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Xilma R Ortiz-Gonzalez, MD, PhD
Xilma R Ortiz-Gonzalez, MD, PhD
Children's Hospital of Philadelphia, University of Pennsylvania Perelman School of Medicine
Verified email at email.chop.edu
Title
Cited by
Cited by
Year
Pluripotency of mesenchymal stem cells derived from adult marrow
Y Jiang, BN Jahagirdar, RL Reinhardt, RE Schwartz, CD Keene, ...
Nature 418 (6893), 41, 2002
86652002
Circadian clock proteins regulate neuronal redox homeostasis and neurodegeneration
ES Musiek, MM Lim, G Yang, AQ Bauer, L Qi, Y Lee, JH Roh, ...
The Journal of clinical investigation 123 (12), 5389, 2013
4632013
KCNQ2 encephalopathy Features, mutational hot spots, and ezogabine treatment of 11 patients
JJ Millichap, KL Park, T Tsuchida, B Ben-Zeev, L Carmant, R Flamini, ...
Neurology Genetics 2 (5), e96, 2016
2042016
An acid sensing ion channel (ASIC) localizes to small primary afferent neurons in rats
TH Olson, MS Riedl, L Vulchanova, XR Ortiz-Gonzalez, R Elde
Neuroreport 9 (6), 1109-1113, 1998
1751998
Thymidine analogs are transferred from prelabeled donor to host cells in the central nervous system after transplantation: a word of caution
TC Burns, XR Ortiz‐González, M Gutiérrez‐Pérez, CD Keene, R Sharda, ...
Stem cells 24 (4), 1121-1127, 2006
1742006
Mutations in SPATA5 Are Associated with Microcephaly, Intellectual Disability, Seizures, and Hearing Loss
AJ Tanaka, MT Cho, F Millan, J Juusola, K Retterer, C Joshi, D Niyazov, ...
The American Journal of Human Genetics 97 (3), 457-464, 2015
1712015
GRIN2D Recurrent De Novo Dominant Mutation Causes a Severe Epileptic Encephalopathy Treatable with NMDA Receptor Channel Blockers
D Li, H Yuan, XR Ortiz-Gonzalez, ED Marsh, L Tian, EM McCormick, ...
The American Journal of Human Genetics 99 (4), 802-816, 2016
1552016
Neural differentiation and incorporation of bone marrow-derived multipotent adult progenitor cells after single cell transplantation into blastocyst stage mouse embryos
CD Keene, XR Ortiz-Gonzalez, Y Jiang, DA Largaespada, CM Verfaillie, ...
Cell transplantation 12 (3), 201-213, 2003
1532003
Severity of cardiomyopathy associated with adenine nucleotide translocator-1 deficiency correlates with mtDNA haplogroup
KA Strauss, L DuBiner, M Simon, M Zaragoza, PP Sengupta, P Li, ...
Proceedings of the National Academy of Sciences 110 (9), 3453-3458, 2013
1072013
De novo GABRG2 mutations associated with epileptic encephalopathies
D Shen, CC Hernandez, W Shen, N Hu, A Poduri, B Shiedley, ...
Brain 140 (1), 49-67, 2016
962016
Neural induction of adult bone marrow and umbilical cord stem cells
XR Ortiz-Gonzalez, CD Keene, CM Verfaillie, WC Low
Current neurovascular research 1 (3), 207-213, 2004
962004
Modeling Monogenic Diabetes using Human ESCs Reveals Developmental and Metabolic Deficiencies Caused by Mutations in HNF1A
FL Cardenas-Diaz, C Osorio-Quintero, MA Diaz-Miranda, S Kishore, ...
Cell stem cell 25 (2), 273-289. e5, 2019
722019
Two unique TUBB3 mutations cause both CFEOM3 and malformations of cortical development
MC Whitman, C Andrews, WM Chan, MA Tischfield, SF Stasheff, ...
American Journal of Medical Genetics Part A 170 (2), 297-305, 2016
652016
De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder
LS Blok, SM Hiatt, KM Bowling, JW Prokop, KL Engel, JN Cochran, ...
Human genetics, 1-14, 2018
642018
IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients
C Mignot, AC McMahon, C Bar, PM Campeau, C Davidson, J Buratti, ...
Genetics in Medicine, 1, 2018
572018
Natural history and genotype‐phenotype correlations in 72 individuals with SATB2‐associated syndrome
YA Zarate, CL Smith‐Hicks, C Greene, MA Abbott, VM Siu, ...
American Journal of Medical Genetics Part A 176 (4), 925-935, 2018
572018
Missense Variants in RHOBTB2 Cause a Developmental and Epileptic Encephalopathy in Humans, and Altered Levels Cause Neurological Defects in Drosophila
J Straub, EDH Konrad, J Grüner, A Toutain, LA Bok, MT Cho, ...
The American Journal of Human Genetics, 2017
572017
βIV Spectrinopathies Cause Profound Intellectual Disability, Congenital Hypotonia, and Motor Axonal Neuropathy
CC Wang, XR Ortiz-González, SW Yum, SM Gill, A White, E Kelter, ...
The American Journal of Human Genetics, 2018
562018
Recessive Inactivating Mutations in TBCK, Encoding a Rab GTPase-Activating Protein, Cause Severe Infantile Syndromic Encephalopathy
JX Chong, V Caputo, IG Phelps, L Stella, L Worgan, JC Dempsey, ...
The American Journal of Human Genetics 98 (4), 772-781, 2016
542016
NIPBL+/− haploinsufficiency reveals a constellation of transcriptome disruptions in the pluripotent and cardiac states
JA Mills, PS Herrera, M Kaur, L Leo, D McEldrew, JA Tintos-Hernandez, ...
Scientific reports 8 (1), 1056, 2018
372018
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