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Relapsed and De Novo Metastatic HER2-positive Breast Cancer Treated With Trastuzumab: Tumor Genotypes and Clinical Measures Associated With Patient Outcome.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Examination of validity of identifying congenital heart disease from hospital discharge data without a gold standard: Using a data linkage approach.
- Published in:
- Paediatric & Perinatal Epidemiology, 2023, v. 37, n. 4, p. 303, doi. 10.1111/ppe.12976
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- Publication type:
- Article
Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation.
- Published in:
- Nature Communications, 2023, v. 14, n. 1, p. 1, doi. 10.1038/s41467-023-36606-w
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- Publication type:
- Article
Evaluation of the immunogenicity and impact on the latent HIV-1 reservoir of a conserved region vaccine, MVA.HIVconsv, in antiretroviral therapy-treated subjects.
- Published in:
- Journal of the International AIDS Society, 2017, v. 20, p. 1, doi. 10.7448/IAS.20.1.21171
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- Publication type:
- Article
Evaluation of the immunogenicity and impact on the latent HIV-1 reservoir of a conserved region vaccine, MVA.HIVconsv, in antiretroviral therapy-treated subjects.
- Published in:
- Journal of the International AIDS Society, 2017, v. 20, p. 1, doi. 10.7448/IAS.20.1.21171
- By:
- Publication type:
- Article
Context-adjusted proportion of singletons (CAPS): a novel metric for assessing negative selection in the human genome.
- Published in:
- NAR Genomics & Bioinformatics, 2024, v. 6, n. 3, p. 1, doi. 10.1093/nargab/lqae111
- By:
- Publication type:
- Article
Exposure of Keratinocytes to Candida Albicans in the Context of Atopic Milieu Induces Changes in the Surface Glycosylation Pattern of Small Extracellular Vesicles to Enhance Their Propensity to Interact With Inhibitory Siglec Receptors.
- Published in:
- Frontiers in Immunology, 2022, v. 13, p. 1, doi. 10.3389/fimmu.2022.884530
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- Publication type:
- Article
Binding of transcription factor GabR to DNA requires recognition of DNA shape at a location distinct from its cognate binding site.
- Published in:
- Nucleic Acids Research, 2016, v. 44, n. 3, p. 1411, doi. 10.1093/nar/gkv1466
- By:
- Publication type:
- Article
Rapidly Escalating Hepcidin and Associated Serum Iron Starvation Are Features of the Acute Response to Typhoid Infection in Humans.
- Published in:
- PLoS Neglected Tropical Diseases, 2015, v. 9, n. 9, p. 1, doi. 10.1371/journal.pntd.0004029
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- Publication type:
- Article
Analysis of hundreds of cis-regulatory landscapes at high resolution in a single, high-throughput experiment.
- Published in:
- Nature Genetics, 2014, v. 46, n. 2, p. 205, doi. 10.1038/ng.2871
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- Publication type:
- Article
Common variants in the HLA-DRB1-HLA-DQA1 HLA class II region are associated with susceptibility to visceral leishmaniasis.
- Published in:
- Nature Genetics, 2013, v. 45, n. 2, p. 208, doi. 10.1038/ng.2518
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- Publication type:
- Article
Pneumococcal genome sequencing tracks a vaccine escape variant formed through a multi-fragment recombination event.
- Published in:
- Nature Genetics, 2012, v. 44, n. 3, p. 352, doi. 10.1038/ng.1072
- By:
- Publication type:
- Article
Verification and validation of bioinformatics software without a gold standard: a case study of BWA and Bowtie.
- Published in:
- BMC Bioinformatics, 2014, v. 15, n. Suppl 16, p. 1, doi. 10.1186/1471-2105-15-S16-S15
- By:
- Publication type:
- Article
Effects of TP53 and PIK3CA mutations in early breast cancer: a matter of co-mutation and tumor-infiltrating lymphocytes.
- Published in:
- Breast Cancer Research & Treatment, 2016, v. 158, n. 2, p. 307, doi. 10.1007/s10549-016-3883-z
- By:
- Publication type:
- Article
Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls.
- Published in:
- Nature, 2010, v. 464, n. 7289, p. 713, doi. 10.1038/nature08979
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- Publication type:
- Article
Tumor Genotyping and Homologous Recombination Repair Gene Variants in Patients With Epithelial Ovarian Cancer: Is Pathogenic Enough?
- Published in:
- Frontiers in Oncology, 2021, v. 11, p. 1, doi. 10.3389/fonc.2021.683057
- By:
- Publication type:
- Article
Dynamics of Transforming Growth Factor (TGF)-β Superfamily Cytokine Induction During HIV-1 Infection Are Distinct From Other Innate Cytokines.
- Published in:
- Frontiers in Immunology, 2020, v. 11, p. N.PAG, doi. 10.3389/fimmu.2020.596841
- By:
- Publication type:
- Article
Early dynamic fate changes in haemogenic endothelium characterized at the single-cell level.
- Published in:
- Nature Communications, 2013, v. 4, n. 12, p. 2924, doi. 10.1038/ncomms3924
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- Publication type:
- Article
Interferon-induced transmembrane protein-3 genetic variant rs12252-C is associated with severe influenza in Chinese individuals.
- Published in:
- Nature Communications, 2013, v. 4, n. 1, p. 1418, doi. 10.1038/ncomms2433
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- Publication type:
- Article
Prognostic Biomarkers in Early-stage Gastric Adenocarcinoma Treated With Adjuvant Chemoradiotherapy.
- Published in:
- Cancer Genomics & Proteomics (1109-6535), 2020, v. 17, n. 3, p. 277, doi. 10.21873/cgp.20188
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- Publication type:
- Article
Tumor Mutational Patterns and Infiltrating Lymphocyte Density in Young and Elderly Patients With Breast Cancer.
- Published in:
- Cancer Genomics & Proteomics (1109-6535), 2020, v. 17, n. 2, p. 181, doi. 10.21873/cgp.20179
- By:
- Publication type:
- Article
Opposite Prognostic Impact of Single PTEN-loss and PIK3CA Mutations in Early High-risk Breast Cancer.
- Published in:
- Cancer Genomics & Proteomics (1109-6535), 2019, v. 16, n. 3, p. 195, doi. 10.21873/cgp.20125
- By:
- Publication type:
- Article
Single cell sequencing data identify distinct B cell and fibroblast populations in stricturing Crohn's disease.
- Published in:
- Journal of Cellular & Molecular Medicine, 2024, v. 28, n. 9, p. 1, doi. 10.1111/jcmm.18344
- By:
- Publication type:
- Article
Multi-omic profiling reveals associations between the gut mucosal microbiome, the metabolome, and host DNA methylation associated gene expression in patients with colorectal cancer.
- Published in:
- BMC Microbiology, 2020, v. 20, n. 1, p. 1, doi. 10.1186/s12866-020-01762-2
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- Publication type:
- Article
Isogenic mice exhibit sexually-dimorphic DNA methylation patterns across multiple tissues.
- Published in:
- BMC Genomics, 2017, v. 18, p. 1, doi. 10.1186/s12864-017-4350-x
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- Publication type:
- Article
Heterozygous loss of WBP11 function causes multiple congenital defects in humans and mice.
- Published in:
- Human Molecular Genetics, 2020, v. 29, n. 22, p. 3662, doi. 10.1093/hmg/ddaa258
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- Publication type:
- Article
Functional characterization of a novel PBX1 de novo missense variant identified in a patient with syndromic congenital heart disease.
- Published in:
- Human Molecular Genetics, 2020, v. 29, n. 7, p. 1068, doi. 10.1093/hmg/ddz231
- By:
- Publication type:
- Article
Functional genomics and gene-environment interaction highlight the complexity of congenital heart disease caused by Notch pathway variants.
- Published in:
- Human Molecular Genetics, 2020, v. 29, n. 4, p. 566, doi. 10.1093/hmg/ddz270
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- Publication type:
- Article
An inherited duplication at the gene p21 Protein-Activated Kinase 7 (PAK7) is a risk factor for psychosis.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 12, p. 3316
- By:
- Publication type:
- Article
Cellular interference in craniofrontonasal syndrome: males mosaic for mutations in the X-linked EFNB1 gene are more severely affected than true hemizygotes.
- Published in:
- Human Molecular Genetics, 2013, v. 22, n. 8, p. 1654, doi. 10.1093/hmg/ddt015
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- Publication type:
- Article
Prevalent somatic BRCA1 mutations shape clinically relevant genomic patterns of nasopharyngeal carcinoma in Southeast Europe.
- Published in:
- International Journal of Cancer, 2018, v. 142, n. 1, p. 66, doi. 10.1002/ijc.31023
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- Publication type:
- Article
Tumor Infiltrating Lymphocytes Affect the Outcome of Patients with Operable Triple-Negative Breast Cancer in Combination with Mutated Amino Acid Classes.
- Published in:
- PLoS ONE, 2016, v. 11, n. 9, p. 1, doi. 10.1371/journal.pone.0163138
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- Publication type:
- Article
Benchmarking the Effectiveness and Accuracy of Multiple Mitochondrial DNA Variant Callers: Practical Implications for Clinical Application.
- Published in:
- Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.692257
- By:
- Publication type:
- Article
Epigenetic and Metabolic Reprogramming of Fibroblasts in Crohn's Disease Strictures Reveals Histone Deacetylases as Therapeutic Targets.
- Published in:
- Journal of Crohn's & Colitis, 2024, v. 18, n. 6, p. 895, doi. 10.1093/ecco-jcc/jjad209
- By:
- Publication type:
- Article
ConanVarvar: a versatile tool for the detection of large syndromic copy number variation from whole-genome sequencing data.
- Published in:
- BMC Bioinformatics, 2023, v. 24, n. 1, p. 1, doi. 10.1186/s12859-023-05154-x
- By:
- Publication type:
- Article
dv-trio: a family-based variant calling pipeline using DeepVariant.
- Published in:
- Bioinformatics, 2020, v. 36, n. 11, p. 3549, doi. 10.1093/bioinformatics/btaa116
- By:
- Publication type:
- Article
Spliceogen: an integrative, scalable tool for the discovery of splice-altering variants.
- Published in:
- Bioinformatics, 2019, v. 35, n. 21, p. 4405, doi. 10.1093/bioinformatics/btz263
- By:
- Publication type:
- Article
SVPV: a structural variant prediction viewer for paired-end sequencing datasets.
- Published in:
- Bioinformatics, 2017, v. 33, n. 13, p. 2032, doi. 10.1093/bioinformatics/btx117
- By:
- Publication type:
- Article
GenoSNP: a variational Bayes within-sample SNP genotyping algorithm that does not require a reference population.
- Published in:
- Bioinformatics, 2008, v. 24, n. 19, p. 2209, doi. 10.1093/bioinformatics/btn386
- By:
- Publication type:
- Article
Phase II study of panitumumab combined with capecitabine and oxaliplatin as first-line treatment in metastatic colorectal cancer patients: clinical results including extended tumor genotyping.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Whole-genome sequencing of spermatocytic tumors provides insights into the mutational processes operating in the male germline.
- Published in:
- PLoS ONE, 2017, v. 12, n. 5, p. 1, doi. 10.1371/journal.pone.0178169
- By:
- Publication type:
- Article
The miR-200 family is increased in dysplastic lesions in ulcerative colitis patients.
- Published in:
- PLoS ONE, 2017, v. 12, n. 3, p. 1, doi. 10.1371/journal.pone.0173664
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- Publication type:
- Article