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Author Details

Rebecca Shepherd
Murdoch Children's Research Institute, Royal Children's Hospital
2004
33
29
PMIDPaper TitleJournal TitlePublished Year
35177097Gender-affirming hormone therapy induces specific DNA methylation changes in blood.Clin Epigenetics2022
35930640Neonatal BCG vaccination is associated with a long-term DNA methylation signature in circulating monocytes.Sci Adv2022
33068406Project Score database: a resource for investigating cancer cell dependencies and prioritizing therapeutic targets.Nucleic Acids Res2021
33584674Sexual Dimorphism in Innate Immunity: The Role of Sex Hormones and Epigenetics.Front Immunol2021
32480123A Potential Role for Epigenetically Mediated Trained Immunity in Food Allergy.iScience2020
32989322The mutational signature profile of known and suspected human carcinogens in mice.Nat Genet2020
31862961Agreement between two large pan-cancer CRISPR-Cas9 gene dependency data sets.Nat Commun2019
30103702Unsupervised correction of gene-independent cell responses to CRISPR-Cas9 targeting.BMC Genomics2018
27135926Landscape of somatic mutations in 560 breast cancer whole-genome sequences.Nature2016
27615322Mutational signatures of ionizing radiation in second malignancies.Nat Commun2016
25897122The BioMart community portal: an innovative alternative to large, centralized data repositories.Nucleic Acids Res2015
26647970A comprehensive assessment of somatic mutation detection in cancer using whole-genome sequencing.Nat Commun2015
20952405COSMIC: mining complete cancer genomes in the Catalogue of Somatic Mutations in Cancer.Nucleic Acids Res2011
21930507BioMart Central Portal: an open database network for the biological community.Database (Oxford)2011
21609966Data mining using the Catalogue of Somatic Mutations in Cancer BioMart.Database (Oxford)2011
20054297Systematic sequencing of renal carcinoma reveals inactivation of histone modifying genes.Nature2010
19377476A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation.Nat Genet2009
19330029Somatic mutations of the histone H3K27 demethylase gene UTX in human cancer.Nat Genet2009
18469813X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment.Nat Genet2008
17236139Mutations in CUL4B, which encodes a ubiquitin E3 ligase subunit, cause an X-linked mental retardation syndrome associated with aggressive outbursts, seizures, relative macrocephaly, central obesity, hypogonadism, pes cavus, and tremor.Am J Hum Genet2007
17704778Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation.Nat Genet2007
17668385Mutations in the BRWD3 gene cause X-linked mental retardation associated with macrocephaly.Am J Hum Genet2007
17344846Patterns of somatic mutation in human cancer genomes.Nature2007
17436253Mutations in ZDHHC9, which encodes a palmitoyltransferase of NRAS and HRAS, cause X-linked mental retardation associated with a Marfanoid habitus.Am J Hum Genet2007
17485433AutoCSA, an algorithm for high throughput DNA sequence variant detection in cancer genomes.Bioinformatics2007
16175573Sequence analysis of the protein kinase gene family in human testicular germ-cell tumors of adolescents and adults.Genes Chromosomes Cancer2006
17088437Mutation analysis of 24 known cancer genes in the NCI-60 cell line set.Mol Cancer Ther2006
17186471Mutations in the gene encoding the Sigma 2 subunit of the adaptor protein 1 complex, AP1S2, cause X-linked mental retardation.Am J Hum Genet2006
16618716A hypermutation phenotype and somatic MSH6 mutations in recurrent human malignant gliomas after alkylator chemotherapy.Cancer Res2006
15908952A screen of the complete protein kinase gene family identifies diverse patterns of somatic mutations in human breast cancer.Nat Genet2005
16140923Somatic mutations of the protein kinase gene family in human lung cancer.Cancer Res2005
16267136An IL-7-dependent rebound in thymic T cell output contributes to the bone loss induced by estrogen deficiency.Proc Natl Acad Sci U S A2005
15457249Lung cancer: intragenic ERBB2 kinase mutations in tumours.Nature2004
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Collaborators

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Co-authored papers 10
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European Bioinformatics Institute
Co-authored papers 9
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University of Cambridge
Co-authored papers 8
BGI Hong Kong Tech Co Ltd.
Co-authored papers 7
University of Cambridge, UK Cambridge University Hospitals NHS Foundation Trust
Co-authored papers 6
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Wellcome Trust Sanger Institute
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Basser Center for BRCA, Abramson Cancer Center, University of Pennsylvania
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Moores Cancer Center, university of california san diego
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