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Screening for functional regulatory variants in open chromatin using GenIE-ATAC.
- Published in:
- Nucleic Acids Research, 2023, v. 51, n. 11, p. e64, doi. 10.1093/nar/gkad332
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- Publication type:
- Article
next-generation Open Targets Platform: reimagined, redesigned, rebuilt.
- Published in:
- Nucleic Acids Research, 2023, v. 51, n. D1, p. D1353, doi. 10.1093/nar/gkac1046
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- Publication type:
- Article
Screening for functional transcriptional and splicing regulatory variants with GenIE.
- Published in:
- Nucleic Acids Research, 2020, v. 48, n. 22, p. e131, doi. 10.1093/nar/gkaa960
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- Publication type:
- Article
Genome-wide association study of developmental dysplasia of the hip identifies an association with GDF5.
- Published in:
- Communications Biology, 2018, v. 1, n. 1, p. N.PAG, doi. 10.1038/s42003-018-0052-4
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- Publication type:
- Article
Genetic variants associated with psychiatric disorders are enriched at epigenetically active sites in lymphoid cells.
- Published in:
- Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-33885-7
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- Publication type:
- Article
Genome-Wide Mouse Mutagenesis Reveals CD45-Mediated T Cell Function as Critical in Protective Immunity to HSV-1.
- Published in:
- PLoS Pathogens, 2013, v. 9, n. 9, p. 1, doi. 10.1371/journal.ppat.1003637
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- Publication type:
- Article
Mutations in SETD2 and genes affecting histone H3K36 methylation target hemispheric high-grade gliomas.
- Published in:
- Acta Neuropathologica, 2013, v. 125, n. 5, p. 659, doi. 10.1007/s00401-013-1095-8
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- Publication type:
- Article
Frequent ATRX mutations and loss of expression in adult diffuse astrocytic tumors carrying IDH1/ IDH2 and TP53 mutations.
- Published in:
- Acta Neuropathologica, 2012, v. 124, n. 5, p. 615, doi. 10.1007/s00401-012-1031-3
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- Publication type:
- Article
K27M mutation in histone H3.3 defines clinically and biologically distinct subgroups of pediatric diffuse intrinsic pontine gliomas.
- Published in:
- Acta Neuropathologica, 2012, v. 124, n. 3, p. 439, doi. 10.1007/s00401-012-0998-0
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- Publication type:
- Article
Very low-depth whole-genome sequencing in complex trait association studies.
- Published in:
- Bioinformatics, 2019, v. 35, n. 15, p. 2555, doi. 10.1093/bioinformatics/bty1032
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- Publication type:
- Article
A rare functional cardioprotective APOC3 variant has risen in frequency in distinct population isolates.
- Published in:
- Nature Communications, 2013, v. 4, n. 12, p. 2872, doi. 10.1038/ncomms3872
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- Publication type:
- Article
Toward a Computational Tool Predicting the Stereochemical Outcome of Asymmetric Reactions: Development and Application of a Rapid and Accurate Program Based on Organic Principles.
- Published in:
- Angewandte Chemie International Edition, 2008, v. 47, n. 14, p. 2635, doi. 10.1002/anie.200704774
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- Publication type:
- Article
Erratum: CTP synthase 1 deficiency in humans reveals its central role in lymphocyte proliferation.
- Published in:
- Nature, 2014, v. 511, n. 7509, p. 370, doi. 10.1038/nature13571
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- Publication type:
- Article
CTP synthase 1 deficiency in humans reveals its central role in lymphocyte proliferation.
- Published in:
- Nature, 2014, v. 510, n. 7504, p. 288, doi. 10.1038/nature13386
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- Publication type:
- Article
Corrigendum: Driver mutations in histone H3.3 and chromatin remodelling genes in paediatric glioblastoma.
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- 2012
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- Publication type:
- Erratum
Clonal selection drives genetic divergence of metastatic medulloblastoma.
- Published in:
- Nature, 2012, v. 482, n. 7386, p. 529, doi. 10.1038/nature10825
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- Publication type:
- Article
Driver mutations in histone H3.3 and chromatin remodelling genes in paediatric glioblastoma.
- Published in:
- Nature, 2012, v. 482, n. 7384, p. 226, doi. 10.1038/nature10833
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- Publication type:
- Article
A proteome- wide genetic investigation identifies several SARS- CoV-2- exploited host targets of clinical relevance.
- Published in:
- eLife, 2021, p. 1, doi. 10.7554/eLife.69719
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- Publication type:
- Article
An N-terminal formyl methionine on COX 1 is required for the assembly of cytochrome c oxidase.
- Published in:
- Human Molecular Genetics, 2015, v. 24, n. 14, p. 4103, doi. 10.1093/hmg/ddv149
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- Publication type:
- Article
Whole genome sequencing and imputation in isolated populations identify genetic associations with medically-relevant complex traits.
- Published in:
- Nature Communications, 2017, v. 8, n. 5, p. 15606, doi. 10.1038/ncomms15606
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- Publication type:
- Article
Disrupted auto-regulation of the spliceosomal gene SNRPB causes cerebro-costo-mandibular syndrome.
- Published in:
- Nature Communications, 2014, v. 5, n. 7, p. 4483, doi. 10.1038/ncomms5483
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- Publication type:
- Article
Bridging the Gap between Single Molecule and Ensemble Methods for Measuring Lateral Dynamics in the Plasma Membrane.
- Published in:
- PLoS ONE, 2013, v. 8, n. 12, p. 1, doi. 10.1371/journal.pone.0078096
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- Publication type:
- Article
Correction to: Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia.
- Published in:
- Orphanet Journal of Rare Diseases, 2022, v. 17, n. 1, p. 1, doi. 10.1186/s13023-022-02297-7
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- Publication type:
- Article
Artificial intelligence for dementia genetics and omics.
- Published in:
- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2023, v. 19, n. 12, p. 5905, doi. 10.1002/alz.13427
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- Publication type:
- Article
Recurrent somatic mutations in ACVR1 in pediatric midline high-grade astrocytoma.
- Published in:
- Nature Genetics, 2014, v. 46, n. 5, p. 462, doi. 10.1038/ng.2950
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- Publication type:
- Article
De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome.
- Published in:
- Nature Genetics, 2014, v. 46, n. 5, p. 510, doi. 10.1038/ng.2948
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- Publication type:
- Article
Fusion of TTYH1 with the C19MC microRNA cluster drives expression of a brain-specific DNMT3B isoform in the embryonal brain tumor ETMR.
- Published in:
- Nature Genetics, 2014, v. 46, n. 1, p. 39, doi. 10.1038/ng.2849
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- Publication type:
- Article
Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly-capillary malformation syndrome.
- Published in:
- Nature Genetics, 2013, v. 45, n. 5, p. 556, doi. 10.1038/ng.2602
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- Publication type:
- Article
De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes.
- Published in:
- Nature Genetics, 2012, v. 44, n. 8, p. 934, doi. 10.1038/ng.2331
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- Publication type:
- Article
Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration.
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- Nature Genetics, 2012, v. 44, n. 9, p. 1035, doi. 10.1038/ng.2356
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- Publication type:
- Article
A family segregating lethal neonatal coenzyme Q<sub>10</sub> deficiency caused by mutations in COQ9.
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- Journal of Inherited Metabolic Disease, 2018, v. 41, n. 4, p. 719, doi. 10.1007/s10545-017-0122-7
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- Publication type:
- Article
Mutations in FLNC are Associated with Familial Restrictive Cardiomyopathy.
- Published in:
- Human Mutation, 2016, v. 37, n. 3, p. 269, doi. 10.1002/humu.22942
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- Publication type:
- Article
GeneMatcher Aids in the Identification of a New Malformation Syndrome with Intellectual Disability, Unique Facial Dysmorphisms, and Skeletal and Connective Tissue Abnormalities Caused by De Novo Variants in HNRNPK.
- Published in:
- Human Mutation, 2015, v. 36, n. 10, p. 1009, doi. 10.1002/humu.22837
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- Publication type:
- Article
Mutation in The Nuclear-Encoded Mitochondrial Isoleucyl-tRNA Synthetase IARS2 in Patients with Cataracts, Growth Hormone Deficiency with Short Stature, Partial Sensorineural Deafness, and Peripheral Neuropathy or with Leigh Syndrome.
- Published in:
- Human Mutation, 2015, v. 36, n. 2, p. 281, doi. 10.1002/humu.22756
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- Publication type:
- Article
Mutation in The Nuclear-Encoded Mitochondrial Isoleucyl-t RNA Synthetase IARS2 in Patients with Cataracts, Growth Hormone Deficiency with Short Stature, Partial Sensorineural Deafness, and Peripheral Neuropathy or with Leigh Syndrome.
- Published in:
- Human Mutation, 2014, v. 35, n. 11, p. 1285, doi. 10.1002/humu.22629
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- Publication type:
- Article
Exome Sequencing as a Diagnostic Tool for Pediatric-Onset Ataxia.
- Published in:
- Human Mutation, 2014, v. 35, n. 1, p. 45, doi. 10.1002/humu.22451
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- Publication type:
- Article
Mutations in SYNGAP1 Cause Intellectual Disability, Autism, and a Specific Form of Epilepsy by Inducing Haploinsufficiency.
- Published in:
- Human Mutation, 2013, v. 34, n. 2, p. 385, doi. 10.1002/humu.22248
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- Publication type:
- Article
Mutations in NOTCH2 in families with Hajdu-Cheney syndrome.
- Published in:
- Human Mutation, 2011, v. 32, n. 10, p. 1114, doi. 10.1002/humu.21546
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- Publication type:
- Article
Biallelic Loss-of-Function Variants in AIMP1 Cause a Rare Neurodegenerative Disease.
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- Journal of Child Neurology, 2019, v. 34, n. 2, p. 74, doi. 10.1177/0883073818811223
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- Publication type:
- Article
Whole-exome sequencing in an individual with severe global developmental delay and intractable epilepsy identifies a novel, de novo GRIN2A mutation.
- Published in:
- Epilepsia (Series 4), 2014, v. 55, n. 7, p. e75, doi. 10.1111/epi.12663
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- Article
The utility of exome sequencing for genetic diagnosis in a familial microcephaly epilepsy syndrome.
- Published in:
- BMC Neurology, 2014, v. 14, n. 1, p. 1
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- Publication type:
- Article
The utility of exome sequencing for genetic diagnosis in a familial microcephaly epilepsy syndrome.
- Published in:
- 2014
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- Publication type:
- journal article
Integrative GWAS and co-localisation analysis suggests novel genes associated with age-related multimorbidity.
- Published in:
- Scientific Data, 2023, v. 10, n. 1, p. 1, doi. 10.1038/s41597-023-02513-4
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- Publication type:
- Article
Differential stability of 2′F-ANA•RNA and ANA•RNA hybrid duplexes: roles of structure, pseudohydrogen bonding, hydration, ion uptake and flexibility.
- Published in:
- Nucleic Acids Research, 2010, v. 38, n. 7, p. 2498, doi. 10.1093/nar/gkp1225
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- Publication type:
- Article
Expansion of the clinical phenotype of the distal 10q26.3 deletion syndrome to include ataxia and hyperemia of the hands and feet.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 6, p. 1611, doi. 10.1002/ajmg.a.38231
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- Publication type:
- Article
A novel multisystem disease associated with recessive mutations in the tyrosyl-tRNA synthetase ( YARS) gene.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 1, p. 126, doi. 10.1002/ajmg.a.37973
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- Publication type:
- Article
Syndrome disintegration: Exome sequencing reveals that Fitzsimmons syndrome is a co-occurrence of multiple events.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 7, p. 1820, doi. 10.1002/ajmg.a.37684
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- Publication type:
- Article
Congenital Visual Impairment and Progressive Microcephaly Due to Lysyl–Transfer Ribonucleic Acid (RNA) Synthetase (KARS) Mutations: The Expanding Phenotype of Aminoacyl–Transfer RNA Synthetase Mutations in Human Disease.
- Published in:
- Journal of Child Neurology, 2015, v. 30, n. 8, p. 1037, doi. 10.1177/0883073814553272
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- Publication type:
- Article
Mutations in ALDH6A1 encoding methylmalonate semialdehyde dehydrogenase are associated with dysmyelination and transient methylmalonic aciduria.
- Published in:
- Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-98
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- Publication type:
- Article
Intellectual disability associated with a homozygous missense mutation in THOC6.
- Published in:
- Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-62
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- Publication type:
- Article