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Author Details

Elizabeth Nickerson
The Broad Institute of Harvard and MIT
1995
23
21
PMIDPaper TitleJournal TitlePublished Year
28594900Systematic genomic and translational efficiency studies of uveal melanoma.PLoS One2017
28594900Systematic genomic and translational efficiency studies of uveal melanoma.PLoS One2017
24390348Landscape of genomic alterations in cervical carcinomas.Nature2014
24390348Landscape of genomic alterations in cervical carcinomas.Nature2014
24909177Exome sequencing of pleuropulmonary blastoma reveals frequent biallelic loss of TP53 and two hits in DICER1 resulting in retention of 5p-derived miRNA hairpin loop sequences.Oncogene2014
24909177Exome sequencing of pleuropulmonary blastoma reveals frequent biallelic loss of TP53 and two hits in DICER1 resulting in retention of 5p-derived miRNA hairpin loop sequences.Oncogene2014
23453666Whole-exome sequencing identifies mutated c12orf57 in recessive corpus callosum hypoplasia.Am J Hum Genet2013
23911318AMPD2 regulates GTP synthesis and is mutated in a potentially treatable neurodegenerative brainstem disorder.Cell2013
23770567Mutational heterogeneity in cancer and the search for new cancer-associated genes.Nature2013
24185511Somatic mutation of CDKN1B in small intestine neuroendocrine tumors.Nat Genet2013
23386033Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders.Eur J Hum Genet2013
23622249Punctuated evolution of prostate cancer genomes.Cell2013
23453666Whole-exome sequencing identifies mutated c12orf57 in recessive corpus callosum hypoplasia.Am J Hum Genet2013
24185511Somatic mutation of CDKN1B in small intestine neuroendocrine tumors.Nat Genet2013
23911318AMPD2 regulates GTP synthesis and is mutated in a potentially treatable neurodegenerative brainstem disorder.Cell2013
23622249Punctuated evolution of prostate cancer genomes.Cell2013
23770567Mutational heterogeneity in cancer and the search for new cancer-associated genes.Nature2013
23386033Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders.Eur J Hum Genet2013
22610119Exome sequencing identifies recurrent SPOP, FOXA1 and MED12 mutations in prostate cancer.Nat Genet2012
22577224Whole exome sequencing identifies a splicing mutation in NSUN2 as a cause of a Dubowitz-like syndrome.J Med Genet2012
22622578Melanoma genome sequencing reveals frequent PREX2 mutations.Nature2012
22610119Exome sequencing identifies recurrent SPOP, FOXA1 and MED12 mutations in prostate cancer.Nat Genet2012
22817889A landscape of driver mutations in melanoma.Cell2012
22817889A landscape of driver mutations in melanoma.Cell2012
22622578Melanoma genome sequencing reveals frequent PREX2 mutations.Nature2012
22577224Whole exome sequencing identifies a splicing mutation in NSUN2 as a cause of a Dubowitz-like syndrome.J Med Genet2012
16541075The finished DNA sequence of human chromosome 12.Nature2006
16799556Sensitive mutation detection in heterogeneous cancer specimens by massively parallel picoliter reactor sequencing.Nat Med2006
16541075The finished DNA sequence of human chromosome 12.Nature2006
16799556Sensitive mutation detection in heterogeneous cancer specimens by massively parallel picoliter reactor sequencing.Nat Med2006
16869740Detection of oncogenic mutations in the EGFR gene in lung adenocarcinoma with differential sensitivity to EGFR tyrosine kinase inhibitors.Cold Spring Harb Symp Quant Biol2005
16869740Detection of oncogenic mutations in the EGFR gene in lung adenocarcinoma with differential sensitivity to EGFR tyrosine kinase inhibitors.Cold Spring Harb Symp Quant Biol2005
12368253The generic genome browser: a building block for a model organism system database.Genome Res2002
12368253The generic genome browser: a building block for a model organism system database.Genome Res2002
10636739A case of Williams syndrome with a large, visible cytogenetic deletion.J Med Genet1999
10636739A case of Williams syndrome with a large, visible cytogenetic deletion.J Med Genet1999
9751737A mutation in human CMP-sialic acid hydroxylase occurred after the Homo-Pan divergence.Proc Natl Acad Sci U S A1998
9637430Delineation of the common critical region in Williams syndrome and clinical correlation of growth, heart defects, ethnicity, and parental origin.Am J Med Genet1998
9751737A mutation in human CMP-sialic acid hydroxylase occurred after the Homo-Pan divergence.Proc Natl Acad Sci U S A1998
9676431Molecular definition of pericentric inversion breakpoints occurring during the evolution of humans and chimpanzees.Genomics1998
9637430Delineation of the common critical region in Williams syndrome and clinical correlation of growth, heart defects, ethnicity, and parental origin.Am J Med Genet1998
9676431Molecular definition of pericentric inversion breakpoints occurring during the evolution of humans and chimpanzees.Genomics1998
8786125The generation and regional localization of 303 new chromosome 5 sequence-tagged sites.Genomics1996
8786125The generation and regional localization of 303 new chromosome 5 sequence-tagged sites.Genomics1996
7726172Deletions of the elastin gene at 7q11.23 occur in approximately 90% of patients with Williams syndrome.Am J Hum Genet1995
7726172Deletions of the elastin gene at 7q11.23 occur in approximately 90% of patients with Williams syndrome.Am J Hum Genet1995
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Collaborators

Broad Institute of MIT and Harvard
Co-authored papers 11
Broad Institute
Co-authored papers 10
Broad Institute of the Massachusetts Institute of Technology and Harvard
Co-authored papers 9
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Co-authored papers 8
Broad Institute of Harvard and MIT
Co-authored papers 7
Co-authored papers 7
Co-authored papers 6
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Broad Institute of Massachusetts Institute of Technology and Harvard
Co-authored papers 6
Cystic Fibrosis Foundation
Co-authored papers 6
Co-authored papers 6
The Broad Institute of Harvard and MIT
Co-authored papers 6
Co-authored papers 5
Princess Margaret Cancer Centre, University Health Network
Co-authored papers 5
Co-authored papers 5
Vanderbilt-Ingram Cancer Center, Vanderbilt University
Co-authored papers 5
Co-authored papers 5
University of California
Co-authored papers 4
Co-authored papers 4
Broad Institute of MIT and Harvard
Co-authored papers 4
Co-authored papers 4
Co-authored papers 4
Co-authored papers 3
Baylor College of Medicine
Co-authored papers 3
Dana-Farber Cancer Institute
Co-authored papers 3
Co-authored papers 3
Co-authored papers 3
Scripps Research Translational Institute
Co-authored papers 3
Human Genetics and Genome Research Institute, National Research Centre
Co-authored papers 3