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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
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
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
Multi‐omic molecular profiling guide's efficacious treatment selection in refractory metastatic breast cancer: a prospective phase II clinical trial.
- Published in:
- Molecular Oncology, 2022, v. 16, n. 1, p. 104, doi. 10.1002/1878-0261.13091
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- 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
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- Publication type:
- Article
Multiethnic PDX models predict a possible immune signature associated with TNBC of African ancestry.
- Published in:
- Breast Cancer Research & Treatment, 2021, v. 186, n. 2, p. 391, doi. 10.1007/s10549-021-06097-8
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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
Small RNA Deep Sequencing Identifies a Unique miRNA Signature Released in Serum Exosomes in a Mouse Model of Sjögren's Syndrome.
- Published in:
- Frontiers in Immunology, 2020, v. 11, p. 1, doi. 10.3389/fimmu.2020.01475
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- Publication type:
- Article
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
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- 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
Front Cover, Volume 41, Issue 2.
- Published in:
- Human Mutation, 2020, v. 41, n. 2, p. i, doi. 10.1002/humu.23982
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- 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
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- Publication type:
- Article
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
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- Publication type:
- Article
A novel FBXO28 frameshift mutation in a child with developmental delay, dysmorphic features, and intractable epilepsy: A second gene that may contribute to the 1q41‐q42 deletion phenotype.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 7, p. 1549, doi. 10.1002/ajmg.a.38712
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- Publication type:
- Article
A method to reduce ancestry related germline false positives in tumor only somatic variant calling.
- Published in:
- BMC Medical Genomics, 2017, v. 10, p. 1, doi. 10.1186/s12920-017-0296-8
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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
Dystonia in ATP2B3-associated X-linked spinocerebellar ataxia.
- Published in:
- 2016
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- Publication type:
- case study
Molecular Genetic Profiling of Adolescent Glassy Cell Carcinoma of the Cervix Reveals Targetable EGFR Amplification with Potential Therapeutic Implications.
- Published in:
- Journal of Adolescent & Young Adult Oncology, 2016, v. 5, n. 3, p. 297, doi. 10.1089/jayao.2015.0068
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- Publication type:
- Article
A somatic reference standard for cancer genome sequencing.
- Published in:
- Scientific Reports, 2016, p. 24607, doi. 10.1038/srep24607
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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
A Frame-Shift Mutation in CAV1 Is Associated with a Severe Neonatal Progeroid and Lipodystrophy Syndrome.
- Published in:
- PLoS ONE, 2015, v. 10, n. 7, p. 1, doi. 10.1371/journal.pone.0131797
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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
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- Publication type:
- Article
No Safe Haven: Locations of Harassment and Bullying Victimization in Middle Schools.
- Published in:
- 2014
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- Publication type:
- Journal 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
Bringing RNA-seq closer to the clinic.
- Published in:
- Nature Biotechnology, 2014, v. 32, n. 9, p. 884, doi. 10.1038/nbt.3017
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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
Whole genome sequencing reveals potential targets for therapy in patients with refractory KRAS mutated metastatic colorectal cancer.
- Published in:
- BMC Medical Genomics, 2014, v. 7, n. 1, p. 3, doi. 10.1186/1755-8794-7-36
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- Publication type:
- Article
Corrigendum: Small cell carcinoma of the ovary, hypercalcemic type, displays frequent inactivating germline and somatic mutations in SMARCA4.
- Published in:
- Nature Genetics, 2014, v. 46, n. 7, p. 759, doi. 10.1038/ng0714-759a
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- Publication type:
- Article
Small cell carcinoma of the ovary, hypercalcemic type, displays frequent inactivating germline and somatic mutations in SMARCA4.
- Published in:
- Nature Genetics, 2014, v. 46, n. 5, p. 427, doi. 10.1038/ng.2928
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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
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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
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- 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
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
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
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- 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
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
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- Publication type:
- Article
Plasma cytokine profiling in sibling pairs discordant for autism spectrum disorder.
- Published in:
- 2013
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- Publication type:
- journal 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
Cancer of the ampulla of Vater: analysis of the whole genome sequence exposes a potential therapeutic vulnerability.
- Published in:
- Genome Medicine, 2012, v. 4, n. 7, p. 1, doi. 10.1186/gm357
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- Publication type:
- Article
Student-Athletes' Misperceptions of Male and Female Peer Drinking Norms: A Multi-Site Investigation of the "Reign of Error.".
- Published in:
- Journal of College Student Development, 2012, v. 53, n. 3, p. 367, doi. 10.1353/csd.2012.0046
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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
Assessing and managing risk when sharing aggregate genetic variant data.
- Published in:
- 2011
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- Publication type:
- Correction notice
Assessing and managing risk when sharing aggregate genetic variant data.
- Published in:
- 2011
- By:
- Publication type:
- review
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
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- Publication type:
- 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
Genomic Copy Number Analysis in Alzheimer's Disease and Mild Cognitive Impairment: An ADNI Study.
- Published in:
- 2011
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- Publication type:
- Journal 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
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- Publication type:
- Article
Preliminary analysis of copy number variation in the ADNI cohort
- Published in:
- 2010
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- Publication type:
- Abstract