Xilma R Ortiz-Gonzalez, MD, PhD
机构: Children's Hospital of Philadelphia, University of Pennsylvania Perelman School of Medicine
每年引用次数
引用次数
引用: 11,532
H-指数: 28
I10-指数 : 38
出版物: 76
IPSC-derived human cardiomyocytes recapitulate features of mitochondrial hypertrophic cardiomyopathy due to ANT1-deficiency
Xilma Ortiz-Gonzalez , Jesus A. Tintos , Carmen Colas , Benjamin Prosser
Mitochondrion 24
2015
Two unique TUBB3 mutations cause both CFEOM3 and malformations of cortical development.
Mary C. Whitman , Caroline Andrews , Wai-Man Chan , Max A. Tischfield
American Journal of Medical Genetics Part A 170 ( 2) 297 -305
27
2016
Circadian clock proteins regulate neuronal redox homeostasis and neurodegeneration
Erik S. Musiek , Miranda M. Lim , Guangrui Yang , Adam Q. Bauer
Journal of Clinical Investigation 123 ( 12) 5389 -5400
239
2013
Neural induction of adult bone marrow and umbilical cord stem cells.
Xilma Ortiz-Gonzalez , C. Keene , Catherine Verfaillie , Walter Low
Current Neurovascular Research 1 ( 3) 207 -213
60
2004
Mutations in SPATA5 Are Associated with Microcephaly, Intellectual Disability, Seizures, and Hearing Loss
Akemi J. Tanaka , Megan T. Cho , Francisca Millan , Jane Juusola
American Journal of Human Genetics 97 ( 3) 457 -464
105
2015
Obituary: Jessica Anne Panzer, MD, PhD
Xilma Ortiz-Gonzalez , Ethan M. Goldberg , Brenda Banwell
Pediatric Neurology 75 4 -5
2017
Modeling Monogenic Diabetes using Human ESCs Reveals Developmental and Metabolic Deficiencies Caused by Mutations in HNF1A
Diana Stanescu , Xilma Ortiz-Gonzalez , Christine Yoon , Christopher S. Chen
Cell Stem Cell 25 ( 2) 273
59
2019
Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations
Lance H Rodan , Rebecca C Spillmann , Harley T Kurata , Shawn M Lamothe
Genetics in Medicine 1 -11
31
2021
SPTBN4 Disorder
Xilma Ortiz-Gonzalez , Klaas Wierenga
5
2020
Unraveling the Role of TBCK in Human iPSC-Derived Neurons: Mitochondrial Dysfunction Due to mRNA Transport Defects as Mechanism of Neurodegeneration?
Marco Flores-Mendez , Jesus A Tintos-Hernandez , Xilma Ortiz-Gonzalez
ANNALS OF NEUROLOGY 92 S171 -S171
2022
Aberrant Mitophagy In The Pediatric Neurodegenerative Syndrome TBCKE (P4. 6-064)
Jesus Tintos-Hernandez , Kierstin Keller , Douglas Wallace , Xilma Ortiz-Gonzalez
Neurology 92 ( 15 Supplement) P4. 6 -064
2019
Additional cases with TBCK mutations causing neurodevelopmental disorders
Simone L Ardern-Holmes , Xilma Ortiz-Gonzalez , Dan Doherty
2018
ANT1-deficiency results in aberrant cardiac calcium homeostasis and sarcomeric disruption in human induced pluripotent stem cell derived cardiomyocytes
Xilma Ortiz-Gonzalez , Jesus A Tintos-Hernandez , Carmen Colas , Douglas C Wallace
MITOCHONDRION 31 116 -116
2016
Two NMDA Receptor Mutations in Transmembrane Domain M3 Related to Early-Onset Seizures
Stephen F Traynelis , Marni J Falk , Marc Yudkoff , Dong Li
ANNALS OF NEUROLOGY 76 S32 -S32
2014
THE AJMG SEQUENCE: DECODING NEWS AND TRENDS FOR THE MEDICAL GENETICS COMMUNITY BY DEBORAH LEVENSON
Mary C Whitman , Caroline Andrews , Wai-Man Chan , Max A Tischfield
SPATA5 mutations identified by whole exome sequencing cause a novel autosomal recessive defect of mitochondrial morphogenesis characterized by microcephaly, intellectual disability, seizures, and hearing loss
Kristin G Monaghan , Akemi J Tanaka , Megan T Cho , Francisca Milian
MITOCHONDRION 31 101 -102
2016
Assessing the Clinical and Treatment Landscape of Genetic Epilepsies Through 3,760 Individuals (S24. 007)
Julie Xian , Michael Kaufman , Sarah Ruggiero , Mark Ramos
Neurology 102 ( 17_supplement_1) 6957 -6957
2024
Correction: Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations
Lance H Rodan , Rebecca C Spillmann , Harley T Kurata , Shawn M Lamothe
Genetics in Medicine 23 ( 10) 2016 -2016
1
2021
Thymidine analogs are transferred from prelabeled donor to host cells in the central nervous system after transplantation : A word of caution
Terry C. Burns , Xilma R. Ortiz-González , María Gutiérrez-Pérez , C. Dirk Keene
Stem Cells 24 ( 4) 1121 -1127
167
2006
βIV Spectrinopathies Cause Profound Intellectual Disability, Congenital Hypotonia, and Motor Axonal Neuropathy
Chih-Chuan Wang , Xilma R. Ortiz-González , Sabrina W. Yum , Sara M. Gill
American Journal of Human Genetics 102 ( 6) 1158 -1168
28
2018