Xilma R. Ortiz-Gonzalez, Ph.D. - Publications

Affiliations: 
University of Minnesota, Twin Cities, Minneapolis, MN 
Area:
Stem cells

18 high-probability publications. We are testing a new system for linking publications to authors. You can help! If you notice any inaccuracies, please sign in and mark papers as correct or incorrect matches. If you identify any major omissions or other inaccuracies in the publication list, please let us know.

Year Citation  Score
2019 Gustafson MA, McCormick EM, Perera L, Longley MJ, Bai R, Kong J, Dulik M, Shen L, Goldstein AC, McCormack SE, Laskin BL, Leroy BP, Ortiz-Gonzalez XR, Ellington MG, Copeland WC, et al. 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. Plos One. 14: e0221829. PMID 31479473 DOI: 10.1371/Journal.Pone.0221829  0.311
2019 Cardenas-Diaz FL, Osorio-Quintero C, Diaz-Miranda MA, Kishore S, Leavens K, Jobaliya C, Stanescu D, Ortiz-Gonzalez X, Yoon C, Chen CS, Haliyur R, Brissova M, Powers AC, French DL, Gadue P. Modeling Monogenic Diabetes using Human ESCs Reveals Developmental and Metabolic Deficiencies Caused by Mutations in HNF1A. Cell Stem Cell. 25: 273-289.e5. PMID 31374199 DOI: 10.1016/J.Stem.2019.07.007  0.34
2019 Beck DB, Subramanian T, Vijayalingam S, Ezekiel UR, Donkervoort S, Yang ML, Dubbs HA, Ortiz-Gonzalez XR, Lakhani S, Segal D, Au M, Graham JM, Verma S, Waggoner D, Shinawi M, et al. A pathogenic CtBP1 missense mutation causes altered cofactor binding and transcriptional activity. Neurogenetics. PMID 31041561 DOI: 10.1007/S10048-019-00578-1  0.33
2018 Blackburn PR, Chacon-Camacho OF, Ortiz-González XR, Reyes M, Lopez-Uriarte GA, Zarei S, Bhoj EJ, Perez-Solorzano S, Vaubel RA, Murphree MI, Nava J, Cortes-Gonzalez V, Parisi JE, Villanueva-Mendoza C, Tirado-Torres IG, et al. 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. PMID 30450772 DOI: 10.1002/Ajmg.A.40644  0.322
2018 Snijders Blok L, Hiatt SM, Bowling KM, Prokop JW, Engel KL, Cochran JN, Bebin EM, Bijlsma EK, Ruivenkamp CAL, Terhal P, Simon MEH, Smith R, Hurst JA, McLaughlin H, ... ... Ortiz-Gonzalez XR, et al. De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder. Human Genetics. PMID 29740699 DOI: 10.1007/S00439-018-1887-Y  0.316
2018 Mills JA, Herrera PS, Kaur M, Leo L, McEldrew D, Tintos-Hernandez JA, Rajagopalan R, Gagne A, Zhang Z, Ortiz-Gonzalez XR, Krantz ID. NIPBL+/- haploinsufficiency reveals a constellation of transcriptome disruptions in the pluripotent and cardiac states. Scientific Reports. 8: 1056. PMID 29348408 DOI: 10.1038/S41598-018-19173-9  0.335
2017 Straub J, Konrad EDH, Grüner J, Toutain A, Bok LA, Cho MT, Crawford HP, Dubbs H, Douglas G, Jobling R, Johnson D, Krock B, Mikati MA, Nesbitt A, Nicolai J, ... ... Ortiz-Gonzalez XR, et al. 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. PMID 29276004 DOI: 10.1016/J.Ajhg.2017.11.008  0.305
2016 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, et al. De novo GABRG2 mutations associated with epileptic encephalopathies. Brain : a Journal of Neurology. PMID 27864268 DOI: 10.1093/Brain/Aww272  0.329
2016 Li D, Yuan H, Ortiz-Gonzalez XR, Marsh ED, Tian L, McCormick EM, Kosobucki GJ, Chen W, Schulien AJ, Chiavacci R, Tankovic A, Naase C, Brueckner F, von Stülpnagel-Steinbeis C, Hu C, et al. GRIN2D Recurrent De Novo Dominant Mutation Causes a Severe Epileptic Encephalopathy Treatable with NMDA Receptor Channel Blockers. American Journal of Human Genetics. PMID 27616483 DOI: 10.1016/J.Ajhg.2016.07.013  0.309
2016 Chong JX, Caputo V, Phelps IG, Stella L, Worgan L, Dempsey JC, Nguyen A, Leuzzi V, Webster R, Pizzuti A, Marvin CT, Ishak GE, Ardern-Holmes S, Richmond Z, ... ... Ortiz-Gonzalez XR, et al. Recessive Inactivating Mutations in TBCK, Encoding a Rab GTPase-Activating Protein, Cause Severe Infantile Syndromic Encephalopathy. American Journal of Human Genetics. PMID 27040692 DOI: 10.1016/J.Ajhg.2016.01.016  0.326
2015 Whitman MC, Andrews C, Chan WM, Tischfield MA, Stasheff SF, Brancati F, Ortiz-Gonzalez X, Nuovo S, Garaci F, MacKinnon SE, Hunter DG, Grant PE, Engle EC. Two unique TUBB3 mutations cause both CFEOM3 and malformations of cortical development. American Journal of Medical Genetics. Part A. PMID 26639658 DOI: 10.1002/Ajmg.A.37362  0.326
2015 Tanaka AJ, Cho MT, Millan F, Juusola J, Retterer K, Joshi C, Niyazov D, Garnica A, Gratz E, Deardorff M, Wilkins A, Ortiz-Gonzalez X, Mathews K, Panzer K, Brilstra E, et al. Mutations in SPATA5 Are Associated with Microcephaly, Intellectual Disability, Seizures, and Hearing Loss. American Journal of Human Genetics. 97: 457-64. PMID 26299366 DOI: 10.1016/J.Ajhg.2015.07.014  0.327
2007 Jiang Y, Jahagirdar BN, Reinhardt RL, Schwartz RE, Keene CD, Ortiz-Gonzalez XR, Reyes M, Lenvik T, Lund T, Blackstad M, Du J, Aldrich S, Lisberg A, Low WC, Largaespada DA, et al. Erratum: Pluripotency of mesenchymal stem cells derived from adult marrow Nature. 447: 880-881. DOI: 10.1038/Nature05812  0.474
2006 Burns TC, Ortiz-González XR, Gutiérrez-Pérez M, Keene CD, Sharda R, Demorest ZL, Jiang Y, Nelson-Holte M, Soriano M, Nakagawa Y, Luquin MR, Garcia-Verdugo JM, Prósper F, Low WC, Verfaillie CM. Thymidine analogs are transferred from prelabeled donor to host cells in the central nervous system after transplantation: a word of caution. Stem Cells (Dayton, Ohio). 24: 1121-7. PMID 16373692 DOI: 10.1634/Stemcells.2005-0463  0.623
2006 Burns TC, Ortiz-González XR, Pérez MG, Keene CD, Demorest ZL, Nakagawa Y, Garcia-Verdugo JM, Prosper F, Low WC, Verfaillie CM. BrdU is not a reliable label for transplanted cells in the central nervous system Experimental Neurology. 198: 562. DOI: 10.1016/J.Expneurol.2006.02.026  0.53
2004 Ortiz-Gonzalez XR, Keene CD, Verfaillie CM, Low WC. Neural induction of adult bone marrow and umbilical cord stem cells. Current Neurovascular Research. 1: 207-13. PMID 16181071 DOI: 10.2174/1567202043362342  0.539
2003 Keene CD, Ortiz-Gonzalez XR, Jiang Y, Largaespada DA, Verfaillie CM, Low WC. Neural differentiation and incorporation of bone marrow-derived multipotent adult progenitor cells after single cell transplantation into blastocyst stage mouse embryos. Cell Transplantation. 12: 201-13. PMID 12797375 DOI: 10.3727/000000003108746768  0.527
2002 Jiang Y, Jahagirdar BN, Reinhardt RL, Schwartz RE, Keene CD, Ortiz-Gonzalez XR, Reyes M, Lenvik T, Lund T, Blackstad M, Du J, Aldrich S, Lisberg A, Low WC, Largaespada DA, et al. Pluripotency of mesenchymal stem cells derived from adult marrow. Nature. 418: 41-9. PMID 12077603 DOI: 10.1038/Nature00870  0.561
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