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Copy number variation in CEP57L1 predisposes to congenital absence of bilateral ACL and PCL ligaments.
- Published in:
- Human Genomics, 2015, v. 9, p. 1, doi. 10.1186/s40246-015-0053-z
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- Publication type:
- Article
Association Between a Common, Benign Genotype and Unnecessary Bone Marrow Biopsies Among African American Patients.
- Published in:
- 2021
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- Publication type:
- journal article
Genome-Wide Detection of Copy Number Variations and Their Association With Distinct Phenotypes in the World's Sheep.
- Published in:
- Frontiers in Genetics, 2021, v. 11, p. 1, doi. 10.3389/fgene.2021.670582
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- Publication type:
- Article
Biliary-Atresia-Associated Mannosidase-1-Alpha-2 Gene Regulates Biliary and Ciliary Morphogenesis and Laterality.
- Published in:
- Frontiers in Physiology, 2020, v. 11, p. N.PAG, doi. 10.3389/fphys.2020.538701
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- Publication type:
- Article
Association of the BANK1 R61H variant with systemic lupus erythematosus in Americans of European and African ancestry.
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- Application of Clinical Genetics, 2009, v. 2, p. 1
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- Publication type:
- Article
Machine Learning Reduced Gene/Non-Coding RNA Features That Classify Schizophrenia Patients Accurately and Highlight Insightful Gene Clusters.
- Published in:
- International Journal of Molecular Sciences, 2021, v. 22, n. 7, p. 3364, doi. 10.3390/ijms22073364
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- Article
Genetic architecture of type 1 diabetes with low genetic risk score informed by 41 unreported loci.
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- Communications Biology, 2021, v. 4, n. 1, p. 1, doi. 10.1038/s42003-021-02368-8
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- Publication type:
- Article
Integrative analysis of genome-wide association studies identifies novel loci associated with neuropsychiatric disorders.
- Published in:
- Translational Psychiatry, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41398-020-01195-5
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- Publication type:
- Article
Mitochondrial DNA haplogroups and risk of attention deficit and hyperactivity disorder in European Americans.
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- Translational Psychiatry, 2020, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41398-020-01064-1
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- Publication type:
- Article
Expansion of Schizophrenia Gene Network Knowledge Using Machine Learning Selected Signals From Dorsolateral Prefrontal Cortex and Amygdala RNA-seq Data.
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- Frontiers in Psychiatry, 2022, v. 13, p. 1, doi. 10.3389/fpsyt.2022.797329
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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
Modeling genetic inheritance of copy number variations.
- Published in:
- Nucleic Acids Research, 2008, v. 36, n. 21, p. e138, doi. 10.1093/nar/gkn641
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- Publication type:
- Article
Adjustment of genomic waves in signal intensities from whole-genome SNP genotyping platforms.
- Published in:
- Nucleic Acids Research, 2008, v. 36, n. 19, p. e126, doi. 10.1093/nar/gkn556
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- Publication type:
- Article
TOPORS as a novel causal gene for Joubert syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 8, p. 2156, doi. 10.1002/ajmg.a.63303
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- Publication type:
- Article
Ciliopathies: Coloring outside of the lines.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 3, p. 687, doi. 10.1002/ajmg.a.62013
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- Publication type:
- Article
PECONPI: A novel software for uncovering pathogenic copy number variations in non-syndromic sensorineural hearing loss and other genetically heterogeneous disorders.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 9, p. 2134, doi. 10.1002/ajmg.a.36038
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- Publication type:
- Article
Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases.
- Published in:
- Nature Medicine, 2015, v. 21, n. 9, p. 1018, doi. 10.1038/nm.3933
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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 5q22 associate with pediatric eosinophilic esophagitis.
- Published in:
- Nature Genetics, 2010, v. 42, n. 4, p. 289, doi. 10.1038/ng.547
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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.
- Published in:
- Nature Genetics, 2008, v. 40, n. 10, p. 1211, doi. 10.1038/ng.203
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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
Burden of rare coding variants reveals genetic heterogeneity between obese and non-obese asthma patients in the African American population.
- Published in:
- 2022
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- Publication type:
- journal 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
MONTAGE: a new tool for high-throughput detection of mosaic copy number variation.
- Published in:
- BMC Genomics, 2021, v. 22, n. 1, p. 1, doi. 10.1186/s12864-021-07395-7
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- Publication type:
- Article
Genome-wide association study reveals two loci for serum magnesium concentrations in European-American children.
- Published in:
- Scientific Reports, 2015, p. 18792, doi. 10.1038/srep18792
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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
Combined application of genetic and polygenic risk scores for type 1 diabetes risk prediction.
- Published in:
- Diabetes, Obesity & Metabolism, 2021, v. 23, n. 8, p. 2001, doi. 10.1111/dom.14419
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- Publication type:
- Article
Clinical associations with a polygenic predisposition to benign lower white blood cell counts.
- Published in:
- Nature Communications, 2024, v. 15, n. 1, p. 1, doi. 10.1038/s41467-024-47804-5
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- Publication type:
- Article
The Role of ARF6 in Biliary Atresia.
- Published in:
- PLoS ONE, 2015, v. 10, n. 9, p. 1, doi. 10.1371/journal.pone.0138381
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- Publication type:
- Article
Genome-Wide Association Study of Maternal and Inherited Loci for Conotruncal Heart Defects.
- Published in:
- PLoS ONE, 2014, v. 9, n. 5, p. 1, doi. 10.1371/journal.pone.0096057
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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
Genomic variants exclusively identified in children with birth defects and concurrent malignant tumors predispose to cancer development.
- Published in:
- Molecular Cancer, 2023, v. 22, n. 1, p. 1, doi. 10.1186/s12943-023-01828-5
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- Publication type:
- Article
Identification of risk variants related to malignant tumors in children with birth defects by whole genome sequencing.
- Published in:
- Biomarker Research, 2022, v. 10, n. 1, p. 1, doi. 10.1186/s40364-022-00431-y
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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
Methylome-wide analysis in systemic microbial-induced experimental periodontal disease in mice with different susceptibility.
- Published in:
- Frontiers in Cellular & Infection Microbiology, 2024, p. 1, doi. 10.3389/fcimb.2024.1369226
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- Publication type:
- Article
Metabolomic profiling for dyslipidemia in pediatric patients with sickle cell disease, on behalf of the IHCC consortium.
- Published in:
- Metabolomics, 2022, v. 18, n. 12, p. 1, doi. 10.1007/s11306-022-01954-z
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- Publication type:
- Article
Integrative genomics identifies LMO1 as a neuroblastoma oncogene.
- Published in:
- Nature, 2011, v. 469, n. 7329, p. 216, doi. 10.1038/nature09609
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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
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
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
A genome-wide association study identifies KIAA0350 as a type 1 diabetes gene.
- Published in:
- 2007
- By:
- Publication type:
- Letter
Association of Rare Recurrent Copy Number Variants With Congenital Heart Defects Based on Next-Generation Sequencing Data From Family Trios.
- Published in:
- Frontiers in Genetics, 2019, p. 1, doi. 10.3389/fgene.2019.00819
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- Publication type:
- Article
Identification of rare DNA sequence variants in high-risk autism families and their prevalence in a large case/control population.
- Published in:
- Molecular Autism, 2014, v. 5, n. 1, p. 3, doi. 10.1186/2040-2392-5-5
- By:
- Publication type:
- Article