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Chromosomal phase improves aneuploidy detection in non-invasive prenatal testing at low fetal DNA fractions.
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- Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-14049-5
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- Article
Evidence of Common Genetic Overlap Between Schizophrenia and Cognition.
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- Schizophrenia Bulletin, 2016, v. 42, n. 3, p. 832, doi. 10.1093/schbul/sbv168
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- Article
Key Roles of CACNA1C/Cav1.2 and CALB1/Calbindin in Prefrontal Neurons Altered in Cognitive Disorders.
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- JAMA Psychiatry, 2024, v. 81, n. 9, p. 870, doi. 10.1001/jamapsychiatry.2024.1112
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Mutation intolerant genes and targets of FMRP are enriched for nonsynonymous alleles in schizophrenia.
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- American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2017, v. 174, n. 7, p. 724, doi. 10.1002/ajmg.b.32560
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Mapping duplicated sequences.
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- Nature Biotechnology, 2009, v. 27, n. 11, p. 1001, doi. 10.1038/nbt1109-1001
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Structural forms of the human amylase locus and their relationships to SNPs, haplotypes and obesity.
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- Nature Genetics, 2015, v. 47, n. 8, p. 921, doi. 10.1038/ng.3340
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Large multiallelic copy number variations in humans.
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- Nature Genetics, 2015, v. 47, n. 3, p. 296, doi. 10.1038/ng.3200
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Using population admixture to help complete maps of the human genome.
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- Nature Genetics, 2013, v. 45, n. 4, p. 406, doi. 10.1038/ng.2565
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Structural haplotypes and recent evolution of the human 17q21.31 region.
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- Nature Genetics, 2012, v. 44, n. 8, p. 881, doi. 10.1038/ng.2334
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Exploring the variation within.
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- Nature Genetics, 2012, v. 44, n. 6, p. 614, doi. 10.1038/ng.2311
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Discovery and genotyping of genome structural polymorphism by sequencing on a population scale.
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- Nature Genetics, 2011, v. 43, n. 3, p. 269, doi. 10.1038/ng.768
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Copy number variation and human genome maps.
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- Nature Genetics, 2010, v. 42, n. 5, p. 365, doi. 10.1038/ng0510-365
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Donor-recipient mismatch for common gene deletion polymorphisms in graft-versus-host disease.
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- Nature Genetics, 2009, v. 41, n. 12, p. 1341, doi. 10.1038/ng.490
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- Article
De novo copy number variants identify new genes and loci in isolated sporadic tetralogy of Fallot.
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- Nature Genetics, 2009, v. 41, n. 8, p. 931, doi. 10.1038/ng.415
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- Article
Six new loci associated with body mass index highlight a neuronal influence on body weight regulation.
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- Nature Genetics, 2009, v. 41, n. 1, p. 25, doi. 10.1038/ng.287
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Integrated detection and population-genetic analysis of SNPs and copy number variation.
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- Nature Genetics, 2008, v. 40, n. 10, p. 1166, doi. 10.1038/ng.238
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Integrated genotype calling and association analysis of SNPs, common copy number polymorphisms and rare CNVs.
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- Nature Genetics, 2008, v. 40, n. 10, p. 1253, doi. 10.1038/ng.237
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- Article
Deletion polymorphism upstream of IRGM associated with altered IRGM expression and Crohn's disease.
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- Nature Genetics, 2008, v. 40, n. 9, p. 1107, doi. 10.1038/ng.215
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Copy-number analysis goes more than skin deep.
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- Nature Genetics, 2008, v. 40, n. 1, p. 5, doi. 10.1038/ng0108-5
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Copy-number variation and association studies of human disease.
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- Nature Genetics, 2007, v. 39, p. S37, doi. 10.1038/ng2080
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New insights into the biological basis of genomic disorders.
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- Nature Genetics, 2006, v. 38, n. 12, p. 1363, doi. 10.1038/ng1206-1363
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Common deletion polymorphisms in the human genome.
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- Nature Genetics, 2006, v. 38, n. 1, p. 86, doi. 10.1038/ng1696
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Comparing genomic expression patterns across species identifies shared transcriptional profile in aging.
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- Nature Genetics, 2004, v. 36, n. 2, p. 197, doi. 10.1038/ng1291
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Common α-globin variants modify hematologic and other clinical phenotypes in sickle cell trait and disease.
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- PLoS Genetics, 2018, v. 14, n. 3, p. 1, doi. 10.1371/journal.pgen.1007293
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BCFtools/liftover: an accurate and comprehensive tool to convert genetic variants across genome assemblies.
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- Bioinformatics, 2024, v. 40, n. 2, p. 1, doi. 10.1093/bioinformatics/btae038
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High-dimensional phenotyping to define the genetic basis of cellular morphology.
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- Nature Communications, 2024, v. 15, n. 1, p. 1, doi. 10.1038/s41467-023-44045-w
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A Rapid Molecular Approach for Chromosomal Phasing.
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- PLoS ONE, 2015, v. 10, n. 3, p. 1, doi. 10.1371/journal.pone.0118270
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SnapShot-Seq: A Method for Extracting Genome-Wide, <i>In Vivo</i> mRNA Dynamics from a Single Total RNA Sample.
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- PLoS ONE, 2014, v. 9, n. 2, p. 1, doi. 10.1371/journal.pone.0089673
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- Article
Genetic association analysis highlights new loci that modulate hematological trait variation in Caucasians and African Americans.
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- Human Genetics, 2011, v. 129, n. 3, p. 307, doi. 10.1007/s00439-010-0925-1
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- Article
Brain single cell transcriptomic profiles in episodic memory phenotypes associated with temporal lobe epilepsy.
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- NPJ Genomic Medicine, 2022, v. 7, n. 1, p. 1, doi. 10.1038/s41525-022-00339-4
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- Article
No evidence for rare recessive and compound heterozygous disruptive variants in schizophrenia.
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- European Journal of Human Genetics, 2015, v. 23, n. 4, p. 555, doi. 10.1038/ejhg.2014.228
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Genome-wide detection and characterization of positive selection in human populations.
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- Nature, 2007, v. 449, n. 7164, p. 913, doi. 10.1038/nature06250
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- Article
The genomics of major psychiatric disorders in a large pedigree from Northern Sweden.
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- Translational Psychiatry, 2019, v. 9, n. 1, p. 1, doi. 10.1038/s41398-019-0414-9
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Polygenic risk for schizophrenia and measured domains of cognition in individuals with psychosis and controls.
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- Translational Psychiatry, 2018, v. 8, n. 1, p. 1, doi. 10.1038/s41398-018-0124-8
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- Article
Improved detection of global copy number variation using high density, non-polymorphic oligonucleotide probes.
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- BMC Genetics, 2008, v. 9, p. 1, doi. 10.1186/1471-2156-9-27
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- Article
Increased neutrophil extracellular trap formation promotes thrombosis in myeloproliferative neoplasms.
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- Science Translational Medicine, 2018, v. 10, n. 436, p. 1, doi. 10.1126/scitranslmed.aan8292
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- Article
Genes that act downstream of DAF-16 to influence the lifespan of Caenorhabditis elegans.
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- Nature, 2003, v. 424, n. 6946, p. 277, doi. 10.1038/nature01789
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- Article
De novo CNVs in bipolar affective disorder and schizophrenia.
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- Human Molecular Genetics, 2014, v. 23, n. 24, p. 6677, doi. 10.1093/hmg/ddu379
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Evaluation of Common Variants in the Six Known Maturity-Onset Diabetes of the Young (MODY) Genes for Association With Type 2 Diabetes.
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- Diabetes, 2007, v. 56, n. 3, p. 685, doi. 10.2337/db06-0202
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Single cell analysis of DNA in more than 10,000 individual sperm from men with abnormal reproductive outcomes.
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- Journal of Assisted Reproduction & Genetics, 2021, v. 38, n. 11, p. 2975, doi. 10.1007/s10815-021-02300-3
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Genome-scale neurogenetics: methodology and meaning.
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- Nature Neuroscience, 2014, v. 17, n. 6, p. 756, doi. 10.1038/nn.3716
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A whole-genome sequence study identifies genetic risk factors for neuromyelitis optica.
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- Nature Communications, 2018, v. 9, n. 1, p. 1, doi. 10.1038/s41467-018-04332-3
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- Article
Single-Tissue and Cross-Tissue Heritability of Gene Expression Via Identity-by-Descent in Related or Unrelated Individuals.
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- PLoS Genetics, 2011, v. 7, n. 2, p. 1, doi. 10.1371/journal.pgen.1001317
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Mapping a New Spontaneous Preterm Birth Susceptibility Gene, IGF1R, Using Linkage, Haplotype Sharing, and Association Analysis.
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- PLoS Genetics, 2011, v. 7, n. 2, p. 1, doi. 10.1371/journal.pgen.1001293
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- Article
Extending genome-wide association studies to copy-number variation.
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- Human Molecular Genetics, 2008, v. 17, n. R2, p. R135, doi. 10.1093/hmg/ddn282
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- Article
Complex and multi-allelic copy number variation in human disease.
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- Briefings in Functional Genomics, 2015, v. 14, n. 5, p. 329, doi. 10.1093/bfgp/elv028
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zCall: a rare variant caller for array-based genotyping.
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- Bioinformatics, 2012, v. 28, n. 19, p. 2543, doi. 10.1093/bioinformatics/bts479
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