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Revealing novel genomic insights and therapeutic targets for juvenile idiopathic arthritis through omics.
- Published in:
- Rheumatology, 2024, v. 63, p. SI249, doi. 10.1093/rheumatology/keae078
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- Publication type:
- Article
Identification of genetic variants associated with clinical features of sickle cell disease.
- Published in:
- Scientific Reports, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41598-024-70922-5
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- Publication type:
- Article
Genome-wide Association: From Confounded to Confident.
- Published in:
- Neuroscientist, 2011, v. 17, n. 2, p. 174, doi. 10.1177/1073858410381533
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- Publication type:
- Article
CNV Analysis Associates AKNAD1 with Type-2 Diabetes in Jordan Subpopulations.
- Published in:
- Scientific Reports, 2015, p. 13391, doi. 10.1038/srep13391
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- Publication type:
- Article
Genome-wide association study of maternal and inherited effects on left-sided cardiac malformations.
- Published in:
- Human Molecular Genetics, 2015, v. 24, n. 1, p. 265, doi. 10.1093/hmg/ddu420
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- Publication type:
- Article
GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children.
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- Human Molecular Genetics, 2013, v. 22, n. 7, p. 1457, doi. 10.1093/hmg/dds534
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- Publication type:
- Article
Comparative genetic analysis of inflammatory bowel disease and type 1 diabetes implicates multiple loci with opposite effects.
- Published in:
- Human Molecular Genetics, 2010, v. 19, n. 10, p. 2059, doi. 10.1093/hmg/ddq078
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- Publication type:
- Article
Genetic sharing and heritability of paediatric age of onset autoimmune diseases.
- Published in:
- Nature Communications, 2015, v. 6, n. 10, p. 8442, doi. 10.1038/ncomms9442
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- Publication type:
- Article
Large Copy-Number Variations Are Enriched in Cases With Moderate to Extreme Obesity.
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- Diabetes, 2010, v. 59, n. 10, p. 2690, doi. 10.2337/db10-0192
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- Publication type:
- Article
Examination of All Type 2 Diabetes GWAS Loci Reveals HHEX-IDE as a Locus Influencing Pediatric BMI.
- Published in:
- Diabetes, 2010, v. 59, n. 3, p. 751, doi. 10.2337/db09-0972
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- Publication type:
- Article
Examination of Type 2 Diabetes Loci Implicates CDKAL1 as a Birth Weight Gene.
- Published in:
- Diabetes, 2009, v. 58, n. 10, p. 2414, doi. 10.2337/db09-0506
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- Publication type:
- Article
Follow-Up Analysis of Genome-Wide Association Data Identifies Novel Loci for Type 1 Diabetes.
- Published in:
- Diabetes, 2009, v. 58, n. 1, p. 290, doi. 10.2337/db08-1022
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- Publication type:
- Article
A Novel Susceptibility Locus for Type 1 Diabetes on Chr12q13 Identified by a Genome-Wide Association Study.
- Published in:
- Diabetes, 2008, v. 57, n. 4, p. 1143, doi. 10.2337/db07-1305
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- Publication type:
- Article
Variants in CXCR4 associate with juvenile idiopathic arthritis susceptibility.
- Published in:
- BMC Medical Genetics, 2016, v. 17, p. 1, doi. 10.1186/s12881-016-0285-3
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- Publication type:
- Article
Copy number variation at 1q21.1 associated with neuroblastoma.
- Published in:
- Nature, 2009, v. 459, n. 7249, p. 987, doi. 10.1038/nature08035
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- Publication type:
- Article
Autism genome-wide copy number variation reveals ubiquitin and neuronal genes.
- Published in:
- Nature, 2009, v. 459, n. 7246, p. 569, doi. 10.1038/nature07953
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- Publication type:
- Article
Common genetic variants on 5p14.1 associate with autism spectrum disorders.
- Published in:
- Nature, 2009, v. 459, n. 7246, p. 528, doi. 10.1038/nature07999
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- Publication type:
- Article
A genome-wide association study identifies KIAA0350 as a type 1 diabetes gene.
- Published in:
- 2007
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- Publication type:
- Letter
Single Cell Transcriptome Analysis of Peripheral Blood Mononuclear Cells in Freshly Isolated versus Stored Blood Samples.
- Published in:
- Genes, 2023, v. 14, n. 1, p. 142, doi. 10.3390/genes14010142
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- Publication type:
- Article
Genome-wide copy number variation study associates metabotropic glutamate receptor gene networks with attention deficit hyperactivity disorder.
- Published in:
- Nature Genetics, 2012, v. 44, n. 1, p. 78, doi. 10.1038/ng.1013
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- Publication type:
- Article
Common variants at five new loci associated with early-onset inflammatory bowel disease.
- Published in:
- Nature Genetics, 2009, v. 41, n. 12, p. 1335, doi. 10.1038/ng.489
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- Publication type:
- Article
Common variations in BARD1 influence susceptibility to high-risk neuroblastoma.
- Published in:
- Nature Genetics, 2009, v. 41, n. 6, p. 718, doi. 10.1038/ng.374
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- Publication type:
- Article
Loci on 20q13 and 21q22 are associated with pediatric-onset inflammatory bowel disease.
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- Nature Genetics, 2008, v. 40, n. 10, p. 1211, doi. 10.1038/ng.203
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- Publication type:
- Article
Both Rare and <i>De Novo</i> Copy Number Variants Are Prevalent in Agenesis of the Corpus Callosum but Not in Cerebellar Hypoplasia or Polymicrogyria.
- Published in:
- PLoS Genetics, 2013, v. 9, n. 10, p. 1, doi. 10.1371/journal.pgen.1003823
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- Publication type:
- Article
A Genome-Wide Meta-Analysis of Six Type 1 Diabetes Cohorts Identifies Multiple Associated Loci.
- Published in:
- PLoS Genetics, 2011, v. 7, n. 9, p. 1, doi. 10.1371/journal.pgen.1002293
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- Publication type:
- Article
From Disease Association to Risk Assessment: An Optimistic View from Genome-Wide Association Studies on Type 1 Diabetes.
- Published in:
- PLoS Genetics, 2009, v. 5, n. 10, p. 1, doi. 10.1371/journal.pgen.1000678
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- Publication type:
- Article
Genome-Wide Analyses of Exonic Copy Number Variants in a Family-Based Study Point to Novel Autism Susceptibility Genes.
- Published in:
- PLoS Genetics, 2009, v. 5, n. 6, p. 1, doi. 10.1371/journal.pgen.1000536
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- Publication type:
- Article
Identification of Novel Loci Shared by Juvenile Idiopathic Arthritis Subtypes Through Integrative Genetic Analysis.
- Published in:
- Arthritis & Rheumatology, 2022, v. 74, n. 8, p. 1420, doi. 10.1002/art.42129
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- Publication type:
- Article
A genome wide association study of plasma uric acid levels in obese cases and never-overweight controls.
- Published in:
- Obesity (19307381), 2013, v. 21, n. 9, p. E490, doi. 10.1002/oby.20303
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- Publication type:
- Article
The missense variation landscape of FTO, MC4R, and TMEM18 in obese children of African Ancestry.
- Published in:
- Obesity (19307381), 2013, v. 21, n. 1, p. 159, doi. 10.1002/oby.20147
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- Publication type:
- Article
Role of BMI-Associated Loci Identified in GWAS Meta-Analyses in the Context of Common Childhood Obesity in European Americans.
- Published in:
- Obesity (19307381), 2011, v. 19, n. 12, p. 2436, doi. 10.1038/oby.2011.237
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- Publication type:
- Article
BMD-Associated Variation at the Osterix Locus Is Correlated With Childhood Obesity in Females.
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- Obesity (19307381), 2011, v. 19, n. 6, p. 1311, doi. 10.1038/oby.2010.324
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- Publication type:
- Article
The Role of Obesity-associated Loci Identified in Genome-wide Association Studies in the Determination of Pediatric BMI.
- Published in:
- Obesity (19307381), 2009, v. 17, n. 12, p. 2254, doi. 10.1038/oby.2009.159
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- Publication type:
- Article
Investigation of the Locus Near MC4R With Childhood Obesity in Americans of European and African Ancestry.
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- Obesity (19307381), 2009, v. 17, n. 7, p. 1461, doi. 10.1038/oby.2009.53
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- Publication type:
- Article
DeepCNV: a deep learning approach for authenticating copy number variations.
- Published in:
- Briefings in Bioinformatics, 2021, v. 22, n. 5, p. 1, doi. 10.1093/bib/bbaa381
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- Publication type:
- Article
Genome-Wide Detection of Copy Number Variations and Their Association With Distinct Phenotypes in the World's Sheep.
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- Frontiers in Genetics, 2021, v. 11, p. 1, doi. 10.3389/fgene.2021.670582
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- Publication type:
- Article
MONTAGE: a new tool for high-throughput detection of mosaic copy number variation.
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- BMC Genomics, 2021, v. 22, n. 1, p. 1, doi. 10.1186/s12864-021-07395-7
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- Publication type:
- Article
Rare recurrent copy number variations in metabotropic glutamate receptor interacting genes in children with neurodevelopmental disorders.
- Published in:
- Journal of Neurodevelopmental Disorders, 2023, v. 15, n. 1, p. 1, doi. 10.1186/s11689-023-09483-z
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- Publication type:
- Article
An electronic health record (EHR) phenotype algorithm to identify patients with attention deficit hyperactivity disorders (ADHD) and psychiatric comorbidities.
- Published in:
- Journal of Neurodevelopmental Disorders, 2022, v. 14, n. 1, p. 1, doi. 10.1186/s11689-022-09447-9
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- Publication type:
- Article
Copy Number Variations in Alternative Splicing Gene Networks Impact Lifespan.
- Published in:
- PLoS ONE, 2013, v. 8, n. 1, p. 1, doi. 10.1371/journal.pone.0053846
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- Publication type:
- Article
A Genome-Wide Association Study on Obesity and Obesity-Related Traits.
- Published in:
- PLoS ONE, 2011, v. 6, n. 4, p. 1, doi. 10.1371/journal.pone.0018939
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- Publication type:
- Article
Duplication of the SLIT3 Locus on 5q35.1 Predisposes to Major Depressive Disorder.
- Published in:
- PLoS ONE, 2010, v. 5, n. 12, p. 1, doi. 10.1371/journal.pone.0015463
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- Publication type:
- Article
Common Variation in ISL1 Confers Genetic Susceptibility for Human Congenital Heart Disease.
- Published in:
- PLoS ONE, 2010, v. 5, n. 5, p. 1, doi. 10.1371/journal.pone.0010855
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- Publication type:
- Article
Concept, Design and Implementation of a Cardiovascular Gene-Centric 50 K SNP Array for Large-Scale Genomic Association Studies.
- Published in:
- PLoS ONE, 2008, v. 3, n. 10, p. 1, doi. 10.1371/journal.pone.0003583
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- Publication type:
- Article
Association Analysis of the FTO Gene with Obesity in Children of Caucasian and African Ancestry Reveals a Common Tagging SNP.
- Published in:
- PLoS ONE, 2008, v. 3, n. 3, p. 1, doi. 10.1371/journal.pone.0001746
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- Publication type:
- Article
COVID-19 in pediatrics: Genetic susceptibility.
- Published in:
- Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.928466
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- Publication type:
- Article
Copy number variation on chromosome 10q26.3 for obesity identified by a genome-wide study.
- Published in:
- 2013
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- Publication type:
- journal article
Insights into non-autoimmune type 1 diabetes with 13 novel loci in low polygenic risk score patients.
- Published in:
- Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-94994-9
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- Publication type:
- Article
ParseCNV integrative copy number variation association software with quality tracking.
- Published in:
- Nucleic Acids Research, 2013, v. 41, n. 5, p. e64, doi. 10.1093/nar/gks1346
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- Publication type:
- Article
A Genome-Wide Association Study of Autism Incorporating Autism Diagnostic Interview-Revised, Autism Diagnostic Observation Schedule, and Social Responsiveness Scale.
- Published in:
- Child Development, 2013, v. 84, n. 1, p. 17, doi. 10.1111/j.1467-8624.2012.01838.x
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- Publication type:
- Article