Eric Rappaport

Eric Rappaport

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Eric Rappaport

Eric Rappaport

Publications by authors named "Eric Rappaport"

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Identification and characterization of a novel heparan sulfate-binding domain in Activin A longest variants and implications for function.

PLoS One 2019 19;14(9):e0222784. Epub 2019 Sep 19.

Translational Research Program in Pediatric Orthopaedics, Division of Orthopaedic Surgery, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0222784PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6752817PMC
September 2019

The Pediatric Cell Atlas: Defining the Growth Phase of Human Development at Single-Cell Resolution.

Dev Cell 2019 04 28;49(1):10-29. Epub 2019 Mar 28.

Department of Biomedical Informatics, University of Cincinnati College of Medicine, and Cincinnati Children's Hospital Medical Center, Division of Biomedical Informatics, Cincinnati, OH 45229, USA.

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http://dx.doi.org/10.1016/j.devcel.2019.03.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6616346PMC
April 2019

The type 2 diabetes presumed causal variant within TCF7L2 resides in an element that controls the expression of ACSL5.

Diabetologia 2016 11 18;59(11):2360-2368. Epub 2016 Aug 18.

Divisions of Human Genetics and Endocrinology, The Children's Hospital of Philadelphia, 3615 Civic Center Boulevard, Room 1102D, Philadelphia, PA, 19104, USA.

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http://dx.doi.org/10.1007/s00125-016-4077-2DOI Listing
November 2016

Unique Familial MLL(KMT2A)-Rearranged Precursor B-Cell Infant Acute Lymphoblastic Leukemia in Non-twin Siblings.

Pediatr Blood Cancer 2016 07 21;63(7):1175-80. Epub 2016 Mar 21.

Division of Oncology, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.

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http://dx.doi.org/10.1002/pbc.25957DOI Listing
July 2016

Erratum to: A de novo whole gene deletion of XIAP detected by exome sequencing analysis in very early onset inflammatory bowel disease: a case report.

BMC Gastroenterol 2015 Dec 18;15:179. Epub 2015 Dec 18.

Division of Human Genetics, The Children's Hospital of Philadelphia, Department of Pediatrics, Department of Biostatistics and Epidemiology, Perelman School of Medicine, University of Pennsylvania; Department of Molecular Medicine, University Sapienza, Rome, Italy.

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http://dx.doi.org/10.1186/s12876-015-0412-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4683708PMC
December 2015

Exome sequencing analysis reveals variants in primary immunodeficiency genes in patients with very early onset inflammatory bowel disease.

Gastroenterology 2015 Nov 17;149(6):1415-24. Epub 2015 Jul 17.

Division of Human Genetics, The Children's Hospital of Philadelphia; Department of Pediatrics, Department of Biostatistics and Epidemiology, Perelman School of Medicine, University of Pennsylvania; Department of Molecular Medicine, University Sapienza, Rome, Italy.

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http://dx.doi.org/10.1053/j.gastro.2015.07.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4853027PMC
November 2015

Generation of a mouse model of atypical teratoid/rhabdoid tumor of the central nervous system through combined deletion of Snf5 and p53.

Cancer Res 2015 Nov 11;75(21):4629-39. Epub 2015 Sep 11.

Department of Pathology and Laboratory Medicine, Division of Cancer Pathobiology, The Children's Hospital of Philadelphia, Research Institute, Philadelphia, Pennsylvania.

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http://dx.doi.org/10.1158/0008-5472.CAN-15-0874DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4631617PMC
November 2015

A de novo whole gene deletion of XIAP detected by exome sequencing analysis in very early onset inflammatory bowel disease: a case report.

BMC Gastroenterol 2015 Nov 18;15:160. Epub 2015 Nov 18.

Division of Human Genetics, The Children's Hospital of Philadelphia, Department of Pediatrics, Department of Biostatistics and Epidemiology, Perelman School of Medicine, University of Pennsylvania; Department of Molecular Medicine, University Sapienza, Rome, Italy.

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http://dx.doi.org/10.1186/s12876-015-0394-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4652404PMC
November 2015

RNA Biosignatures in Adolescent Patients in a Pediatric Emergency Department With Pelvic Inflammatory Disease.

Pediatr Emerg Care 2015 Jul;31(7):465-72

From the *Division of Emergency Medicine, The Children's Hospital of Philadelphia; †Perelman School of Medicine, University of Pennsylvania; ‡Bioinformatics Core Facility, §Microarray Core Facility, The Children's Hospital of Philadelphia; ∥Division of Emergency Medicine, Children's National Medical Center; and ¶Division of Allergy and Immunology, The Children's Hospital of Philadelphia, Philadelphia, PA.

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http://dx.doi.org/10.1097/PEC.0000000000000483DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4495580PMC
July 2015

ALK mutations confer differential oncogenic activation and sensitivity to ALK inhibition therapy in neuroblastoma.

Cancer Cell 2014 Nov 10;26(5):682-94. Epub 2014 Nov 10.

Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, USA; Division of Oncology and Center for Childhood Cancer Research, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ccell.2014.09.019DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4269829PMC
November 2014

Progressive increase in mtDNA 3243A>G heteroplasmy causes abrupt transcriptional reprogramming.

Proc Natl Acad Sci U S A 2014 Sep 5;111(38):E4033-42. Epub 2014 Sep 5.

Center for Mitochondrial and Epigenomic Medicine, Children's Hospital of Philadelphia and the Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, PA 19104;

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http://dx.doi.org/10.1073/pnas.1414028111DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4183335PMC
September 2014

Dielectrophoretic capture and genetic analysis of single neuroblastoma tumor cells.

Front Oncol 2014 31;4:201. Epub 2014 Jul 31.

Division of Oncology, Center for Childhood Cancer Research, Children's Hospital of Philadelphia , Philadelphia, PA , USA ; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania , Philadelphia, PA , USA.

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https://www.frontiersin.org/articles/10.3389/fonc.2014.00201
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http://journal.frontiersin.org/article/10.3389/fonc.2014.002
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http://dx.doi.org/10.3389/fonc.2014.00201DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4116800PMC
August 2014

Histone H2AX suppresses translocations in lymphomas of Eμ-c-Myc transgenic mice that contain a germline amplicon of tumor-promoting genes.

Cell Cycle 2013 Sep 8;12(17):2867-75. Epub 2013 Aug 8.

Division of Cancer Pathobiology; Department of Pathology and Laboratory Medicine; Center for Childhood Cancer Research; Children's Hospital of Philadelphia Research Institute; Philadelphia, PA USA; Abramson Family Cancer Research Institute; Perelman School of Medicine of the University of Pennsylvania; Philadelphia, PA USA.

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http://dx.doi.org/10.4161/cc.25922DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3899199PMC
September 2013

Network-based analysis of multivariate gene expression data.

Methods Mol Biol 2013 ;972:121-39

Department of Biostatistics and Epidemiology, New Jersey Institute of Technology, Newark, NJ, USA.

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http://dx.doi.org/10.1007/978-1-60327-337-4_8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3692268PMC
July 2013

Transient treatment with epigenetic modifiers yields stable neuroblastoma stem cells resembling aggressive large-cell neuroblastomas.

Proc Natl Acad Sci U S A 2013 Apr 11;110(15):6097-102. Epub 2013 Mar 11.

Department of Anatomy and Cell Biology, College of Medicine, University of Illinois at Chicago, IL 60612, USA.

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http://www.pnas.org/cgi/doi/10.1073/pnas.1118262110
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http://dx.doi.org/10.1073/pnas.1118262110DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3625318PMC
April 2013

Re-sequencing of ankyrin 3 exon 48 and case-control association analysis of rare variants in bipolar disorder type I.

Bipolar Disord 2012 Dec 11;14(8):809-21. Epub 2012 Sep 11.

Department of Psychiatry, Center for Neurobiology and Behavior, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, USA.

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http://dx.doi.org/10.1111/bdi.12002DOI Listing
December 2012

Mitochondrial disease genetic diagnostics: optimized whole-exome analysis for all MitoCarta nuclear genes and the mitochondrial genome.

Discov Med 2012 Dec;14(79):389-99

Division of Human Genetics and Division of Child Development and Metabolic Disease, Department of Pediatrics, The Children's Hospital of Philadelphia and University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania 19104, USA.

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http://www.discoverymedicine.com/Marni-J-Falk/files/2013/01/
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3923327PMC
December 2012

Preclinical evaluation of pemetrexed in pediatric solid tumors.

Pediatr Blood Cancer 2011 Dec 17;57(7):1233-5. Epub 2011 Aug 17.

Division of Clinical Pharmacology & Therapeutics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA.

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http://dx.doi.org/10.1002/pbc.23286DOI Listing
December 2011

Biological effects of induced MYCN hyper-expression in MYCN-amplified neuroblastomas.

Int J Oncol 2010 Oct;37(4):983-91

Department of Anatomy and Cell Biology, College of Medicine, University of Illinois at Chicago, Chicago, IL 60612, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3212990PMC
http://dx.doi.org/10.3892/ijo_00000749DOI Listing
October 2010

Serial transcriptome analysis and cross-species integration identifies centromere-associated protein E as a novel neuroblastoma target.

Cancer Res 2010 Apr 16;70(7):2749-58. Epub 2010 Mar 16.

Division of Oncology and Center for Childhood Cancer Research, Children's Hospital of Philadelphia, Department of Pediatrics, University of Pennsylvania, Philadelphia, Pennsylvania, USA.

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http://dx.doi.org/10.1158/0008-5472.CAN-09-3844DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2848992PMC
April 2010

Cross-platform expression microarray performance in a mouse model of mitochondrial disease therapy.

Mol Genet Metab 2010 Mar 30;99(3):309-18. Epub 2009 Oct 30.

Division of Biomedical Informatics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.

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http://dx.doi.org/10.1016/j.ymgme.2009.10.179DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2824080PMC
March 2010

CNV Workshop: an integrated platform for high-throughput copy number variation discovery and clinical diagnostics.

BMC Bioinformatics 2010 Feb 4;11:74. Epub 2010 Feb 4.

Center for Biomedical Informatics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.

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http://dx.doi.org/10.1186/1471-2105-11-74DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2827374PMC
February 2010

Molecular karyotype of sporadic unilateral retinoblastoma tumors.

Retina 2009 Jul-Aug;29(7):1002-12

Department of Genetics, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA.

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http://dx.doi.org/10.1097/IAE.0b013e3181a0be05DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2722034PMC
October 2009

Transcriptional dysregulation in NIPBL and cohesin mutant human cells.

PLoS Biol 2009 May 26;7(5):e1000119. Epub 2009 May 26.

Division of Human Genetics, Abramson Research Institute, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, United States of America.

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http://dx.doi.org/10.1371/journal.pbio.1000119DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2680332PMC
May 2009

Treatment with sirolimus results in complete responses in patients with autoimmune lymphoproliferative syndrome.

Br J Haematol 2009 Apr 4;145(1):101-6. Epub 2009 Feb 4.

Pediatric Hematology and Oncology, Children's Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia PA 19104, USA.

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http://dx.doi.org/10.1111/j.1365-2141.2009.07595.xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2819393PMC
April 2009

Proline affects brain function in 22q11DS children with the low activity COMT 158 allele.

Neuropsychopharmacology 2009 Feb 3;34(3):739-46. Epub 2008 Sep 3.

Department of Psychiatry, Rudolf Magnus Institute of Neuroscience, University Medical Center Utrecht, Utrecht, The Netherlands.

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http://dx.doi.org/10.1038/npp.2008.132DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2817942PMC
February 2009

Identification of ALK as a major familial neuroblastoma predisposition gene.

Nature 2008 Oct 24;455(7215):930-5. Epub 2008 Aug 24.

Division of Oncology and Center for Childhood Cancer Research, Children's Hospital of Philadelphia, Department of Pediatrics, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104, USA.

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http://dx.doi.org/10.1038/nature07261DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2672043PMC
October 2008

Identification of oscillatory genes in somitogenesis from functional genomic analysis of a human mesenchymal stem cell model.

Dev Biol 2007 May 14;305(1):172-86. Epub 2007 Feb 14.

Division of Human Genetics and Orthopaedic Surgery, Children's Hospital of Philadelphia, 3615 Civic Center Blvd., Philadelphia, PA 19104, USA.

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http://dx.doi.org/10.1016/j.ydbio.2007.02.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1899184PMC
May 2007

Rapid detection of submicroscopic chromosomal rearrangements in children with multiple congenital anomalies using high density oligonucleotide arrays.

Hum Mutat 2006 May;27(5):467-73

Division of Human Genetics, Stokes Research Institute, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA.

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http://dx.doi.org/10.1002/humu.20322DOI Listing
May 2006

Differential gene expression in mouse sclera during ocular development.

Invest Ophthalmol Vis Sci 2006 May;47(5):1794-802

Division of Ophthalmology, Children's Hospital of Philadelphia, Pennsylvania, USA.

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http://dx.doi.org/10.1167/iovs.05-0759DOI Listing
May 2006

Region-specific detection of neuroblastoma loss of heterozygosity at multiple loci simultaneously using a SNP-based tag-array platform.

Genome Res 2005 Aug;15(8):1168-76

Division of Oncology, The Children's Hospital of Philadelphia, and Department of Pediatrics, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104, USA.

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http://dx.doi.org/10.1101/gr.3865305DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1182230PMC
August 2005

Identification of a novel locus on 2q for autosomal dominant high-grade myopia.

Invest Ophthalmol Vis Sci 2005 Jul;46(7):2300-7

Divisions of Ophthalmology and.

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http://dx.doi.org/10.1167/iovs.04-1423DOI Listing
July 2005

Norrie disease gene sequence variants in an ethnically diverse population with retinopathy of prematurity.

Mol Vis 2005 Jul 14;11:501-8. Epub 2005 Jul 14.

Department of Ophthalmology, Children's National Medical Center, Washington, DC, USA.

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July 2005

Genomic structure and organization of the high grade Myopia-2 locus (MYP2) critical region: mutation screening of 9 positional candidate genes.

Mol Vis 2005 Feb 2;11:97-110. Epub 2005 Feb 2.

Division of Ophthalmology, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.

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February 2005

Microarray analysis of gene expression in human donor sclera.

Mol Vis 2004 Mar 22;10:163-76. Epub 2004 Mar 22.

Division of Ophthalmology, Children's Hospital of Philadelphia and the University of Pennsylvania, Philadelphia, PA 19104, USA.

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March 2004

CYP3A genotypes and treatment response in paediatric acute lymphoblastic leukaemia.

Br J Haematol 2003 Jul;122(2):240-4

Children's Hospital of Philadelphia, Philadelphia, University of Pennsylvania, PA, Children's Cancer Study Group, Arcadia, CA, USA.

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http://dx.doi.org/10.1046/j.1365-2141.2003.04430.xDOI Listing
July 2003

ID2 expression is not associated with MYCN amplification or expression in human neuroblastomas.

Cancer Res 2003 Apr;63(7):1631-5

Division of Oncology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA.

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April 2003

Analysis of clinically relevant single-nucleotide polymorphisms by use of microelectronic array technology.

Clin Chem 2002 Dec;48(12):2124-30

Department of Pediatrics, The Children's Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA.

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December 2002

Pyrosequencing for detection of mutations in the connexin 26 (GJB2) and mitochondrial 12S RNA (MTRNR1) genes associated with hereditary hearing loss.

Hum Mutat 2002 Oct;20(4):312-20

Department of Pediatrics, The Children's Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, USA.

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http://dx.doi.org/10.1002/humu.10127DOI Listing
October 2002