Xilma R. Ortiz-Gonzalez

ScholarGPS® ID: 95810896204784

Affiliation

Children's Hospital of Philadelphia

Affiliation History

Field

Medicine

Discipline

Neurology

Top Specialties

Mutation | Epilepsy | Stem Cell | Human Genetics | Bone Marrow

Metrics Summary

Publication Count

Predicted Citations

10,068

Predicted h-index

Ranking

Publications and Citation History

Publications based on Top Specialties

Types of Publication

Publications
Books
Patents
NIH/NSF

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Retraction Note: Pluripotency of mesenchymal stem cells derived from adult marrow (journal article) Jiang, Yuehua \| Jahagirdar, Balkrishna N. \| Reinhardt, R. Lee \| Schwartz, Robert E. \| Keene, C. Dirk \| Ortiz-Gonzalez, Xilma R. \| Reyes, Morayma \| Lenvik, Todd \| Lund, Troy \| Blackstad, Mark \| ... \| Verfaillie, Catherine M. Nature, volume 630, issue 8018, pages 1020-1020 (2024). 10.1038/s41586-024-07653-0 Cite \| Source
Heterozygous nonsense variants in the ferritin heavy-chain gene FTH1 cause a neuroferritinopathy (journal article) Shieh, Joseph T. \| Tintos-Hernandez, Jesus A. \| Murali, Chaya N. \| Penon-Portmann, Monica \| Flores-Mendez, Marco \| Santana, Adrian \| Bulos, Joshua A. \| Du, Kang \| Dupuis, Lucie \| Damseh, Nadirah \| ... \| Ortiz-González, Xilma R. Human Genetics and Genomics Advances, volume 4, issue 4, pages 100236- (2023). 10.1016/j.xhgg.2023.100236 Cited by (1) \| Cite \| Source
Pathogenic variants in CASK : Expanding the genotype–phenotype correlations (journal article) Dubbs, Holly \| Ortiz‐Gonzalez, Xilma \| Marsh, Eric D. American Journal of Medical Genetics Part A, volume 188, issue 9, pages 2617-2626 (2022). 10.1002/ajmg.a.62863 Cited by (6) \| Cite \| Source
Lysosomal dysfunction impairs mitochondrial quality control and is associated with neurodegeneration in TBCK encephaloneuronopathy (journal article) Tintos-Hernández, Jesus A \| Santana, Adrian \| Keller, Kierstin N \| Ortiz-González, Xilma R Brain Communications, volume 3, issue 4 (2021). 10.1093/braincomms/fcab215 Cited by (2) \| Cite \| Source
Boricua Founder Variant in FRRS1L Causes Epileptic Encephalopathy With Hyperkinetic Movements (journal article) Abdelmoumen, Imane \| Jimenez, Sandra \| Valencia, Ignacio \| Melvin, Joseph \| Legido, Agustin \| Diaz-Diaz, Mayela M. \| Griffith, Christopher \| Massingham, Lauren J. \| Yelton, Melissa \| Rodríguez-Hernández, Janice \| ... \| Schneider, Michael C. Journal of Child Neurology, volume 36, issue 2, pages 93-98 (2021). 10.1177/0883073820953001 Cited by (3) \| Cite \| Source
Mitochondrial Dysfunction: A Common Denominator in Neurodevelopmental Disorders? (journal article) Ortiz-González, Xilma R. Developmental Neuroscience, volume 43, issue 3-4, pages 222-229 (2021). 10.1159/000517870 Cited by (27) \| Cite \| Source
Intracranial calcifications in childhood: Part 1 (journal article) Gonçalves, Fabrício Guimarães \| Caschera, Luca \| Teixeira, Sara Reis \| Viaene, Angela Nicole \| Pinelli, Lorenzo \| Mankad, Kshitij \| Alves, César Augusto Pinheiro Ferreira \| Ortiz-Gonzalez, Xilma Rosa \| Andronikou, Savvas \| Vossough, Arastoo Pediatric Radiology, volume 50, issue 10, pages 1424-1447 (2020). 10.1007/s00247-020-04721-1 Cited by (19) \| Cite \| Source
Intracranial calcifications in childhood: Part 2 (journal article) Gonçalves, Fabricio Guimarães \| Caschera, Luca \| Teixeira, Sara Reis \| Viaene, Angela Nicole \| Pinelli, Lorenzo \| Mankad, Kshitij \| Alves, César Augusto Pinheiro Ferreira \| Ortiz-Gonzalez, Xilma Rosa \| Andronikou, Savvas \| Vossough, Arastoo Pediatric Radiology, volume 50, issue 10, pages 1448-1475 (2020). 10.1007/s00247-020-04716-y Cited by (9) \| Cite \| Source
Contributors (book chapter) In Mitochondrial Disease Genes Compendium de Barcelos, Isabella Peixoto \| Falk, Marni J. \| Gai, Xiaowu \| Ganetzky, Rebecca D. \| Goldstein, Amy C. \| Keller, Kierstin \| Kripps, Kimberly A. \| Larson, Austin \| McCormick, Elizabeth M. \| Muraresku, Colleen \| ... \| Zolkipli-Cunningham, Zarazuela Elsevier (2020) 10.1016/B978-0-12-820029-2.00012-7 Cite \| Source
Mitochondrial single-stranded DNA binding protein novel de novo SSBP1 mutation in a child with single large-scale mtDNA deletion (SLSMD) clinically manifesting as Pearson, Kearns-Sayre, and Leigh syndromes (journal article) Gustafson, Margaret A. \| McCormick, Elizabeth M. \| Perera, Lalith \| Longley, Matthew J. \| Bai, Renkui \| Kong, Jianping \| Dulik, Matthew \| Shen, Lishuang \| Goldstein, Amy C. \| McCormack, Shana E. \| ... \| Falk, Marni J. PLOS ONE, volume 14, issue 9, pages e0221829- (2019). 10.1371/journal.pone.0221829 Cited by (27) \| Cite \| Source
Modeling Monogenic Diabetes using Human ESCs Reveals Developmental and Metabolic Deficiencies Caused by Mutations in HNF1A (journal article) Cardenas-Diaz, Fabian L. \| Osorio-Quintero, Catherine \| Diaz-Miranda, Maria A. \| Kishore, Siddharth \| Leavens, Karla \| Jobaliya, Chintan \| Stanescu, Diana \| Ortiz-Gonzalez, Xilma \| Yoon, Christine \| Chen, Christopher S. \| ... \| Gadue, Paul Cell Stem Cell, volume 25, issue 2, pages 273-289.e5 (2019). 10.1016/j.stem.2019.07.007 Cited by (56) \| Cite \| Source
A pathogenic CtBP1 missense mutation causes altered cofactor binding and transcriptional activity (journal article) 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 \| ... \| Chinnadurai, G. neurogenetics, volume 20, issue 3, pages 129-143 (2019). 10.1007/s10048-019-00578-1 Cited by (13) \| Cite \| Source
Aberrant Mitophagy In The Pediatric Neurodegenerative Syndrome TBCKE (P4.6-064) (journal article) Tintos-Hernandez, Jesus \| Keller, Kierstin \| Wallace, Douglas \| Ortiz-Gonzalez, Xilma Neurology, volume 92, issue 15_supplement (2019). 10.1212/WNL.92.15_supplement.P4.6-064 Cite \| Source
Extension of the mutational and clinical spectrum of SOX2 related disorders: Description of six new cases and a novel association with suprasellar teratoma (journal article) 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. \| ... \| Zenteno, Juan C. American Journal of Medical Genetics Part A, volume 176, issue 12, pages 2710-2719 (2018). 10.1002/ajmg.a.40644 Cited by (7) \| Cite \| Source
Expanding the phenotype of de novo SLC25A4 -linked mitochondrial disease to include mild myopathy (journal article) King, Martin S. \| Thompson, Kyle \| Hopton, Sila \| He, Langping \| Kunji, Edmund R.S. \| Taylor, Robert W. \| Ortiz-Gonzalez, Xilma R. Neurology Genetics, volume 4, issue 4 (2018). 10.1212/NXG.0000000000000256 Cited by (18) \| Cite \| Source \| Open Access
βIV Spectrinopathies Cause Profound Intellectual Disability, Congenital Hypotonia, and Motor Axonal Neuropathy (journal article) 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. \| ... \| Rasband, Matthew N. The American Journal of Human Genetics, volume 102, issue 6, pages 1158-1168 (2018). 10.1016/j.ajhg.2018.04.012 Cited by (46) \| Cite \| Source
NIPBL+/− haploinsufficiency reveals a constellation of transcriptome disruptions in the pluripotent and cardiac states (journal article) 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. Scientific Reports, volume 8, issue 1 (2018). 10.1038/s41598-018-19173-9 Cited by (22) \| Cite \| Source \| Open Access
Homozygous boricua TBCK mutation causes neurodegeneration and aberrant autophagy (journal article) 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 \| ... \| Bönnemann, Carsten G. Annals of Neurology, volume 83, issue 1, pages 153-165 (2018). 10.1002/ana.25130 Cited by (27) \| Cite \| Source
Missense Variants in RHOBTB2 Cause a Developmental and Epileptic Encephalopathy in Humans, and Altered Levels Cause Neurological Defects in Drosophila (journal article) 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 \| ... \| Zweier, Christiane The American Journal of Human Genetics, volume 102, issue 1, pages 44-57 (2018). 10.1016/j.ajhg.2017.11.008 Cited by (50) \| Cite \| Source
Jessica Anne Panzer, MD, PhD (1977–2017) (journal article) Banwell, Brenda \| Goldberg, Ethan M. \| Ortiz-Gonzalez, Xilma R. Neurology, volume 89, issue 19, pages 1942-1943 (2017). 10.1212/WNL.0000000000004637 Cite \| Source

Title	Investigators	Year	Cost	Agency
TBCK Encephaloneuronopathy: establishing the role of mitochondrial dysfunction in promoting neurodegeneration	Ortiz-Gonzalez, Xilma R	2020	$191,894	NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE
Minority predoctoral fellowship program	Ortiz-Gonzalez, Xilma R	2005	$36,122	NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE
Minority predoctoral fellowship program	Ortiz-Gonzalez, Xilma R	2004	$36,122	NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE
Minority predoctoral fellowship program	Ortiz-Gonzalez, Xilma R	2003	$35,318	NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE
Minority predoctoral fellowship program	Ortiz-Gonzalez, Xilma R	2002	$33,506	NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE