Found: 23
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Effects of genetically predicted posttraumatic stress disorder on autoimmune phenotypes.
- Published in:
- Translational Psychiatry, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41398-024-02869-0
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- Article
Control-independent mosaic single nucleotide variant detection with DeepMosaic.
- Published in:
- Nature Biotechnology, 2023, v. 41, n. 6, p. 870, doi. 10.1038/s41587-022-01559-w
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- Publication type:
- Article
Exome sequencing analysis of Japanese autism spectrum disorder case-control sample supports an increased burden of synaptic function-related genes.
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- Translational Psychiatry, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41398-022-02033-6
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- Article
Customized de novo mutation detection for any variant calling pipeline: SynthDNM.
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- Bioinformatics, 2021, v. 37, n. 20, p. 3640, doi. 10.1093/bioinformatics/btab225
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- Article
Inferring the molecular and phenotypic impact of amino acid variants with MutPred2.
- Published in:
- Nature Communications, 2020, v. 11, n. 1, p. 1, doi. 10.1038/s41467-020-19669-x
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- Article
Common DNA sequence variation influences 3-dimensional conformation of the human genome.
- Published in:
- Genome Biology, 2019, v. 20, n. 1, p. N.PAG, doi. 10.1186/s13059-019-1855-4
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- Publication type:
- Article
Ranking of non-coding pathogenic variants and putative essential regions of the human genome.
- Published in:
- Nature Communications, 2019, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41467-019-13212-3
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- Publication type:
- Article
Pathogenicity and functional impact of non-frameshifting insertion/deletion variation in the human genome.
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- PLoS Computational Biology, 2019, v. 15, n. 6, p. 1, doi. 10.1371/journal.pcbi.1007112
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- Article
Marker chromosome genomic structure and temporal origin implicate a chromoanasynthesis event in a family with pleiotropic psychiatric phenotypes.
- Published in:
- Human Mutation, 2018, v. 39, n. 7, p. 939, doi. 10.1002/humu.23537
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- Publication type:
- Article
SV<sup>2</sup>: accurate structural variation genotyping and de novo mutation detection from whole genomes.
- Published in:
- Bioinformatics, 2018, v. 34, n. 10, p. 1774, doi. 10.1093/bioinformatics/btx813
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- Publication type:
- Article
When loss-of-function is loss of function: assessing mutational signatures and impact of loss-of-function genetic variants.
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- Bioinformatics, 2017, v. 33, n. 14, p. i389, doi. 10.1093/bioinformatics/btx272
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- Publication type:
- Article
The Influence of Microdeletions and Microduplications of 16p11.2 on Global Transcription Profiles.
- Published in:
- Journal of Child Neurology, 2015, v. 30, n. 14, p. 1947, doi. 10.1177/0883073815602066
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- Publication type:
- Article
forestSV: structural variant discovery through statistical learning.
- Published in:
- Nature Methods, 2012, v. 9, n. 8, p. 819, doi. 10.1038/nmeth.2085
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- Article
Genetics: Fish heads and human disease.
- Published in:
- Nature, 2012, v. 485, n. 7398, p. 318, doi. 10.1038/485318a
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- Article
Modelling schizophrenia using human induced pluripotent stem cells.
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- 2011
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- Correction notice
Reduced transcript expression of genes affected by inherited and de novo CNVs in autism.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 6, p. 727, doi. 10.1038/ejhg.2011.24
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- Article
Modelling schizophrenia using human induced pluripotent stem cells.
- Published in:
- Nature, 2011, v. 473, n. 7346, p. 221, doi. 10.1038/nature09915
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- Publication type:
- Article
Reduced NMDAR1 expression in the Sp4 hypomorphic mouse may contribute to endophenotypes of human psychiatric disorders.
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- Human Molecular Genetics, 2010, v. 19, n. 19, p. 3797, doi. 10.1093/hmg/ddq298
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- Publication type:
- Article
Computing Power and Sample Size for Case-Control Association Studies with Copy Number Polymorphism: Application of Mixture-Based Likelihood Ratio Test.
- Published in:
- PLoS ONE, 2008, v. 3, n. 10, p. 1, doi. 10.1371/journal.pone.0003475
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- Article
Major changes in our DNA lead to major changes in our thinking.
- Published in:
- Nature Genetics, 2007, v. 39, p. S3, doi. 10.1038/ng2095
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- Article
Completing the map of human genetic variation.
- Published in:
- Nature, 2007, v. 447, n. 7141, p. 161, doi. 10.1038/447161a
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- Publication type:
- Article
PROBER: oligonucleotide FISH probe design software.
- Published in:
- Bioinformatics, 2006, v. 22, n. 19, p. 2437, doi. 10.1093/bioinformatics/btl273
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- Publication type:
- Article
A Pseudomonas stutzeri gene cluster encoding the biosynthesis of the CCl<sub>4</sub>-dechlorination agent pyridine-2,6-bis(thiocarboxylic acid).
- Published in:
- Environmental Microbiology, 2000, v. 2, n. 4, p. 407, doi. 10.1046/j.1462-2920.2000.00122.x
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- Publication type:
- Article