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Genetics

D-Index
57
Citations
15279
World Ranking
3385
National Ranking
1462

Overview

Eric F. Rappaport is affiliated with the Children's Hospital of Philadelphia in the United States. Their research primarily spans the fields of Biochemistry, Genetics and Molecular Biology, as well as Medicine. Their subfields of study include Genetics, Molecular Biology, Oncology, and Neurology.

The scientist's work covers several main topics, such as:

  • Genomic variations and chromosomal abnormalities
  • Congenital heart defects research
  • Lung cancer research studies
  • Neuroblastoma research and treatments

Eric F. Rappaport has published research in notable venues including UNC Libraries and Pediatric Blood & Cancer.

Recent scholarly publications include:

  • "Common genetic variants on 5p14.1 associate with autism spectrum disorders," 2020, UNC Libraries
  • KMT2A-MAML2 rearrangement emerged and regressed during neuroblastoma therapy without leukemia after 12.8-year follow-up," 2021, Pediatric Blood & Cancer

Frequent coauthors collaborating with Eric F. Rappaport include:

  • Kai Wang
  • Haitao Zhang
  • Deqiong Ma
  • Maja Bućan
  • Joseph Glessner

Best Publications

  • Identification of ALK as a major familial neuroblastoma predisposition gene

    Yaël P. Mossé;Marci Laudenslager;Luca Longo;Kristina A. Cole

  • Common genetic variants on 5p14.1 associate with autism spectrum disorders

    Kai Wang;Haitao Zhang;Deqiong Ma;Maja Bucan

  • Connexin26 Mutations Associated with the Most Common Form of Non-Syndromic Neurosensory Autosomal Recessive Deafness (DFNB1) in Mediterraneans

    Leopoldo Zelante;Paolo Gasparini;Xavier Estivill;Salvatore Melchionda

  • Connexin-26 mutations in sporadic and inherited sensorineural deafness

    Xavier Estivill;Paolo Fortina;Saul Surrey;Raquel Rabionet

  • Cornelia de Lange syndrome is caused by mutations in NIPBL , the human homolog of Drosophila melanogaster Nipped-B

    Ian D. Krantz;Jennifer McCallum;Cheryl DeScipio;Maninder Kaur

  • A genome-wide association study identifies KIAA0350 as a type 1 diabetes gene

    Hakon Hakonarson;Struan F A Grant;Jonathan P. Bradfield;Luc Marchand

  • Rare structural variants found in attention-deficit hyperactivity disorder are preferentially associated with neurodevelopmental genes

    J. Elia;X. Gai;H. M. Xie;J. C. Perin

  • High-resolution mapping and analysis of copy number variations in the human genome: A data resource for clinical and research applications

    Tamim H. Shaikh;Xiaowu Gai;Juan C. Perin;Joseph T. Glessner

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

    Scott C. Bresler;Daniel A. Weiser;Daniel A. Weiser;Peter J. Huwe;Jin H. Park

  • Common variations in BARD1 influence susceptibility to high-risk neuroblastoma

    Mario Capasso;Marcella Devoto;Cuiping Hou;Shahab Asgharzadeh

  • Germline PHOX2B mutation in hereditary neuroblastoma.

    Yael P. Mosse;Marci Laudenslager;Deepa Khazi;Alex J. Carlisle

  • Chromosome 6p22 Locus Associated with Clinically Aggressive Neuroblastoma

    John M. Maris;Yael P. Mosse;Jonathan P. Bradfield;Cuiping Hou

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

    Martin Picard;Jiangwen Zhang;Saege Hancock;Olga Derbeneva

  • Transcriptional dysregulation in NIPBL and cohesin mutant human cells.

    Jinglan Liu;Zhe Zhang;Masashige Bando;Takehiko Itoh

  • t(11;22)(q23;q11.2) in acute myeloid leukemia of infant twins fuses MLL with hCDCrel, a cell division cycle gene in the genomic region of deletion in DiGeorge and velocardiofacial syndromes

    Maureen D. Megonigal;Eric F. Rappaport;Douglas H. Jones;Terence M. Williams

  • Integrative genomics identifies distinct molecular classes of neuroblastoma and shows that multiple genes are targeted by regional alterations in DNA copy number.

    Qun Wang;Sharon Diskin;Eric Rappaport;Edward Attiyeh

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

    David T. Teachey;Robert Greiner;Alix Seif;Edward Attiyeh

  • Cloning and characterization of platelet factor 4 cDNA derived from a human erythroleukemic cell line.

    Mortimer Poncz;Saul Surrey;Paul LaRocco;Mitchell J. Weiss

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

    Prasuna C Paluru;Sudha Nallasamy;Marcella Devoto;Marcella Devoto;Eric F Rappaport

  • Differential expression of Fcγ RIIA, Fcγ RIIB and Fcγ RIIC in hematopoietic cells: Analysis of transcripts

    Diana L. Cassel;Margaret A. Keller;Saul Surrey;Elias Schwartz

Frequent Co-Authors

Saul Surrey
Saul Surrey Thomas Jefferson University
Carolyn A. Felix
Carolyn A. Felix Children's Hospital of Philadelphia
Paolo Fortina
Paolo Fortina Thomas Jefferson University
Marcella Devoto
Marcella Devoto University of Pennsylvania
Peter C. Nowell
Peter C. Nowell University of Pennsylvania
Beverly J. Lange
Beverly J. Lange Children's Hospital of Philadelphia
Hakon Hakonarson
Hakon Hakonarson Children's Hospital of Philadelphia
John M. Maris
John M. Maris Children's Hospital of Philadelphia
Yael P. Mosse
Yael P. Mosse Children's Hospital of Philadelphia
Struan F.A. Grant
Struan F.A. Grant University of Pennsylvania

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