutations associated with epileptic encephalopathies. Brain 140: 49-67, 2017.

Capucilli, P, Albenberg, L, Ortiz-González, XR.: A GI service inpatient admission leading to the diagnosis of Rett syndrome. World Congress of Gastroenterology, Hepatalogy and Nutrition, Montreal October 2016.

Millichap John J, Park Kristen L, Tsuchida Tammy, Ben-Zeev Bruria, Carmant Lionel, Flamini Robert, Joshi Nishtha, Levisohn Paul M, Marsh Eric, Nangia Srishti, Narayanan Vinodh, Ortiz-Gonzalez Xilma R, Patterson Marc C, Pearl Phillip L, Porter Brenda, Ramsey Keri, McGinnis Emily L, Taglialatela Maurizio, Tracy Molly, Tran Baouyen, Venkatesan Charu, Weckhuysen Sarah, Cooper Edward C: KCNQ2 encephalopathy: Features, mutational hot spots, and ezogabine treatment of 11 patients. Neurology. Genetics 2(5): e96, Oct 2016.

Li Dong, Yuan Hongjie, Ortiz-Gonzalez Xilma R, Marsh Eric D, Tian Lifeng, McCormick Elizabeth M, Kosobucki Gabrielle J, Chen Wenjuan, Schulien Anthony J, Chiavacci Rosetta, Tankovic Anel, Naase Claudia, Brueckner Frieder, von Stülpnagel-Steinbeis Celina, Hu Chun, Kusumoto Hirofumi, Hedrich Ulrike B S, Elsen Gina, Hörtnagel Konstanze, Aizenman Elias, Lemke Johannes R, Hakonarson Hakon, Traynelis Stephen F, Falk Marni J: GRIN2D Recurrent De Novo Dominant Mutation Causes a Severe Epileptic Encephalopathy Treatable with NMDA Receptor Channel Blockers. American journal of human genetics Sep 2016.

Chong Jessica X, Caputo Viviana, Phelps Ian G, Stella Lorenzo, Worgan Lisa, Dempsey Jennifer C, Nguyen Alina, Leuzzi Vincenzo, Webster Richard, Pizzuti Antonio, Marvin Colby T, Ishak Gisele E, Ardern-Holmes Simone, Richmond Zara, Bamshad Michael J, Ortiz-Gonzalez Xilma R, Tartaglia Marco, Chopra Maya, Doherty Dan: Recessive Inactivating Mutations in TBCK, Encoding a Rab GTPase-Activating Protein, Cause Severe Infantile Syndromic Encephalopathy. American journal of human genetics 98(4): 772-81, Apr 2016.

Whitman Mary C, Andrews Caroline, Chan Wai-Man, Tischfield Max A, Stasheff Steven F, Brancati Francesco, Ortiz-Gonzalez Xilma, Nuovo Sara, Garaci Francesco, MacKinnon Sarah E, Hunter David G, Grant P Ellen, Engle Elizabeth C: Two unique TUBB3 mutations cause both CFEOM3 and malformations of cortical development. American journal of medical genetics. Part A 170A(2): 297-305, Feb 2016.

Ortiz-Gonzalez, X., Tintos-Hernandez, J.A., Colas, C., and Wallace, D.C: ANT1-deficiency results in aberrant cardiac calcium homeostasis and sarcomeric disruption in human induced pluripotent stem cell derived cardiomyocytes. Mitochondrion Page: 116, 2016.

Tanaka Akemi J, Cho Megan T, Millan Francisca, Juusola Jane, Retterer Kyle, Joshi Charuta, Niyazov Dmitriy, Garnica Adolfo, Gratz Edward, Deardorff Matthew, Wilkins Alisha, Ortiz-Gonzalez Xilma, Mathews Katherine, Panzer Karin, Brilstra Eva, van Gassen Koen L I, Volker-Touw Catharina M L, van Binsbergen Ellen, Sobreira Nara, Hamosh Ada, McKnight Dianalee, Monaghan Kristin G, Chung Wendy K: Mutations in SPATA5 Are Associated with Microcephaly, Intellectual Disability, Seizures, and Hearing Loss. American journal of human genetics 97(3): 457-64, Sep 2015.

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Last updated: 09/12/2017
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