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PheW<sup>2</sup>P2V: a phenome-wide prediction framework with weighted patient representations using electronic health records.
- Published in:
- JAMIA Open, 2024, v. 7, n. 3, p. 1, doi. 10.1093/jamiaopen/ooae084
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- Publication type:
- Article
Genome-Wide Study Updates in the International Genetics and Translational Research in Transplantation Network (iGeneTRAiN).
- Published in:
- Frontiers in Genetics, 2019, v. 10, p. 1, doi. 10.3389/fgene.2019.01084
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- Publication type:
- Article
IgA vasculitis with nephritis: update of pathogenesis with clinical implications.
- Published in:
- Pediatric Nephrology, 2022, v. 37, n. 4, p. 719, doi. 10.1007/s00467-021-04950-y
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- Publication type:
- Article
The emerging role of genomics in the diagnosis and workup of congenital urinary tract defects: a novel deletion syndrome on chromosome 3q13.31-22.1.
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- Pediatric Nephrology, 2014, v. 29, n. 2, p. 257, doi. 10.1007/s00467-013-2625-2
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- Publication type:
- Article
Genetic studies of IgA nephropathy: past, present, and future.
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- Pediatric Nephrology, 2010, v. 25, n. 11, p. 2257, doi. 10.1007/s00467-010-1500-7
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- Publication type:
- Article
BIGKnock: fine-mapping gene-based associations via knockoff analysis of biobank-scale data.
- Published in:
- Genome Biology, 2023, v. 24, n. 1, p. 1, doi. 10.1186/s13059-023-02864-6
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- Publication type:
- Article
Research on COVID-19 through patient-reported data: a survey for observational studies in the COVID-19 pandemic.
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- Journal of Clinical & Translational Science, 2021, v. 5, n. 1, p. 1, doi. 10.1017/cts.2020.509
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- Publication type:
- Article
Participant-guided development of bilingual genomic educational infographics for Electronic Medical Records and Genomics Phase IV study.
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- Journal of the American Medical Informatics Association, 2024, v. 31, n. 2, p. 306, doi. 10.1093/jamia/ocad207
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- Publication type:
- Article
The molecular pathogenesis of HIV-1 associated nephropathy: recent advances.
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- Journal of Molecular Medicine, 2011, v. 89, n. 5, p. 429, doi. 10.1007/s00109-010-0719-x
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- Article
Geographic Differences in Genetic Susceptibility to IgA Nephropathy: GWAS Replication Study and Geospatial Risk Analysis.
- Published in:
- PLoS Genetics, 2012, v. 8, n. 6, p. 1, doi. 10.1371/journal.pgen.1002765
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- Publication type:
- Article
The eMERGE genotype set of 83,717 subjects imputed to ~40 million variants genome wide and association with the herpes zoster medical record phenotype.
- Published in:
- Genetic Epidemiology, 2019, v. 43, n. 1, p. 63, doi. 10.1002/gepi.22167
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- Publication type:
- Article
Assisting the analysis of insertions and deletions using regional allele frequencies.
- Published in:
- Functional & Integrative Genomics, 2024, v. 24, n. 3, p. 1, doi. 10.1007/s10142-024-01358-3
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- Publication type:
- Article
A metadata framework for computational phenotypes.
- Published in:
- JAMIA Open, 2023, v. 6, n. 2, p. 1, doi. 10.1093/jamiaopen/ooad032
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- Publication type:
- Article
Association of rare predicted loss-of-function variants of influenza-related type I IFN genes with critical COVID-19 pneumonia. Reply.
- Published in:
- 2021
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- Publication type:
- letter
Membranous Nephropathy: From Research Bench to Personalized Care.
- Published in:
- Journal of Clinical Medicine, 2021, v. 10, n. 6, p. 1205, doi. 10.3390/jcm10061205
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- Publication type:
- Article
A Panel of Serum Biomarkers Differentiates IgA Nephropathy from Other Renal Diseases.
- Published in:
- PLoS ONE, 2014, v. 9, n. 5, p. 1, doi. 10.1371/journal.pone.0098081
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- Article
Lack of Serologic Evidence to Link IgA Nephropathy with Celiac Disease or Immune Reactivity to Gluten.
- Published in:
- PLoS ONE, 2014, v. 9, n. 4, p. 1, doi. 10.1371/journal.pone.0094677
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- Publication type:
- Article
Identification of a Potential Susceptibility Locus for Macular Telangiectasia Type 2.
- Published in:
- PLoS ONE, 2012, v. 7, n. 8, p. 1, doi. 10.1371/journal.pone.0024268
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- Publication type:
- Article
Predicting Progression of IgA Nephropathy: New Clinical Progression Risk Score.
- Published in:
- PLoS ONE, 2012, v. 7, n. 6, p. 1, doi. 10.1371/journal.pone.0038904
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- Publication type:
- Article
Genome-wide association study identifies susceptibility loci for IgA nephropathy.
- Published in:
- Nature Genetics, 2011, v. 43, n. 4, p. 321, doi. 10.1038/ng.787
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- Publication type:
- Article
Identification of a shared genetic risk locus for Kawasaki disease and immunoglobulin A vasculitis by a cross-phenotype meta-analysis.
- Published in:
- Rheumatology, 2022, v. 61, n. 3, p. 1204, doi. 10.1093/rheumatology/keab443
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- Publication type:
- Article
Polygenic risk alters the penetrance of monogenic kidney disease.
- Published in:
- Nature Communications, 2023, v. 14, n. 1, p. 1, doi. 10.1038/s41467-023-43878-9
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- Publication type:
- Article
Dimension-agnostic and granularity-based spatially variable gene identification using BSP.
- Published in:
- Nature Communications, 2023, v. 14, n. 1, p. 1, doi. 10.1038/s41467-023-43256-5
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- Publication type:
- Article
Projecting genetic associations through gene expression patterns highlights disease etiology and drug mechanisms.
- Published in:
- Nature Communications, 2023, v. 14, n. 1, p. 1, doi. 10.1038/s41467-023-41057-4
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- Publication type:
- Article
Incorporating genetics services into adult kidney disease care.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2022, v. 190, n. 3, p. 289, doi. 10.1002/ajmg.c.32004
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- Publication type:
- Article
COL4A3 mutations cause focal segmental glomerulosclerosis.
- Published in:
- Journal of Molecular Cell Biology, 2014, v. 6, n. 6, p. 498, doi. 10.1093/jmcb/mju040
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- Publication type:
- Article
New developments in the genetics, pathogenesis, and therapy of IgA nephropathy.
- Published in:
- 2015
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- Publication type:
- journal article
Novel mutations in the inverted formin 2 gene of Chinese families contribute to focal segmental glomerulosclerosis.
- Published in:
- Kidney International, 2015, v. 88, n. 3, p. 593, doi. 10.1038/ki.2015.106
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- Publication type:
- Article
The level of galactose-deficient IgA1 in the sera of patients with IgA nephropathy is associated with disease progression.
- Published in:
- Kidney International, 2012, v. 82, n. 7, p. 790, doi. 10.1038/ki.2012.197
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- Publication type:
- Article
Aberrant glycosylation of IgA1 is inherited in both pediatric IgA nephropathy and Henoch-Schönlein purpura nephritis.
- Published in:
- 2011
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- Publication type:
- journal article
Aberrant glycosylation of IgA1 is inherited in both pediatric IgA nephropathy and Henoch-Schönlein purpura nephritis.
- Published in:
- Kidney International, 2011, v. 80, n. 1, p. 79, doi. 10.1038/ki.2011.16
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- Publication type:
- Article
The genetics of albuminuria: from haplotype association mapping in mice to genetic causation in humans.
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- Kidney International, 2010, v. 77, n. 3, p. 173, doi. 10.1038/ki.2009.457
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- Publication type:
- Article
Renal function and genetic variation in dopamine D<sub>1</sub> receptor: is the case strong enough?
- Published in:
- Kidney International, 2009, v. 76, n. 10, p. 1019, doi. 10.1038/ki.2009.328
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- Publication type:
- Article
Quantitative genetics of renal function: tackling complexities of the eGFR phenotype in gene mapping studies.
- Published in:
- Kidney International, 2008, v. 74, n. 9, p. 1109, doi. 10.1038/ki.2008.479
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- Publication type:
- Article
Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens.
- Published in:
- Nature Genetics, 2014, v. 46, n. 11, p. 1187, doi. 10.1038/ng.3118
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- Publication type:
- Article
Generalizability of Polygenic Risk Scores for Breast Cancer Among Women With European, African, and Latinx Ancestry.
- Published in:
- JAMA Network Open, 2021, v. 4, n. 8, p. e2119084, doi. 10.1001/jamanetworkopen.2021.19084
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- Article
Cases in Precision Medicine: APOL1 and Genetic Testing in the Evaluation of Chronic Kidney Disease and Potential Transplant.
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- 2019
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- Publication type:
- journal article
Cases in Precision Medicine: When Patients Present With Direct-to-Consumer Genetic Test Results.
- Published in:
- 2019
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- Publication type:
- journal article
Precision Medicine in Internal Medicine.
- Published in:
- 2019
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- Publication type:
- journal article
Whole-Exome Sequencing in Adults With Chronic Kidney Disease.
- Published in:
- 2018
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- Publication type:
- letter
LIMS1 risk genotype and T cell–mediated rejection in kidney transplant recipients.
- Published in:
- Nephrology Dialysis Transplantation, 2021, v. 36, n. 11, p. 2120, doi. 10.1093/ndt/gfab168
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- Publication type:
- Article
IgA nephropathy—the case for a genetic basis becomes stronger.
- Published in:
- Nephrology Dialysis Transplantation, 2010, v. 25, n. 2, p. 336, doi. 10.1093/ndt/gfp593
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- Publication type:
- Article
Genome-wide discovery for biomarkers using quantile regression at biobank scale.
- Published in:
- Nature Communications, 2024, v. 15, n. 1, p. 1, doi. 10.1038/s41467-024-50726-x
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- Publication type:
- Article
Novel EDGE encoding method enhances ability to identify genetic interactions.
- Published in:
- PLoS Genetics, 2021, v. 17, n. 6, p. 1, doi. 10.1371/journal.pgen.1009534
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- Publication type:
- Article
Genomic imbalances in pediatric patients with chronic kidney disease.
- Published in:
- Journal of Clinical Investigation, 2015, v. 125, n. 5, p. 2171, doi. 10.1172/JCI80877
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- Publication type:
- Article
The genetics and immunobiology of IgA nephropathy.
- Published in:
- Journal of Clinical Investigation, 2014, v. 124, n. 6, p. 2325, doi. 10.1172/JCI74475
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- Publication type:
- Article
Susceptibility loci for murine HIV-associated nephropathy encode trans-regulators of podocyte gene expression.
- Published in:
- 2009
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- Publication type:
- journal article
Quantitative disease risk scores from EHR with applications to clinical risk stratification and genetic studies.
- Published in:
- NPJ Digital Medicine, 2021, v. 4, n. 1, p. 1, doi. 10.1038/s41746-021-00488-3
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- Publication type:
- Article
Leukemia Inhibitory Factor Signaling Enhances Production of Galactose-Deficient IgA1 in IgA Nephropathy.
- Published in:
- Kidney Diseases, 2020, v. 6, n. 3, p. 168, doi. 10.1159/000505748
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- Publication type:
- Article
Harmonizing Outcomes for Genomic Medicine: Comparison of eMERGE Outcomes to ClinGen Outcome/Intervention Pairs.
- Published in:
- Healthcare (2227-9032), 2018, v. 6, n. 3, p. 83, doi. 10.3390/healthcare6030083
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- Publication type:
- Article