Christopher R Pierson

Christopher R Pierson

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Christopher R Pierson

Christopher R Pierson

Publications by authors named "Christopher R Pierson"

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GOPC-ROS1 Fusion Due to Microdeletion at 6q22 Is an Oncogenic Driver in a Subset of Pediatric Gliomas and Glioneuronal Tumors.

J Neuropathol Exp Neurol 2019 Sep 16. Epub 2019 Sep 16.

Department of Pathology, State University of New York, Upstate Medical University, Syracuse, New York (TER, KM); Department of Pediatrics (KT); Department of Pathology (VV, JS, CMW, GJ, MS), New York University Langone Health, New York, New York; Department of Pathology & Laboratory Medicine, Nationwide Children's Hospital and The Ohio State University (CRP, CEC, DRB); Department of Neurological Surgery, Nationwide Children's Hospital (JRL); Department of Hematology, Oncology, and Bone Marrow Transplant, Nationwide Children's Hospital and The Ohio State University (MSA); Nationwide Children's Hospital, The Institute for Genomic Medicine (KMS, CEC), Columbus, Ohio; Department of Neurosurgery (ZT-S); Department of Pediatrics (MAC), State University of New York, Upstate Medical University, Syracuse, New York; Waters Center for Children's Cancer and Blood Disorders, State University of New York, Upstate Cancer Center, Syracuse, New York (MAC).

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http://dx.doi.org/10.1093/jnen/nlz093DOI Listing
September 2019

Expanding the clinical history associated with syndromic Klippel-Feil: A unique case of comorbidity with medulloblastoma.

Eur J Med Genet 2019 Aug 10;62(8):103701. Epub 2019 Jun 10.

Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, OH, USA; Department of Pediatrics, The Ohio State University College of Medicine, Columbus, OH, USA; Department of Pathology, The Ohio State University College of Medicine, Columbus, OH, USA.

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http://dx.doi.org/10.1016/j.ejmg.2019.103701DOI Listing
August 2019

Targeting Upstream Kinases of STAT3 in Human Medulloblastoma Cells.

Curr Cancer Drug Targets 2019 ;19(7):571-582

Department of Biochemistry and Molecular Biology, School of Medicine, University of Maryland, Baltimore, MD 21201, United States.

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http://dx.doi.org/10.2174/1568009618666181016165604DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6533162PMC
January 2019

Germinoma Involving the Retina: An Unusual Presentation of Recurrent Intracranial Mixed Germ Cell Tumor.

World Neurosurg 2019 Jan 7. Epub 2019 Jan 7.

The Department of Pathology & Laboratory Medicine, Nationwide Children's Hospital, Columbus, OH 43205 and The Department of Pathology, The Ohio State University, College of Medicine, Columbus, OH 43210 USA.

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http://dx.doi.org/10.1016/j.wneu.2018.12.143DOI Listing
January 2019

A Novel De Novo Heterozygous SCN4a Mutation Causing Congenital Myopathy, Myotonia and Multiple Congenital Anomalies.

J Neuromuscul Dis 2019 ;6(4):467-473

Center for Gene Therapy, The Research Institute at Nationwide Children's Hospital, Columbus, OH, USA.

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http://dx.doi.org/10.3233/JND-190425DOI Listing
January 2019

Intraocular Medulloepithelioma: AIRP Best Cases in Radiologic-Pathologic Correlation.

Radiographics 2018 Jan-Feb;38(1):194-199

From the Department of Radiology, University of Toledo Medical Center, 3000 Arlington Ave, Room 1192, Toledo, OH 43614 (O.Z.A.); Department of Pathology and Laboratory Medicine (M.S., C.R.P.), Department of Ophthalmology and Visual Sciences (D.G.S.), and Department of Radiology (L.C.M.), Nationwide Children's Hospital, Columbus, Ohio; and Department of Ophthalmology and Visual Sciences (J.R., D.G.S.), Department of Pathology (C.R.P.), and Department of Biomedical Education, Division of Anatomy (C.R.P.), Ohio State University Wexner Medical Center, Columbus, Ohio.

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http://dx.doi.org/10.1148/rg.2018170160DOI Listing
August 2018

Hepcidin, an Iron Regulatory Hormone of Innate Immunity, is Differentially Expressed in Premature Fetuses with Early-Onset Neonatal Sepsis.

Am J Perinatol 2018 07 2;35(9):865-872. Epub 2018 Feb 2.

Center for Perinatal Research, The Research Institute at Nationwide Children's Hospital, Columbus, Ohio.

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http://dx.doi.org/10.1055/s-0038-1626711DOI Listing
July 2018

Blocking interleukin-6 signaling inhibits cell viability/proliferation, glycolysis, and colony forming activity of human medulloblastoma cells.

Int J Oncol 2018 Feb 22;52(2):571-578. Epub 2017 Nov 22.

Department of Biochemistry and Molecular Biology, School of Medicine, University of Maryland, Baltimore, MD 21201, USA.

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http://dx.doi.org/10.3892/ijo.2017.4211DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5741369PMC
February 2018

Acanthamoeba granulomatous amoebic encephalitis after pediatric hematopoietic stem cell transplant.

Pediatr Transplant 2017 Dec 17;21(8). Epub 2017 Sep 17.

Department of Pediatrics, Division of Hematology/Oncology/BMT, Nationwide Children's Hospital and The Ohio State University, Columbus, OH, USA.

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http://dx.doi.org/10.1111/petr.13060DOI Listing
December 2017

Treatment-Related Noncontiguous Radiologic Changes in Children With Diffuse Intrinsic Pontine Glioma Treated With Expanded Irradiation Fields and Antiangiogenic Therapy.

Int J Radiat Oncol Biol Phys 2017 12 24;99(5):1295-1305. Epub 2017 Aug 24.

Department of Oncology, St Jude Children's Research Hospital, Memphis, Tennessee; Department of Pediatrics, University of Tennessee Health Science Center, Memphis, Tennessee.

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http://dx.doi.org/10.1016/j.ijrobp.2017.08.021DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5889052PMC
December 2017

Long-term effects of systemic gene therapy On gait in a canine model of myotubular myopathy.

Muscle Nerve 2017 11 23;56(5):839-840. Epub 2017 May 23.

Nationwide Children's Hospital, Department of Pathology and Laboratory Medicine, The Ohio State University College of Medicine, J0359, 700 Children's Drive, Columbus, Ohio, 43205, USA.

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http://dx.doi.org/10.1002/mus.25681DOI Listing
November 2017

Immune profiling of NF1-associated tumors reveals histologic subtype distinctions and heterogeneity: implications for immunotherapy.

Oncotarget 2017 Oct 30;8(47):82037-82048. Epub 2017 May 30.

Division of Hematology, Oncology, Blood and Marrow Transplant, Department of Pediatrics, Nationwide Children's Hospital, Columbus, Ohio, USA.

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http://dx.doi.org/10.18632/oncotarget.18301DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5669868PMC
October 2017

Sporadic pediatric meningiomas: a neuroradiological and neuropathological study of 15 cases.

J Neurosurg Pediatr 2017 Aug 26;20(2):141-148. Epub 2017 May 26.

Departments of 1 Neurological Surgery.

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http://dx.doi.org/10.3171/2017.3.PEDS16502DOI Listing
August 2017

Cerebellopontine angle tumors in young children, displaying cranial nerve deficits, and restricted diffusion on diffusion-weighted imaging: a new clinical triad for atypical teratoid/rhabdoid tumors.

Childs Nerv Syst 2017 May 22;33(5):833-838. Epub 2017 Mar 22.

Division of Pediatric Neurosurgery, Nationwide Children's Hospital, 700 Children's Drive, Columbus, OH, 43205, USA.

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http://dx.doi.org/10.1007/s00381-017-3384-3DOI Listing
May 2017

Morphological and molecular features of astroblastoma, including BRAFV600E mutations, suggest an ontological relationship to other cortical-based gliomas of children and young adults.

Neuro Oncol 2017 01 14;19(1):31-42. Epub 2016 Jul 14.

Department of Pathology, The Ohio State University, Columbus, Ohio (N.L.L., A.U., C.R.P., K.K., K.Z., N.M., G.Z., W.Z.); Department of Pathology and Laboratory Medicine, Indiana University, Indianapolis, Indiana (E.M.H., J.M.B.); Department of Pathology, Vanderbilt University, Nashville, Tennessee (B.C.M.); Department of Pathology and Laboratory Medicine, Emory University, Atlanta, Georgia (M.J.S.); Department of Pathology, Duke University, Durham, North Carolina (R.E.M., E.S.L.); Institute of Neuropathology, University Hospital Münster, Germany (W.P.); Institute for Neuropathology, University Hospital of Zurich, Switzerland (E.J.R.); Department of Pathology, The University of Texas Southwestern, Dallas, Texas (M.-M.G., J.M.R.); Department of Pathology, Case Western Reserve University, Cleveland, Ohio (M.C., M.L.C.); Department of Anatomic Pathology, Beaumont Hospital, Royal Oak, Michigan (M.S.D.); Department of Pathology and Laboratory Medicine, Nationwide Children's Hospital, Columbus, Ohio (C.R.P.); Department of Pathology, University of Illinois, Peoria, Illinois (S.E.M.); Department of Pathology, Sheikh Khalifa Medical City, Abu Dhabi, UAE (M.A.A.-A.); Department of Family and Community Medicine, Contra Costa Regional Medical Center, Martinez, California (T.D.L.).

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http://dx.doi.org/10.1093/neuonc/now118DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5193018PMC
January 2017

SHH desmoplastic/nodular medulloblastoma and Gorlin syndrome in the setting of Down syndrome: case report, molecular profiling, and review of the literature.

Childs Nerv Syst 2016 Dec 21;32(12):2439-2446. Epub 2016 Jul 21.

The Divisions of Hematology/Oncology/BMT, Neurosurgery and Neuropathology, the Departments of Pediatrics, Surgery and Pathology, Nationwide Children's Hospital and The Ohio State University, Columbus, OH, USA.

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http://link.springer.com/10.1007/s00381-016-3185-0
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http://dx.doi.org/10.1007/s00381-016-3185-0DOI Listing
December 2016

Neuropathology Associated With Diffuse Excessive High Signal Intensity Abnormalities on Magnetic Resonance Imaging in Very Preterm Infants.

Pediatr Neurol 2016 12 21;65:78-85. Epub 2016 Jul 21.

Department of Radiology, Nationwide Children's Hospital, Columbus, Ohio.

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https://linkinghub.elsevier.com/retrieve/pii/S08878994153024
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http://dx.doi.org/10.1016/j.pediatrneurol.2016.07.006DOI Listing
December 2016

Preterm birth and cerebellar neuropathology.

Semin Fetal Neonatal Med 2016 10 5;21(5):305-11. Epub 2016 May 5.

Nationwide Children's Hospital, Department of Pathology and Laboratory Medicine, The Ohio State University College of Medicine, Columbus, OH, USA.

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http://dx.doi.org/10.1016/j.siny.2016.04.006DOI Listing
October 2016

Syngeneic Myoblast Transplantation Improves Muscle Function in a Murine Model of X-Linked Myotubular Myopathy.

Cell Transplant 2015 25;24(9):1887-900. Epub 2014 Jul 25.

Wake Forest Institute for Regenerative Medicine, Wake Forest University Health Sciences, Medical Center Boulevard, Winston-Salem, NC, USA.

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http://dx.doi.org/10.3727/096368914X683494DOI Listing
June 2016

Characterization of MHC Class I and β-2-Microglobulin Expression in Pediatric Solid Malignancies to Guide Selection of Immune-Based Therapeutic Trials.

Pediatr Blood Cancer 2016 Apr 17;63(4):618-26. Epub 2015 Nov 17.

Division of Hematology/Oncology/Blood and Marrow Transplant, Nationwide Children's Hospital, Columbus, Ohio.

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http://dx.doi.org/10.1002/pbc.25842DOI Listing
April 2016

A novel, clinically relevant use of a piglet model to study the effects of anesthetics on the developing brain.

Clin Transl Med 2016 Mar 12;5(1). Epub 2016 Jan 12.

Department of Anesthesiology, The Ohio State University College of Medicine, 410 W 10th Ave, Columbus, OH, 43210, USA.

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http://dx.doi.org/10.1186/s40169-015-0079-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4710621PMC
March 2016

Oncolytic measles virus efficacy in murine xenograft models of atypical teratoid rhabdoid tumors.

Neuro Oncol 2015 Dec 2;17(12):1568-77. Epub 2015 Apr 2.

Center for Childhood Cancer and Blood Diseases, Research Institute at Nationwide Children's Hospital, Columbus, Ohio (A.W.S., B.H.); Nationwide Children's Hospital Department of Pathology and Laboratory Medicine and Departments of Pathology and Anatomy, The Ohio State University College of Medicine, Columbus, Ohio (C.R.P.); Animal Resources Core, Research Institute at Nationwide Children's Hospital, Columbus, Ohio (T.A.S.); Department of Neurological Surgery and Pediatrics, University of California, San Francisco, California (C.R.); Department of Neurosurgery, Johns Hopkins University, Baltimore, Maryland (E.M.J.).

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http://dx.doi.org/10.1093/neuonc/nov058DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4633925PMC
December 2015

Primary Meningeal Pleomorphic Xanthoastrocytoma With Anaplastic Features: A Report of 2 Cases, One With BRAF(V600E) Mutation and Clinical Response to the BRAF Inhibitor Dabrafenib.

J Neuropathol Exp Neurol 2015 Oct;74(10):960-9

From the Departments of Pathology (AU, CRP, CAK, WZ, NLL), Anatomy (CRP), Neurosurgery (KH, MA), and Neuroscience (NLL), and Division of Neuro-oncology (VKP), The Ohio State University; and Department of Pathology and Laboratory Medicine, Nationwide Children's Hospital (CRP), Columbus Ohio; and Departments of Pathology (ONK, TGM, NLL) and Neurosurgery (JR), Henry Ford Hospital, Detroit, Michigan.

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http://dx.doi.org/10.1097/NEN.0000000000000240DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4777522PMC
October 2015

A multi-resolution textural approach to diagnostic neuropathology reporting.

J Neurooncol 2015 Sep 9;124(3):393-402. Epub 2015 Aug 9.

Department of Biomedical Informatics, The Ohio State University, Columbus, OH, USA.

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http://dx.doi.org/10.1007/s11060-015-1872-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4782607PMC
September 2015

Comprehensive, Integrative Genomic Analysis of Diffuse Lower-Grade Gliomas.

Authors:
Daniel J Brat Roel G W Verhaak Kenneth D Aldape W K Alfred Yung Sofie R Salama Lee A D Cooper Esther Rheinbay C Ryan Miller Mark Vitucci Olena Morozova A Gordon Robertson Houtan Noushmehr Peter W Laird Andrew D Cherniack Rehan Akbani Jason T Huse Giovanni Ciriello Laila M Poisson Jill S Barnholtz-Sloan Mitchel S Berger Cameron Brennan Rivka R Colen Howard Colman Adam E Flanders Caterina Giannini Mia Grifford Antonio Iavarone Rajan Jain Isaac Joseph Jaegil Kim Katayoon Kasaian Tom Mikkelsen Bradley A Murray Brian Patrick O'Neill Lior Pachter Donald W Parsons Carrie Sougnez Erik P Sulman Scott R Vandenberg Erwin G Van Meir Andreas von Deimling Hailei Zhang Daniel Crain Kevin Lau David Mallery Scott Morris Joseph Paulauskis Robert Penny Troy Shelton Mark Sherman Peggy Yena Aaron Black Jay Bowen Katie Dicostanzo Julie Gastier-Foster Kristen M Leraas Tara M Lichtenberg Christopher R Pierson Nilsa C Ramirez Cynthia Taylor Stephanie Weaver Lisa Wise Erik Zmuda Tanja Davidsen John A Demchok Greg Eley Martin L Ferguson Carolyn M Hutter Kenna R Mills Shaw Bradley A Ozenberger Margi Sheth Heidi J Sofia Roy Tarnuzzer Zhining Wang Liming Yang Jean Claude Zenklusen Brenda Ayala Julien Baboud Sudha Chudamani Mark A Jensen Jia Liu Todd Pihl Rohini Raman Yunhu Wan Ye Wu Adrian Ally J Todd Auman Miruna Balasundaram Saianand Balu Stephen B Baylin Rameen Beroukhim Moiz S Bootwalla Reanne Bowlby Christopher A Bristow Denise Brooks Yaron Butterfield Rebecca Carlsen Scott Carter Lynda Chin Andy Chu Eric Chuah Kristian Cibulskis Amanda Clarke Simon G Coetzee Noreen Dhalla Tim Fennell Sheila Fisher Stacey Gabriel Gad Getz Richard Gibbs Ranabir Guin Angela Hadjipanayis D Neil Hayes Toshinori Hinoue Katherine Hoadley Robert A Holt Alan P Hoyle Stuart R Jefferys Steven Jones Corbin D Jones Raju Kucherlapati Phillip H Lai Eric Lander Semin Lee Lee Lichtenstein Yussanne Ma Dennis T Maglinte Harshad S Mahadeshwar Marco A Marra Michael Mayo Shaowu Meng Matthew L Meyerson Piotr A Mieczkowski Richard A Moore Lisle E Mose Andrew J Mungall Angeliki Pantazi Michael Parfenov Peter J Park Joel S Parker Charles M Perou Alexei Protopopov Xiaojia Ren Jeffrey Roach Thaís S Sabedot Jacqueline Schein Steven E Schumacher Jonathan G Seidman Sahil Seth Hui Shen Janae V Simons Payal Sipahimalani Matthew G Soloway Xingzhi Song Huandong Sun Barbara Tabak Angela Tam Donghui Tan Jiabin Tang Nina Thiessen Timothy Triche David J Van Den Berg Umadevi Veluvolu Scot Waring Daniel J Weisenberger Matthew D Wilkerson Tina Wong Junyuan Wu Liu Xi Andrew W Xu Lixing Yang Travis I Zack Jianhua Zhang B Arman Aksoy Harindra Arachchi Chris Benz Brady Bernard Daniel Carlin Juok Cho Daniel DiCara Scott Frazer Gregory N Fuller JianJiong Gao Nils Gehlenborg David Haussler David I Heiman Lisa Iype Anders Jacobsen Zhenlin Ju Sol Katzman Hoon Kim Theo Knijnenburg Richard Bailey Kreisberg Michael S Lawrence William Lee Kalle Leinonen Pei Lin Shiyun Ling Wenbin Liu Yingchun Liu Yuexin Liu Yiling Lu Gordon Mills Sam Ng Michael S Noble Evan Paull Arvind Rao Sheila Reynolds Gordon Saksena Zack Sanborn Chris Sander Nikolaus Schultz Yasin Senbabaoglu Ronglai Shen Ilya Shmulevich Rileen Sinha Josh Stuart S Onur Sumer Yichao Sun Natalie Tasman Barry S Taylor Doug Voet Nils Weinhold John N Weinstein Da Yang Kosuke Yoshihara Siyuan Zheng Wei Zhang Lihua Zou Ty Abel Sara Sadeghi Mark L Cohen Jenny Eschbacher Eyas M Hattab Aditya Raghunathan Matthew J Schniederjan Dina Aziz Gene Barnett Wendi Barrett Darell D Bigner Lori Boice Cathy Brewer Chiara Calatozzolo Benito Campos Carlos Gilberto Carlotti Timothy A Chan Lucia Cuppini Erin Curley Stefania Cuzzubbo Karen Devine Francesco DiMeco Rebecca Duell J Bradley Elder Ashley Fehrenbach Gaetano Finocchiaro William Friedman Jordonna Fulop Johanna Gardner Beth Hermes Christel Herold-Mende Christine Jungk Ady Kendler Norman L Lehman Eric Lipp Ouida Liu Randy Mandt Mary McGraw Roger Mclendon Christopher McPherson Luciano Neder Phuong Nguyen Ardene Noss Raffaele Nunziata Quinn T Ostrom Cheryl Palmer Alessandro Perin Bianca Pollo Alexander Potapov Olga Potapova W Kimryn Rathmell Daniil Rotin Lisa Scarpace Cathy Schilero Kelly Senecal Kristen Shimmel Vsevolod Shurkhay Suzanne Sifri Rosy Singh Andrew E Sloan Kathy Smolenski Susan M Staugaitis Ruth Steele Leigh Thorne Daniela P C Tirapelli Andreas Unterberg Mahitha Vallurupalli Yun Wang Ronald Warnick Felicia Williams Yingli Wolinsky Sue Bell Mara Rosenberg Chip Stewart Franklin Huang Jonna L Grimsby Amie J Radenbaugh Jianan Zhang
June 2015

Gene therapy in myotubular myopathy: promising progress and future directions.

Ann Transl Med 2015 Apr;3(5):61

Department of Pathology and Laboratory Medicine, Nationwide Children's Hospital and the Department of Pathology and Division of Anatomy, The Ohio State University College of Medicine, Columbus, OH, USA.

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http://dx.doi.org/10.3978/j.issn.2305-5839.2015.01.11DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4402603PMC
April 2015

EphB2 activation is required for ependymoma development as well as inhibits differentiation and promotes proliferation of the transformed cell.

Sci Rep 2015 Mar 24;5:9248. Epub 2015 Mar 24.

1] Center For Childhood Cancer and Blood Diseases, The Research Institute at Nationwide Children's Hospital [2] Department of Pediatrics, The Ohio State University College of Medicine.

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http://dx.doi.org/10.1038/srep09248DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4371088PMC
March 2015

Reliability and repeatability of quantitative tractography methods for mapping structural white matter connectivity in preterm and term infants at term-equivalent age.

PLoS One 2014 24;9(1):e85807. Epub 2014 Jan 24.

Center for Perinatal Research, The Research Institute at Nationwide Children's Hospital, Columbus, Ohio, United States of America ; Departments of Pediatrics and Pathology, The Ohio State University College of Medicine, Columbus, Ohio, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0085807PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3901659PMC
October 2014

SPEG interacts with myotubularin, and its deficiency causes centronuclear myopathy with dilated cardiomyopathy.

Am J Hum Genet 2014 Aug 31;95(2):218-26. Epub 2014 Jul 31.

Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA; Manton Center for Orphan Disease Research, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2014.07.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4129406PMC
August 2014

Thoracolumbar spinal vascular malformation as a rare cause of isolated intraventricular hemorrhage.

J Neurosurg Pediatr 2014 Jul 2;14(1):12-5. Epub 2014 May 2.

Division of Pediatric Neurosurgery, Nationwide Children's Hospital;

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http://dx.doi.org/10.3171/2014.3.PEDS13565DOI Listing
July 2014

Prognostic significance of telomere maintenance mechanisms in pediatric high-grade gliomas.

J Neurooncol 2014 Mar 30;117(1):67-76. Epub 2014 Jan 30.

Division of Oncology, Cancer and Blood Diseases Institute, Cincinnati Children's Hospital Medical Center, MLC 7013, 3333 Burnet Ave, Cincinnati, OH, 45229, USA.

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http://dx.doi.org/10.1007/s11060-014-1374-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4261223PMC
March 2014

Treatment of medulloblastoma with oncolytic measles viruses expressing the angiogenesis inhibitors endostatin and angiostatin.

BMC Cancer 2014 Mar 19;14:206. Epub 2014 Mar 19.

The Center for Childhood Cancer and Blood Diseases, The Research Institute at Nationwide Children's Hospital, Columbus, Ohio 43205, USA.

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http://dx.doi.org/10.1186/1471-2407-14-206DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3995427PMC
March 2014

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge.

Authors:
Catherine A Brownstein Alan H Beggs Nils Homer Barry Merriman Timothy W Yu Katherine C Flannery Elizabeth T DeChene Meghan C Towne Sarah K Savage Emily N Price Ingrid A Holm Lovelace J Luquette Elaine Lyon Joseph Majzoub Peter Neupert David McCallie Peter Szolovits Huntington F Willard Nancy J Mendelsohn Renee Temme Richard S Finkel Sabrina W Yum Livija Medne Shamil R Sunyaev Ivan Adzhubey Christopher A Cassa Paul I W de Bakker Hatice Duzkale Piotr Dworzyński William Fairbrother Laurent Francioli Birgit H Funke Monica A Giovanni Robert E Handsaker Kasper Lage Matthew S Lebo Monkol Lek Ignaty Leshchiner Daniel G MacArthur Heather M McLaughlin Michael F Murray Tune H Pers Paz P Polak Soumya Raychaudhuri Heidi L Rehm Rachel Soemedi Nathan O Stitziel Sara Vestecka Jochen Supper Claudia Gugenmus Bernward Klocke Alexander Hahn Max Schubach Mortiz Menzel Saskia Biskup Peter Freisinger Mario Deng Martin Braun Sven Perner Richard J H Smith Janeen L Andorf Jian Huang Kelli Ryckman Val C Sheffield Edwin M Stone Thomas Bair E Ann Black-Ziegelbein Terry A Braun Benjamin Darbro Adam P DeLuca Diana L Kolbe Todd E Scheetz Aiden E Shearer Rama Sompallae Kai Wang Alexander G Bassuk Erik Edens Katherine Mathews Steven A Moore Oleg A Shchelochkov Pamela Trapane Aaron Bossler Colleen A Campbell Jonathan W Heusel Anne Kwitek Tara Maga Karin Panzer Thomas Wassink Douglas Van Daele Hela Azaiez Kevin Booth Nic Meyer Michael M Segal Marc S Williams Gerard Tromp Peter White Donald Corsmeier Sara Fitzgerald-Butt Gail Herman Devon Lamb-Thrush Kim L McBride David Newsom Christopher R Pierson Alexander T Rakowsky Aleš Maver Luca Lovrečić Anja Palandačić Borut Peterlin Ali Torkamani Anna Wedell Mikael Huss Andrey Alexeyenko Jessica M Lindvall Måns Magnusson Daniel Nilsson Henrik Stranneheim Fulya Taylan Christian Gilissen Alexander Hoischen Bregje van Bon Helger Yntema Marcel Nelen Weidong Zhang Jason Sager Lu Zhang Kathryn Blair Deniz Kural Michael Cariaso Greg G Lennon Asif Javed Saloni Agrawal Pauline C Ng Komal S Sandhu Shuba Krishna Vamsi Veeramachaneni Ofer Isakov Eran Halperin Eitan Friedman Noam Shomron Gustavo Glusman Jared C Roach Juan Caballero Hannah C Cox Denise Mauldin Seth A Ament Lee Rowen Daniel R Richards F Anthony San Lucas Manuel L Gonzalez-Garay C Thomas Caskey Yu Bai Ying Huang Fang Fang Yan Zhang Zhengyuan Wang Jorge Barrera Juan M Garcia-Lobo Domingo González-Lamuño Javier Llorca Maria C Rodriguez Ignacio Varela Martin G Reese Francisco M De La Vega Edward Kiruluta Michele Cargill Reece K Hart Jon M Sorenson Gholson J Lyon David A Stevenson Bruce E Bray Barry M Moore Karen Eilbeck Mark Yandell Hongyu Zhao Lin Hou Xiaowei Chen Xiting Yan Mengjie Chen Cong Li Can Yang Murat Gunel Peining Li Yong Kong Austin C Alexander Zayed I Albertyn Kym M Boycott Dennis E Bulman Paul M K Gordon A Micheil Innes Bartha M Knoppers Jacek Majewski Christian R Marshall Jillian S Parboosingh Sarah L Sawyer Mark E Samuels Jeremy Schwartzentruber Isaac S Kohane David M Margulies

Genome Biol 2014 Mar 25;15(3):R53. Epub 2014 Mar 25.

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http://dx.doi.org/10.1186/gb-2014-15-3-r53DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4073084PMC
March 2014

Perinatal inflammation results in decreased oligodendrocyte numbers in adulthood.

Life Sci 2014 Jan 28;94(2):164-71. Epub 2013 Nov 28.

Center for Perinatal Research at Nationwide Children's Hospital, Columbus, OH, United States; Department of Pediatrics, The Ohio State University, Columbus, OH, United States. Electronic address:

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http://dx.doi.org/10.1016/j.lfs.2013.11.015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3923532PMC
January 2014

Cribriform neuroepithelial tumor arising in the lateral ventricle.

Pediatr Dev Pathol 2013 Jul-Aug;16(4):301-7. Epub 2013 Mar 15.

Department of Pathology and Laboratory Medicine, Ohio State University College of Medicine, Columbus, OH, USA.

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http://journals.sagepub.com/doi/10.2350/12-12-1287-CR.1
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http://dx.doi.org/10.2350/12-12-1287-CR.1DOI Listing
October 2013

Phase II study of cilengitide in the treatment of refractory or relapsed high-grade gliomas in children: a report from the Children's Oncology Group.

Neuro Oncol 2013 Oct 5;15(10):1438-44. Epub 2013 Sep 5.

Corresponding Author: Tobey J. MacDonald, MD, Emory Children's Center, Aflac Cancer and Blood Disorders Center, 2015 Uppergate Drive NE, Suite 442, Atlanta, GA 30322.

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http://dx.doi.org/10.1093/neuonc/not058DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3779033PMC
October 2013

Cerebellar hemorrhagic injury in premature infants occurs during a vulnerable developmental period and is associated with wider neuropathology.

Acta Neuropathol Commun 2013 Oct 21;1:69. Epub 2013 Oct 21.

Department of Pathology & Laboratory Medicine, J0359 Nationwide Children's Hospital, 700 Children's Drive, Columbus, OH 43205, USA.

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http://dx.doi.org/10.1186/2051-5960-1-69DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3893422PMC
October 2013

Expression pattern of id proteins in medulloblastoma.

Pathol Oncol Res 2013 Jul 9;19(3):437-46. Epub 2013 Feb 9.

The Research Institute, Nationwide Children's Hospital, Columbus, OH, USA.

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http://dx.doi.org/10.1007/s12253-012-9599-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3826575PMC
July 2013

Enzyme replacement therapy rescues weakness and improves muscle pathology in mice with X-linked myotubular myopathy.

Hum Mol Genet 2013 Apr 9;22(8):1525-38. Epub 2013 Jan 9.

Division of Genetics and Program in Genomics, The Manton Center for Orphan Disease Research, Boston Children’s Hospital, Harvard Medical School, Boston, MA, USA.

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http://dx.doi.org/10.1093/hmg/ddt003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3605830PMC
April 2013

Myotubular myopathy and the neuromuscular junction: a novel therapeutic approach from mouse models.

Dis Model Mech 2012 Nov 24;5(6):852-9. Epub 2012 May 24.

Department of Pediatrics, Taubman Medical Research Institute, University of Michigan Medical Center, Ann Arbor, MI 48109-2200, USA.

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http://dx.doi.org/10.1242/dmm.009746DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3484867PMC
November 2012

Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy.

Hum Mutat 2012 Jun 4;33(6):949-59. Epub 2012 Apr 4.

Department of Translational Medicine and Neurogenetics, Institut de Génétique et de Biologie Moléculaire et Cellulaire, INSERM U964/CNRS UMR7104, University of Strasbourg, Collège de France, Illkirch, France.

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http://dx.doi.org/10.1002/humu.22067DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3374402PMC
June 2012

Oncolytic measles virus prolongs survival in a murine model of cerebral spinal fluid-disseminated medulloblastoma.

Neuro Oncol 2012 Apr 3;14(4):459-70. Epub 2012 Feb 3.

The Center for Childhood Cancer, The Research Institute at Nationwide Children’s Hospital, Columbus, Ohio, USA.

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https://academic.oup.com/neuro-oncology/article-lookup/doi/1
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http://dx.doi.org/10.1093/neuonc/nor231DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3309851PMC
April 2012

Inhibition of activin receptor type IIB increases strength and lifespan in myotubularin-deficient mice.

Am J Pathol 2011 Feb;178(2):784-93

Division of Genetics and Program in Genomics, The Manton Center for Orphan Disease Research, Children’s Hospital Boston, Harvard Medical School, Boston, Massachusetts, USA

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http://dx.doi.org/10.1016/j.ajpath.2010.10.035DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3069865PMC
February 2011

Treatment of medulloblastoma with a modified measles virus.

Neuro Oncol 2010 Oct 21;12(10):1034-42. Epub 2010 May 21.

The Center for Childhood Cancer, The Research Institute at Nationwide Children’s Hospital, Department of Pediatrics, The Ohio State University, Columbus, Ohio, USA.

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http://dx.doi.org/10.1093/neuonc/noq057DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3018921PMC
October 2010

Myofiber size correlates with MTM1 mutation type and outcome in X-linked myotubular myopathy.

Neuromuscul Disord 2007 Jul 29;17(7):562-8. Epub 2007 May 29.

Department of Pathology, Division of Neuropathology, Children's Hospital Boston and Brigham, 300 Longwood Avenue, Boston, MA 02115, USA.

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http://linkinghub.elsevier.com/retrieve/pii/S096089660700111
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http://dx.doi.org/10.1016/j.nmd.2007.03.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2043149PMC
July 2007

Is the late preterm infant more vulnerable to gray matter injury than the term infant?

Clin Perinatol 2006 Dec;33(4):915-33; abstract x-xi

Department of Pathology, Enders Building, Room 1109, Children's Hospital Boston, Boston, MA 02115, USA.

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http://dx.doi.org/10.1016/j.clp.2006.10.003DOI Listing
December 2006

Case records of the Massachusetts General Hospital. Case 35-2006. A newborn boy with hypotonia.

N Engl J Med 2006 Nov;355(20):2132-42

Department of Neurology, Massachusetts General Hospital, Boston, USA.

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http://dx.doi.org/10.1056/NEJMcpc069026DOI Listing
November 2006

X-linked myotubular and centronuclear myopathies.

J Neuropathol Exp Neurol 2005 Jul;64(7):555-64

Department of Pathology, Children's Hospital Boston, Massachusetts 02115, USA.

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http://dx.doi.org/10.1097/01.jnen.0000171653.17213.2eDOI Listing
July 2005

Molecular alterations underlie nodal and paranodal degeneration in type 1 diabetic neuropathy and are prevented by C-peptide.

Diabetes 2004 Jun;53(6):1556-63

Wayne State University, Department of Pathology, 540 E. Canfield Avenue, Detroit, MI 48201, USA.

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http://dx.doi.org/10.2337/diabetes.53.6.1556DOI Listing
June 2004

Impaired glucose tolerance and insulinopenia in the GK-rat causes peripheral neuropathy.

Diabetes Metab Res Rev 2002 Nov-Dec;18(6):473-83

Department of Pathology, Wayne State University, School of Medicine, Detroit, MI, USA.

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http://doi.wiley.com/10.1002/dmrr.326
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http://dx.doi.org/10.1002/dmrr.326DOI Listing
July 2003

Proinsulin C-peptide replacement in type 1 diabetic BB/Wor-rats prevents deficits in nerve fiber regeneration.

J Neuropathol Exp Neurol 2003 Jul;62(7):765-79

Department of Pathology, Wayne State University, School of Medicine and Detroit Medical Center, Detroit, Michigan 48201, USA.

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http://dx.doi.org/10.1093/jnen/62.7.765DOI Listing
July 2003

Insulin deficiency rather than hyperglycemia accounts for impaired neurotrophic responses and nerve fiber regeneration in type 1 diabetic neuropathy.

J Neuropathol Exp Neurol 2003 Mar;62(3):260-71

Department of Pathology, Morris Hood Jr. Comprehensive Diabetes Center, Wayne State University School of Medicine, Detroit, Michigan 48201, USA.

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http://dx.doi.org/10.1093/jnen/62.3.260DOI Listing
March 2003

Maspin is up-regulated in premalignant prostate epithelia.

Prostate 2002 Dec;53(4):255-62

Department of Pathology, Wayne State University School of Medicine, Detroit, Michigan 48201, USA.

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http://dx.doi.org/10.1002/pros.10107DOI Listing
December 2002

Early gene responses of trophic factors in nerve regeneration differ in experimental type 1 and type 2 diabetic polyneuropathies.

J Neuropathol Exp Neurol 2002 Oct;61(10):857-71

Department of Pathology, Wayne State University School of Medicine, Detroit, Michigan 48201, USA.

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http://dx.doi.org/10.1093/jnen/61.10.857DOI Listing
October 2002

Altered tubulin and neurofilament expression and impaired axonal growth in diabetic nerve regeneration.

J Neuropathol Exp Neurol 2002 Feb;61(2):164-75

Department of Pathology, Morris Hood Jr Comprehensive Diabetes Center, Wayne State University, Detroit, Michigan 48201, USA.

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http://dx.doi.org/10.1093/jnen/61.2.164DOI Listing
February 2002