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Single-cell sequencing of genomic DNA resolves sub-clonal heterogeneity in a melanoma cell line.
- Published in:
- Communications Biology, 2020, v. 3, n. 1, p. 1, doi. 10.1038/s42003-020-1044-8
- By:
- Publication type:
- Article
Multi-modality machine learning predicting Parkinson's disease.
- Published in:
- NPJ Parkinson's Disease, 2022, v. 8, n. 1, p. 1, doi. 10.1038/s41531-022-00288-w
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- Publication type:
- Article
A prospective pilot study of genome-wide exome and transcriptome profiling in patients with small cell lung cancer progressing after first-line therapy.
- Published in:
- PLoS ONE, 2017, v. 12, n. 6, p. 1, doi. 10.1371/journal.pone.0179170
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- Publication type:
- Article
Open-access synthetic spike-in mRNA-seq data for cancer gene fusions.
- Published in:
- BMC Genomics, 2014, v. 15, n. 1, p. 824, doi. 10.1186/1471-2164-15-824
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- Publication type:
- Article
Identification of somatic mutations in cancer through Bayesian-based analysis of sequenced genome pairs.
- Published in:
- BMC Genomics, 2013, v. 14, n. 1, p. 1, doi. 10.1186/1471-2164-14-302
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- Publication type:
- Article
Dystonia in ATP2B3-associated X-linked spinocerebellar ataxia.
- Published in:
- 2016
- By:
- Publication type:
- case study
Assessing and managing risk when sharing aggregate genetic variant data.
- Published in:
- 2011
- By:
- Publication type:
- Correction notice
Assessing and managing risk when sharing aggregate genetic variant data.
- Published in:
- 2011
- By:
- Publication type:
- review
Compound heterozygous mutations in SNAP29 is associated with Pelizaeus-Merzbacher-like disorder (PMLD).
- Published in:
- Human Genetics, 2019, v. 138, n. 11/12, p. 1409, doi. 10.1007/s00439-019-02077-7
- By:
- Publication type:
- Article
Norms and Attitudes about Being an Active Bystander: Support for Telling Adults about Seeing Knives or Guns at School among Greater London Youth.
- Published in:
- Journal of Youth & Adolescence, 2020, v. 49, n. 4, p. 849, doi. 10.1007/s10964-019-01127-7
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- Publication type:
- Article
Ntrk1 mutation co-segregating with bipolar disorder and inherited kidney disease in a multiplex family causes defects in neuronal growth and depression-like behavior in mice.
- Published in:
- Translational Psychiatry, 2020, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41398-020-01087-8
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- Publication type:
- Article
Polygenic risk for anxiety influences anxiety comorbidity and suicidal behavior in bipolar disorder.
- Published in:
- Translational Psychiatry, 2020, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41398-020-00981-5
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- Publication type:
- Article
Toward precision medicine in glioblastoma: the promise and the challenges.
- Published in:
- Neuro-Oncology, 2015, v. 17, n. 8, p. 1051, doi. 10.1093/neuonc/nov031
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- Publication type:
- Article
Long insert whole genome sequencing for copy number variant and translocation detection.
- Published in:
- Nucleic Acids Research, 2014, v. 42, n. 2, p. e8, doi. 10.1093/nar/gkt865
- By:
- Publication type:
- Article
Using social norms to reduce bullying: A research intervention among adolescents in five middle schools.
- Published in:
- Group Processes & Intergroup Relations, 2011, v. 14, n. 5, p. 703, doi. 10.1177/1368430210398004
- By:
- Publication type:
- Article
Plasma cytokine profiling in sibling pairs discordant for autism spectrum disorder.
- Published in:
- Journal of Neuroinflammation, 2013, v. 10, n. 1, p. 1, doi. 10.1186/1742-2094-10-38
- By:
- Publication type:
- Article
Plasma cytokine profiling in sibling pairs discordant for autism spectrum disorder.
- Published in:
- 2013
- By:
- Publication type:
- journal article
Transcriptome analysis provides critical answers to the "variants of uncertain significance" conundrum.
- Published in:
- Human Mutation, 2022, v. 43, n. 11, p. 1590, doi. 10.1002/humu.24394
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- Publication type:
- Article
Front Cover, Volume 41, Issue 2.
- Published in:
- Human Mutation, 2020, v. 41, n. 2, p. i, doi. 10.1002/humu.23982
- By:
- Publication type:
- Article
Utilizing RNA and outlier analysis to identify an intronic splice‐altering variant in AP4S1 in a sibling pair with progressive spastic paraplegia.
- Published in:
- Human Mutation, 2020, v. 41, n. 2, p. 412, doi. 10.1002/humu.23939
- By:
- Publication type:
- Article
A Planner's Guide to Land Use Law (Book Review).
- Published in:
- 1984
- By:
- Publication type:
- Book Review
Progressive cerebellar atrophy caused by heterozygous TECPR2 mutations.
- Published in:
- Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 2, p. 1, doi. 10.1002/mgg3.1857
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- Publication type:
- Article
Novel pathogenic variants and genes for myopathies identified by whole exome sequencing.
- Published in:
- Molecular Genetics & Genomic Medicine, 2015, v. 3, n. 4, p. 283, doi. 10.1002/mgg3.142
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- Publication type:
- Article
Personalized treatment of Sézary syndrome by targeting a novel CTLA4:CD28 fusion.
- Published in:
- Molecular Genetics & Genomic Medicine, 2015, v. 3, n. 2, p. 130, doi. 10.1002/mgg3.121
- By:
- Publication type:
- Article
Identifying treatment options for BRAF<sup>V600</sup> wild-type metastatic melanoma: A SU2C/MRA genomics-enabled clinical trial.
- Published in:
- PLoS ONE, 2021, v. 16, n. 4, p. 1, doi. 10.1371/journal.pone.0248097
- By:
- Publication type:
- Article
SNiPer-HD: improved genotype calling accuracy by an expectation-maximization algorithm for high-density SNP arrays.
- Published in:
- Bioinformatics, 2007, v. 23, n. 1, p. 57, doi. 10.1093/bioinformatics/btl536
- By:
- Publication type:
- Article
Extramedullary myeloma whole genome sequencing reveals novel mutations in Cereblon, proteasome subunit G2 and the glucocorticoid receptor in multi drug resistant disease.
- Published in:
- British Journal of Haematology, 2013, v. 161, n. 5, p. 748, doi. 10.1111/bjh.12291
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- Publication type:
- Article
In vitro-differentiated neural cell cultures progress towards donor-identical brain tissue.
- Published in:
- Human Molecular Genetics, 2013, v. 22, n. 17, p. 3534, doi. 10.1093/hmg/ddt208
- By:
- Publication type:
- Article
Association of CR1, CLU and PICALM with Alzheimer's disease in a cohort of clinically characterized and neuropathologically verified individuals.
- Published in:
- Human Molecular Genetics, 2010, v. 19, n. 16, p. 3295, doi. 10.1093/hmg/ddq221
- By:
- Publication type:
- Article
Calmodulin-binding transcription activator 1 (CAMTA1) alleles predispose human episodic memory performance.
- Published in:
- Human Molecular Genetics, 2007, v. 16, n. 12, p. 1469, doi. 10.1093/hmg/ddm097
- By:
- Publication type:
- Article
Genomic Copy Number Analysis in Alzheimer's Disease and Mild Cognitive Impairment: An ADNI Study.
- Published in:
- 2011
- By:
- Publication type:
- Journal Article
Genomic Copy Number Analysis in Alzheimer's Disease and Mild Cognitive Impairment: An ADNI Study.
- Published in:
- International Journal of Alzheimer's Disease, 2011, v. 2011, p. 1, doi. 10.4061/2011/729478
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- Publication type:
- Article
Characterization of X Chromosome Inactivation Using Integrated Analysis of Whole-Exome and mRNA Sequencing.
- Published in:
- PLoS ONE, 2014, v. 9, n. 12, p. 1, doi. 10.1371/journal.pone.0113036
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- Publication type:
- Article
Whole Genome Analyses of a Well-Differentiated Liposarcoma Reveals Novel <i>SYT1</i> and <i>DDR2</i> Rearrangements.
- Published in:
- PLoS ONE, 2014, v. 9, n. 2, p. 1, doi. 10.1371/journal.pone.0087113
- By:
- Publication type:
- Article
A Pilot Study Using Next-Generation Sequencing in Advanced Cancers: Feasibility and Challenges.
- Published in:
- PLoS ONE, 2013, v. 8, n. 10, p. 1, doi. 10.1371/journal.pone.0076438
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- Publication type:
- Article
Genome-Wide Characterization of Pancreatic Adenocarcinoma Patients Using Next Generation Sequencing.
- Published in:
- PLoS ONE, 2012, v. 7, n. 10, p. 1, doi. 10.1371/journal.pone.0043192
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- Publication type:
- Article
Paired Tumor and Normal Whole Genome Sequencing of Metastatic Olfactory Neuroblastoma.
- Published in:
- PLoS ONE, 2012, v. 7, n. 5, p. 1, doi. 10.1371/journal.pone.0037029
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- Publication type:
- Article
Autism and Increased Paternal Age Related Changes in Global Levels of Gene Expression Regulation.
- Published in:
- PLoS ONE, 2011, v. 6, n. 2, p. 1, doi. 10.1371/journal.pone.0016715
- By:
- Publication type:
- Article
Identification of a Novel Risk Locus for Multiple Sclerosis at 13q31.3 by a Pooled Genome-Wide Scan of 500,000 Single Nucleotide Polymorphisms.
- Published in:
- PLoS ONE, 2008, v. 3, n. 10, p. 1, doi. 10.1371/journal.pone.0003490
- By:
- Publication type:
- Article
Cerebellar Telomere Length and Psychiatric Disorders.
- Published in:
- Behavior Genetics, 2010, v. 40, n. 2, p. 250, doi. 10.1007/s10519-010-9338-0
- By:
- Publication type:
- Article
Preliminary analysis of copy number variation in the ADNI cohort
- Published in:
- 2010
- By:
- Publication type:
- Abstract
Genome-wide association study of CSF biomarkers amyloid beta 1-42, tau and tau phosphorylated at threonine 181 in the ADNI cohort
- Published in:
- 2010
- By:
- Publication type:
- Abstract
Preliminary analysis of copy number variation in the ADNI cohort
- Published in:
- 2010
- By:
- Publication type:
- Abstract
Alzheimer's Disease Neuroimaging Initiative biomarkers as quantitative phenotypes: Genetics core aims, progress, and plans
- Published in:
- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2010, v. 6, n. 3, p. 265, doi. 10.1016/j.jalz.2010.03.013
- By:
- Publication type:
- Article
P3-163: Identification of a novel risk gene for progressive supranuclear palsy by a genome-wide scan of 500,288 SNPs
- Published in:
- 2006
- By:
- Publication type:
- Abstract
P3-163: Identification of a novel risk gene for progressive supranuclear palsy by a genome-wide scan of 500,288 SNPs
- Published in:
- 2006
- By:
- Publication type:
- Abstract
Genetic variants at 6p21.33 are associated with susceptibility to follicular lymphoma.
- Published in:
- Nature Genetics, 2009, v. 41, n. 8, p. 873, doi. 10.1038/ng.419
- By:
- Publication type:
- Article
Common sequence variants on 20q11.22 confer melanoma susceptibility.
- Published in:
- Nature Genetics, 2008, v. 40, n. 7, p. 838, doi. 10.1038/ng.163
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- Publication type:
- Article
A survey of genetic human cortical gene expression.
- Published in:
- Nature Genetics, 2007, v. 39, n. 12, p. 1494, doi. 10.1038/ng.2007.16
- By:
- Publication type:
- Article
Identification of genetic variants using bar-coded multiplexed sequencing.
- Published in:
- Nature Methods, 2008, v. 5, n. 10, p. 887, doi. 10.1038/nmeth.1251
- By:
- Publication type:
- Article