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Polygenic risk score-based phenome-wide association for glaucoma and its impact on disease susceptibility in two large biobanks.
- Published in:
- Journal of Translational Medicine, 2024, v. 22, n. 1, p. 1, doi. 10.1186/s12967-024-05152-4
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- Publication type:
- Article
Family cascade screening for equitable identification of familial hypercholesterolemia: study protocol for a hybrid effectiveness-implementation type III randomized controlled trial.
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- Implementation Science, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13012-024-01355-x
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- Publication type:
- Article
Contrasting Views of Autism Spectrum Traits in Adults, Especially in Self-Reports vs. Informant-Reports for Women High in Autism Spectrum Traits.
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- Journal of Autism & Developmental Disorders, 2024, v. 54, n. 3, p. 1088, doi. 10.1007/s10803-022-05822-6
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- Publication type:
- Article
Kagami Ogata syndrome: a small deletion refines critical region for imprinting.
- Published in:
- NPJ Genomic Medicine, 2024, v. 9, n. 1, p. 1, doi. 10.1038/s41525-023-00389-2
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- Article
Chromatin regulator SMARCAL1 modulates cellular lipid metabolism.
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- Communications Biology, 2023, v. 6, n. 1, p. 1, doi. 10.1038/s42003-023-05665-6
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- Article
Editorial: MTTP, hepatic steatosis, and plasma lipids—still more questions than answers. Authors' reply.
- Published in:
- 2023
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- Publication type:
- Editorial
A coding variant in the microsomal triglyceride transfer protein reduces both hepatic steatosis and plasma lipids.
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- Alimentary Pharmacology & Therapeutics, 2023, v. 58, n. 2, p. 238, doi. 10.1111/apt.17566
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- Publication type:
- Article
Gene burden analysis identifies genes associated with increased risk and severity of adult-onset hearing loss in a diverse hospital-based cohort.
- Published in:
- PLoS Genetics, 2023, v. 18, n. 1, p. 1, doi. 10.1371/journal.pgen.1010584
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- Article
ApoJ/Clusterin concentrations are determinants of cerebrospinal fluid cholesterol efflux capacity and reduced levels are associated with Alzheimer's disease.
- Published in:
- Alzheimer's Research & Therapy, 2022, v. 14, n. 1, p. 1, doi. 10.1186/s13195-022-01119-z
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- Publication type:
- Article
The Penn Medicine BioBank: Towards a Genomics-Enabled Learning Healthcare System to Accelerate Precision Medicine in a Diverse Population.
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- Journal of Personalized Medicine, 2022, v. 12, n. 12, p. 1974, doi. 10.3390/jpm12121974
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- Article
Early Midlife Cardiovascular Health Influences Future HDL Metrics in Women: The SWAN HDL Study.
- Published in:
- 2022
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- Publication type:
- journal article
Clinical Significance of Serum Albumin and Implications of FcRn Inhibitor Treatment in IgG-Mediated Autoimmune Disorders.
- Published in:
- Frontiers in Immunology, 2022, v. 13, p. 1, doi. 10.3389/fimmu.2022.892534
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- Publication type:
- Article
The Relationship Between Lipoproteins and Insulin Sensitivity in Youth With Obesity and Abnormal Glucose Tolerance.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2022, v. 107, n. 6, p. 1541, doi. 10.1210/clinem/dgac113
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- Publication type:
- Article
Associations of Abdominal and Cardiovascular Adipose Tissue Depots With HDL Metrics in Midlife Women: the SWAN Study.
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- Journal of Clinical Endocrinology & Metabolism, 2022, v. 107, n. 6, p. e2245, doi. 10.1210/clinem/dgac148
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- Publication type:
- Article
The relationship between autism spectrum and sleep–wake traits.
- Published in:
- Autism Research: Official Journal of the International Society for Autism Research, 2022, v. 15, n. 4, p. 641, doi. 10.1002/aur.2660
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- Publication type:
- Article
A Genome-First Approach to Rare Variants in Dominant Postlingual Hearing Loss Genes in a Large Adult Population.
- Published in:
- Otolaryngology-Head & Neck Surgery, 2022, v. 166, n. 4, p. 746, doi. 10.1177/01945998211029544
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- Publication type:
- Article
genome-first approach to rare variants in hypertrophic cardiomyopathy genes MYBPC3 and MYH7 in a medical biobank.
- Published in:
- Human Molecular Genetics, 2022, v. 31, n. 5, p. 827, doi. 10.1093/hmg/ddab249
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- Publication type:
- Article
Association of Telomere Length With Risk of Disease and Mortality.
- Published in:
- 2022
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- Publication type:
- journal article
Early prediction of decompensation (EPOD) score: Non‐invasive determination of cirrhosis decompensation risk.
- Published in:
- Liver International, 2022, v. 42, n. 3, p. 640, doi. 10.1111/liv.15161
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- Publication type:
- Article
Multi-Trait Genome-Wide Association Study of Atherosclerosis Detects Novel Pleiotropic Loci.
- Published in:
- Frontiers in Genetics, 2022, v. 12, p. 1, doi. 10.3389/fgene.2021.787545
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- Publication type:
- Article
LLF580, an FGF21 Analog, Reduces Triglycerides and Hepatic Fat in Obese Adults With Modest Hypertriglyceridemia.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2022, v. 107, n. 1, p. e57, doi. 10.1210/clinem/dgab624
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- Publication type:
- Article
Associations of Endogenous Hormones With HDL Novel Metrics Across the Menopause Transition: The SWAN HDL Study.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2022, v. 107, n. 1, p. e303, doi. 10.1210/clinem/dgab595
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- Publication type:
- Article
Dynamic Changes in Central and Peripheral Neuro-Injury vs. Neuroprotective Serum Markers in COVID-19 Are Modulated by Different Types of Anti-Viral Treatments but Do Not Affect the Incidence of Late and Early Strokes.
- Published in:
- Biomedicines, 2021, v. 9, n. 12, p. 1791, doi. 10.3390/biomedicines9121791
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- Publication type:
- Article
Assessing HDL Metabolism in Subjects with Elevated Levels of HDL Cholesterol and Coronary Artery Disease.
- Published in:
- Molecules, 2021, v. 26, n. 22, p. 6862, doi. 10.3390/molecules26226862
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- Publication type:
- Article
MitoScape: A big-data, machine-learning platform for obtaining mitochondrial DNA from next-generation sequencing data.
- Published in:
- PLoS Computational Biology, 2021, v. 17, n. 11, p. 1, doi. 10.1371/journal.pcbi.1009594
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- Publication type:
- Article
Author Correction: Longitudinal urinary biomarkers of immunological activation in covid-19 patients without clinically apparent kidney disease versus acute and chronic failure.
- Published in:
- 2021
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- Publication type:
- Correction Notice
Longitudinal urinary biomarkers of immunological activation in covid-19 patients without clinically apparent kidney disease versus acute and chronic failure.
- Published in:
- Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-99102-5
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- Publication type:
- Article
Endothelial lipase mediates efficient lipolysis of triglyceride-rich lipoproteins.
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- PLoS Genetics, 2021, v. 17, n. 9, p. 1, doi. 10.1371/journal.pgen.1009802
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- Publication type:
- Article
Heritability of quantitative autism spectrum traits in adults: A family‐based study.
- Published in:
- Autism Research: Official Journal of the International Society for Autism Research, 2021, v. 14, n. 8, p. 1543, doi. 10.1002/aur.2571
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- Publication type:
- Article
Lipid droplet screen in human hepatocytes identifies TRRAP as a regulator of cellular triglyceride metabolism.
- Published in:
- CTS: Clinical & Translational Science, 2021, v. 14, n. 4, p. 1369, doi. 10.1111/cts.12988
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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.
- Published in:
- 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
Association of the transthyretin variant V122I with polyneuropathy among individuals of African ancestry.
- Published in:
- Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-91113-6
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- Publication type:
- Article
Genome-first approach to rare EYA4 variants and cardio-auditory phenotypes in adults.
- Published in:
- Human Genetics, 2021, v. 140, n. 6, p. 957, doi. 10.1007/s00439-021-02263-6
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- Publication type:
- Article
Quantification of abdominal fat from computed tomography using deep learning and its association with electronic health records in an academic biobank.
- Published in:
- 2021
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- Publication type:
- journal article
A Mendelian randomization study of the role of lipoprotein subfractions in coronary artery disease.
- Published in:
- eLife, 2021, p. 1, doi. 10.7554/eLife.58361
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- Publication type:
- Article
Disrupting upstream translation in mRNAs is associated with human disease.
- Published in:
- Nature Communications, 2021, v. 12, n. 1, p. 1, doi. 10.1038/s41467-021-21812-1
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- Article
Genetics of Postlingual Sensorineural Hearing Loss.
- Published in:
- 2021
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- Publication type:
- journal article
Genetics of Smoking and Risk of Atherosclerotic Cardiovascular Diseases: A Mendelian Randomization Study.
- Published in:
- JAMA Network Open, 2021, v. 4, n. 1, p. 1, doi. 10.1001/jamanetworkopen.2020.34461
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- Publication type:
- Article
PCSK9 loss of function is protective against extra-coronary atherosclerotic cardiovascular disease in a large multi-ethnic cohort.
- Published in:
- PLoS ONE, 2020, v. 15, n. 11, p. 1, doi. 10.1371/journal.pone.0239752
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- Publication type:
- Article
Genetics of height and risk of atrial fibrillation: A Mendelian randomization study.
- Published in:
- 2020
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- Publication type:
- journal article
Anti-Inflammatory HDL Function, Incident Cardiovascular Events, and Mortality: A Secondary Analysis of the JUPITER Randomized Clinical Trial.
- Published in:
- 2020
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- Publication type:
- journal article
Familial Chylomicronemia Syndrome With a Novel Homozygous LPL Mutation Identified in Three Siblings in Their 50s.
- Published in:
- 2020
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- Publication type:
- journal article
Experimental Therapeutics for Challenging Clinical Care of a Patient with an Extremely Rare Homozygous APOC2 Mutation.
- Published in:
- Case Reports in Endocrinology, 2020, p. 1, doi. 10.1155/2020/1865489
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- Publication type:
- Article
The role of resting myocardial blood flow and myocardial blood flow reserve as a predictor of major adverse cardiovascular outcomes.
- Published in:
- PLoS ONE, 2020, v. 15, n. 2, p. 1, doi. 10.1371/journal.pone.0228931
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- Publication type:
- Article
Manganese homeostasis: from rare single-gene disorders to complex phenotypes and diseases.
- Published in:
- 2019
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- Publication type:
- journal article
Efficacy and Safety of Alirocumab 300 mg Every 4 Weeks in Individuals With Type 2 Diabetes on Maximally Tolerated Statin.
- Published in:
- 2019
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- Publication type:
- journal article
A regression framework to uncover pleiotropy in large-scale electronic health record data.
- Published in:
- 2019
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- Publication type:
- journal article
Differential network enrichment analysis reveals novel lipid pathways in chronic kidney disease.
- Published in:
- Bioinformatics, 2019, v. 35, n. 18, p. 3441, doi. 10.1093/bioinformatics/btz114
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- Publication type:
- Article
Author Correction: Genome-wide association study of alcohol consumption and use disorder in 274,424 individuals from multiple populations.
- Published in:
- 2019
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- Publication type:
- Correction Notice
Author Correction: Genome-wide association study of alcohol consumption and use disorder in 274,424 individuals from multiple populations.
- Published in:
- 2019
- By:
- Publication type:
- Correction Notice