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Blood DNA methylomic signatures associated with CSF biomarkers of Alzheimer's disease in the EMIF‐AD study.
- Published in:
- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2024, v. 20, n. 10, p. 6722, doi. 10.1002/alz.14098
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- Article
A duplication in 1q21.3 in a family with early onset and childhood absence epilepsy.
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- Epilepsia (Series 4), 2010, v. 51, n. 12, p. 2453, doi. 10.1111/j.1528-1167.2010.02712.x
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- Article
High-throughput method for the hybridisation-based targeted enrichment of long genomic fragments for PacBio third-generation sequencing.
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- NAR Genomics & Bioinformatics, 2022, v. 4, n. 3, p. 1, doi. 10.1093/nargab/lqac051
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- Article
Genetic Association and Differential RNA Expression of Histone (De)Acetylation-Related Genes in Pemphigus Foliaceus—A Possible Epigenetic Effect in the Autoimmune Response.
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- Life (2075-1729), 2024, v. 14, n. 1, p. 60, doi. 10.3390/life14010060
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- Article
Development of a high-resolution NGS-based HLA-typing and analysis pipeline.
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- Nucleic Acids Research, 2015, v. 43, n. 11, p. 1, doi. 10.1093/nar/gkv184
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- Publication type:
- Article
From next-generation sequencing alignments to accurate comparison and validation of single-nucleotide variants: the pibase software.
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- Nucleic Acids Research, 2013, v. 41, n. 1, p. e16, doi. 10.1093/nar/gks836
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- Article
Efficacy assessment of SNP sets for genome-wide disease association studies.
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- Nucleic Acids Research, 2007, v. 35, n. 17, p. e113, doi. 10.1093/nar/gkm621
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- Article
Identifying genetic modifiers of age-associated penetrance in X-linked dystonia-parkinsonism.
- Published in:
- Nature Communications, 2021, v. 12, n. 1, p. 1, doi. 10.1038/s41467-021-23491-4
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- Publication type:
- Article
Genome-wide association study for ulcerative colitis identifies risk loci at 7q22 and 22q13 (IL17REL).
- Published in:
- Nature Genetics, 2010, v. 42, n. 4, p. 292, doi. 10.1038/ng.553
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- Article
A genome-wide association scan identifies the hepatic cholesterol transporter ABCG8 as a susceptibility factor for human gallstone disease.
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- Nature Genetics, 2007, v. 39, n. 8, p. 995, doi. 10.1038/ng2101
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- Article
Genome-wide rare copy number variation screening in ulcerative colitis identifies potential susceptibility loci.
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- BMC Medical Genetics, 2016, v. 17, p. 1, doi. 10.1186/s12881-016-0289-z
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- Article
Association mapping of morphological traits in wild and captive zebra finches: reliable within, but not between populations.
- Published in:
- Molecular Ecology, 2017, v. 26, n. 5, p. 1285, doi. 10.1111/mec.14009
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- Article
Genetic variability of immune‐related lncRNAs: polymorphisms in LINC‐PINT and LY86‐AS1 are associated with pemphigus foliaceus susceptibility.
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- Experimental Dermatology, 2021, v. 30, n. 6, p. 831, doi. 10.1111/exd.14275
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- Article
Whole‐exome and HLA sequencing in Febrile infection‐related epilepsy syndrome.
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- Annals of Clinical & Translational Neurology, 2020, v. 7, n. 8, p. 1429, doi. 10.1002/acn3.51062
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- Article
Genetic Associations and Differential mRNA Expression Levels of Host Genes Suggest a Viral Trigger for Endemic Pemphigus Foliaceus.
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- Viruses (1999-4915), 2022, v. 14, n. 5, p. 879, doi. 10.3390/v14050879
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- Article
Identification of two novel bullous pemphigoid- associated alleles, HLA-DQA1*05:05 and -DRB1*07:01, in Germans.
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- 2021
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- Publication type:
- Letter
Interaction between mating-type proteins from the homothallic fungus Sordaria macrospora.
- Published in:
- Current Genetics, 2002, v. 41, n. 3, p. 150, doi. 10.1007/s00294-002-0276-0
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- Article
Genome-wide meta-analysis of short-tandem repeats for Parkinson's disease risk using genotype imputation.
- Published in:
- Brain Communications, 2024, v. 6, n. 3, p. 1, doi. 10.1093/braincomms/fcae146
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- Publication type:
- Article
Construction and benchmarking of a multi-ethnic reference panel for the imputation of HLA class I and II alleles.
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- Human Molecular Genetics, 2019, v. 28, n. 12, p. 2078, doi. 10.1093/hmg/ddy443
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- Article
16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy.
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- Human Molecular Genetics, 2014, v. 23, n. 22, p. 6069, doi. 10.1093/hmg/ddu306
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- Article
Ancient DNA study reveals HLA susceptibility locus for leprosy in medieval Europeans.
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- Nature Communications, 2018, v. 9, n. 1, p. 1, doi. 10.1038/s41467-018-03857-x
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- Article
Fitness consequences of polymorphic inversions in the zebra finch genome.
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- Genome Biology, 2016, v. 17, p. 1, doi. 10.1186/s13059-016-1056-3
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- Article
The Marquesan Adventure of John Minor Maury.
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- International Journal of Maritime History, 2023, v. 35, n. 2, p. 186, doi. 10.1177/08438714231161935
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- Publication type:
- Article
Systematic evaluation of the effect of common SNPs on pre-mRNA splicing.
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- Human Mutation, 2009, v. 30, n. 4, p. 625, doi. 10.1002/humu.20906
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- Publication type:
- Article
Single base-pair substitutions in exon-intron junctions of human genes: nature, distribution, and consequences for mRNA splicing.
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- Human Mutation, 2007, v. 28, n. 2, p. 150, doi. 10.1002/humu.20400
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- Publication type:
- Article
GENOMIZER: an integrated analysis system for genome-wide association data.
- Published in:
- Human Mutation, 2006, v. 27, n. 6, p. 583, doi. 10.1002/humu.20306
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- Publication type:
- Article
Familial and sporadic 15q13.3 microdeletions in idiopathic generalized epilepsy: precedent for disorders with complex inheritance.
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- Human Molecular Genetics, 2009, v. 18, n. 19, p. 3626
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- Article
Validity and Prognostic Value of a Polygenic Risk Score for Parkinson's Disease.
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- Genes, 2021, v. 12, n. 12, p. 1859, doi. 10.3390/genes12121859
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- Publication type:
- Article
A tissue-specific landscape of sense/antisense transcription in the mouse intestine.
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- BMC Genomics, 2011, v. 12, p. 1, doi. 10.1186/1471-2164-12-305
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- Publication type:
- Article
A tissue-specific landscape of sense/antisense transcription in the mouse intestine.
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- BMC Genomics, 2011, v. 12, n. 1, p. 305, doi. 10.1186/1471-2164-12-305
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- Article
CNVineta: a data mining tool for large case–control copy number variation datasets.
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- Bioinformatics, 2010, v. 26, n. 17, p. 2208, doi. 10.1093/bioinformatics/btq356
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- Article
A post-GWAS analysis of predicted regulatory variants and tuberculosis susceptibility.
- Published in:
- PLoS ONE, 2017, v. 12, n. 4, p. 1, doi. 10.1371/journal.pone.0174738
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- Article