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.
T-32 Postdoctoral Research Fellow , Children's Hospital of Philadelphia, Center for Epigenomic and Mitochondrial Medicine, 2011-2013.
Pediatrics Neurogenetics Fellow, Children's Hospital of Philadelphia, 2011-2012.
Certifications
American Board of Psychiatry and Neurology/Neurology with Special Qualification in Child Neurology, 2011.
Permanent link
 
> Perelman School of Medicine   > Faculty   > Details

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

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.

Zarate Yuri A, Smith-Hicks Constance L, Greene Carol, Abbott Mary-Alice, Siu Victoria M, Calhoun Amy R U L, Pandya Arti, Li Chumei, Sellars Elizabeth A, Kaylor Julie, Bosanko Katherine, Kalsner Louisa, Basinger Alice, Slavotinek Anne M, Perry Hazel, Saenz Margarita, Szybowska Marta, Wilson Louise C, Kumar Ajith, Brain Caroline, Balasubramanian Meena, Dubbs Holly, Ortiz-Gonzalez Xilma R, Zackai Elaine, Stein Quinn, Powell Cynthia M, Schrier Vergano Samantha, Britt Allison, Sun Angela, Smith Wendy, Bebin E Martina, Picker Jonathan, Kirby Amelia, Pinz Hailey, Bombei Hannah, Mahida Sonal, Cohen Julie S, Fatemi Ali, Vernon Hilary J, McClellan Rebecca, Fleming Leah R, Knyszek Brittney, Steinraths Michelle, Velasco Gonzalez Cruz, Beck Anita E, Golden-Grant Katie L, Egense Alena, Parikh Aditi, Raimondi Chantalle, Angle Brad, Allen William, Schott Suzanna, Algrabli Adi, Robin Nathaniel H, Ray Joseph W, Everman David B, Gambello Michael J, Chung Wendy K: Natural history and genotype-phenotype correlations in 72 individuals with SATB2-associated syndrome. American journal of medical genetics. Part A 176(4): 925-935, Feb 2018.

Mills Jason A, Herrera Pamela S, Kaur Maninder, Leo Lanfranco, McEldrew Deborah, Tintos-Hernandez Jesus A, Rajagopalan Ramakrishnan, Gagne Alyssa, Zhang Zhe, Ortiz-Gonzalez Xilma R, Krantz Ian D: NIPBLhaploinsufficiency reveals a constellation of transcriptome disruptions in the pluripotent and cardiac states. Scientific reports 8(1): 1056, Jan 2018.

Straub Jonas, Konrad Enrico D H, Grüner Johanna, Toutain Annick, Bok Levinus A, Cho Megan T, Crawford Heather P, Dubbs Holly, Douglas Ganka, Jobling Rebekah, Johnson Diana, Krock Bryan, Mikati Mohamad A, Nesbitt Addie, Nicolai Joost, Phillips Meredith, Poduri Annapurna, Ortiz-Gonzalez Xilma R, Powis Zöe, Santani Avni, Smith Lacey, Stegmann Alexander P A, Stumpel Constance, Vreeburg Maaike, Fliedner Anna, Gregor Anne, Sticht Heinrich, Zweier Christiane: Missense Variants in RHOBTB2 Cause a Developmental and Epileptic Encephalopathy in Humans, and Altered Levels Cause Neurological Defects in Drosophila. American journal of human genetics 102(1): 44-57, Jan 2018.

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 Notes: Washington, DC.

Ortiz-González Xilma R, Tintos-Hernández Jesus A, Keller Kierstin, Li Xueli, Foley A Reghan, Bharucha-Goebel Diana X, Kessler Sudha K, Yum Sabrina W, Crino Peter B, He Miao, Wallace Douglas C, Bönnemann Carsten G: Homozygous Boricua TBCK Mutation Causes Neurodegeneration and Aberrant Autophagy. Annals of neurology 83(1): 153-165, Dec 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 Notes: San Diego, CA.

Ortiz-Gonzalez Xilma, Goldberg Ethan M, Banwell Brenda: Obituary: Jessica Anne Panzer, MD, PhD. Pediatric neurology 75: 4-5, Oct 2017.

Shen Dingding, Hernandez Ciria C, Shen Wangzhen, Hu Ningning, Poduri Annapurna, Shiedley Beth, Rotenberg Alex, Datta Alexandre N, Leiz Steffen, Patzer Steffi, Boor Rainer, Ramsey Kerri, Goldberg Ethan, Helbig Ingo, Ortiz-Gonzalez Xilma R, Lemke Johannes R, Marsh Eric D, Macdonald Robert L: De novo GABRG2 mutations associated with epileptic encephalopathies. Brain : a journal of neurology 140(1): 49-67, 01 2017.

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Last updated: 07/19/2018
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