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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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- Article
Voriconazole metabolism is associated with the number of skin cancers per patient.
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- Archives of Dermatological Research, 2024, v. 316, n. 6, p. 1, doi. 10.1007/s00403-024-03135-5
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- Publication type:
- Article
Genomic information of children with malignant brain tumors for the prediction of length of hospitalization.
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- Cancer Communications, 2023, v. 43, n. 11, p. 1271, doi. 10.1002/cac2.12475
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- Article
Desiderata for computable representations of electronic health records-driven phenotype algorithms.
- Published in:
- 2015
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- Publication type:
- journal 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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- Article
Combined application of genetic and polygenic risk scores for type 1 diabetes risk prediction.
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- Diabetes, Obesity & Metabolism, 2021, v. 23, n. 8, p. 2001, doi. 10.1111/dom.14419
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- Article
Improved genetic risk scoring algorithm for type 1 diabetes prediction.
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- Pediatric Diabetes, 2022, v. 23, n. 3, p. 320, doi. 10.1111/pedi.13310
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- Article
Genetic analysis for type 1 diabetes genes in juvenile dermatomyositis unveils genetic disease overlap.
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- Rheumatology, 2022, v. 61, n. 8, p. 3497, doi. 10.1093/rheumatology/keac100
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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
Common variants in MMP20 at 11q22.2 predispose to 11q deletion and neuroblastoma risk.
- Published in:
- Nature Communications, 2017, v. 8, n. 1, p. 1, doi. 10.1038/s41467-017-00408-8
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- Publication type:
- Article
Genome-wide association study for acute otitis media in children identifies FNDC1 as disease contributing gene.
- Published in:
- Nature Communications, 2016, v. 7, n. 9, p. 12792, doi. 10.1038/ncomms12792
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- 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
The impact of the metabotropic glutamate receptor and other gene family interaction networks on autism.
- Published in:
- Nature Communications, 2014, v. 5, n. 6, p. 4074, doi. 10.1038/ncomms5074
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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
Identification of Novel Loci Shared by Juvenile Idiopathic Arthritis Subtypes Through Integrative Genetic Analysis.
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- Arthritis & Rheumatology, 2022, v. 74, n. 8, p. 1420, doi. 10.1002/art.42129
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- Publication type:
- Article
The missense variation landscape of FTO, MC4R, and TMEM18 in obese children of African Ancestry.
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- Obesity (19307381), 2013, v. 21, n. 1, p. 159, doi. 10.1002/oby.20147
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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
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
Trans‐ethnic polygenic risk scores for body mass index: An international hundred K+ cohorts consortium study.
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- Clinical & Translational Medicine, 2023, v. 13, n. 6, p. 1, doi. 10.1002/ctm2.1291
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- Publication type:
- Article
HIF-1α Pulmonary Phenotype Wide Association Study Unveils a Link to Inflammatory Airway Conditions.
- Published in:
- Frontiers in Genetics, 2021, v. 12, p. 1, doi. 10.3389/fgene.2021.756645
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- Publication type:
- Article
Metabolomic profiling for dyslipidemia in pediatric patients with sickle cell disease, on behalf of the IHCC consortium.
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- Metabolomics, 2022, v. 18, n. 12, p. 1, doi. 10.1007/s11306-022-01954-z
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- Publication type:
- Article
A Polygenic and Phenotypic Risk Prediction for Polycystic Ovary Syndrome Evaluated by Phenome-Wide Association Studies.
- Published in:
- 2020
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- Publication type:
- journal article
Rare recurrent copy number variations in metabotropic glutamate receptor interacting genes in children with neurodevelopmental disorders.
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- 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
Genetic Variation in Genes Encoding Airway Epithelial Potassium Channels Is Associated with Chronic Rhinosinusitis in a Pediatric Population.
- Published in:
- PLoS ONE, 2014, v. 9, n. 3, p. 1, doi. 10.1371/journal.pone.0089329
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- Publication type:
- Article
Gene Network Analysis in a Pediatric Cohort Identifies Novel Lung Function Genes.
- Published in:
- PLoS ONE, 2013, v. 8, n. 9, p. 1, doi. 10.1371/journal.pone.0072899
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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
The Philadelphia Neurodevelopmental Cohort: constructing a deep phenotyping collaborative.
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- Journal of Child Psychology, 2015, v. 56, n. 12, p. 1356, doi. 10.1111/jcpp.12416
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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
Drug‐resistant epilepsy classified by a phenotyping algorithm associates with NTRK2.
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- Acta Neurologica Scandinavica, 2019, v. 140, n. 3, p. 169, doi. 10.1111/ane.13115
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- Publication type:
- Article
Body mass index (BMI) trajectories in infancy differ by population ancestry and may presage disparities in early childhood obesity.
- Published in:
- 2015
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- Publication type:
- journal article
Identification of Four Novel Loci in Asthma in European American and African American Populations.
- Published in:
- 2017
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- Publication type:
- journal article
Genomic variants exclusively identified in children with birth defects and concurrent malignant tumors predispose to cancer development.
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- Molecular Cancer, 2023, v. 22, n. 1, p. 1, doi. 10.1186/s12943-023-01828-5
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- Publication type:
- Article
Quantifying the phenome‐wide disease burden of obesity using electronic health records and genomics.
- Published in:
- Obesity (19307381), 2022, v. 30, n. 12, p. 2477, doi. 10.1002/oby.23561
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- Publication type:
- Article
Association of Genetic Risk of Obesity with Postoperative Complications Using Mendelian Randomization.
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- World Journal of Surgery, 2020, v. 44, n. 1, p. 84, doi. 10.1007/s00268-019-05202-9
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- Publication type:
- Article
The role of height-associated loci identified in genome wide association studies in the determination of pediatric stature.
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- BMC Medical Genetics, 2010, v. 11, p. 96, doi. 10.1186/1471-2350-11-96
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- Article
Evaluation of the portability of computable phenotypes with natural language processing in the eMERGE network.
- Published in:
- Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-27481-y
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- Publication type:
- Article
Molecular diagnosis and novel genes and phenotypes in a pediatric thoracic insufficiency cohort.
- Published in:
- Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-27641-0
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- Publication type:
- Article
Rare copy number variants in over 100,000 European ancestry subjects reveal multiple disease associations.
- Published in:
- Nature Communications, 2020, v. 11, n. 1, p. 1, doi. 10.1038/s41467-019-13624-1
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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
Performance of an electronic health record-based phenotype algorithm to identify community associated methicillin-resistant Staphylococcus aureus cases and controls for genetic association studies.
- Published in:
- BMC Infectious Diseases, 2016, v. 16, p. 1, doi. 10.1186/s12879-016-2020-2
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- Publication type:
- Article
A Mendelian Randomization Approach Using 3-HMG-Coenzyme-A Reductase Gene Variation to Evaluate the Association of Statin-Induced Low-Density Lipoprotein Cholesterol Lowering With Noncardiovascular Disease Phenotypes.
- Published in:
- JAMA Network Open, 2021, v. 4, n. 6, p. e2112820, doi. 10.1001/jamanetworkopen.2021.12820
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- Publication type:
- Article
A genome-wide association meta-analysis of diarrhoeal disease in young children identifies FUT2 locus and provides plausible biological pathways.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 18, p. 4127, doi. 10.1093/hmg/ddw264
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- Publication type:
- Article
A novel heterotaxy gene: Expansion of the phenotype of TTC21B-spectrum disease.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 4, p. 1266, doi. 10.1002/ajmg.a.62093
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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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- Article
Under-specification as the source of ambiguity and vagueness in narrative phenotype algorithm definitions.
- Published in:
- 2022
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- Publication type:
- journal 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
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.
- Published in:
- Translational Psychiatry, 2020, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41398-020-01064-1
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- Publication type:
- Article
Electronic Health Record Based Algorithm to Identify Patients with Autism Spectrum Disorder.
- Published in:
- PLoS ONE, 2016, v. 11, n. 7, p. 1, doi. 10.1371/journal.pone.0159621
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- Publication type:
- Article