Search Results - "O'DONNELL, H"
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Using high-resolution variant frequencies to empower clinical genome interpretation
Published in Genetics in medicine (01-10-2017)“…Purpose Whole-exome and whole-genome sequencing have transformed the discovery of genetic variants that cause human Mendelian disease, but discriminating…”
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2
Adjuvant atezolizumab versus observation in muscle-invasive urothelial carcinoma (IMvigor010): a multicentre, open-label, randomised, phase 3 trial
Published in The lancet oncology (01-04-2021)“…Despite standard curative-intent treatment with neoadjuvant cisplatin-based chemotherapy, followed by radical surgery in eligible patients, muscle-invasive…”
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3
One Psychology Profession, Many Standards: A Narrative Review of Training, Licensing, and Practice Standards and Their Implications for International Mobility
Published in Inquiry (Chicago) (01-01-2024)“…This narrative review paper contrasts the professional prospects of psychologists in Japan and the U.S., discussing how divergent training, licensing, and…”
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Safety and activity of pembrolizumab in patients with locally advanced or metastatic urothelial cancer (KEYNOTE-012): a non-randomised, open-label, phase 1b study
Published in The lancet oncology (01-02-2017)“…Summary Background PD-1 and its ligands are expressed in urothelial cancer, and findings have shown that inhibition of the PD-1 pathway has clinical benefit…”
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5
matchbox: An open‐source tool for patient matching via the Matchmaker Exchange
Published in Human mutation (01-12-2018)“…Rare disease investigators constantly face challenges in identifying additional cases to build evidence for gene‐disease causality. The Matchmaker Exchange…”
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Unique bioinformatic approach and comprehensive reanalysis improve diagnostic yield of clinical exomes
Published in European journal of human genetics : EJHG (01-09-2019)“…Clinical exome sequencing (CES) is increasingly being utilized; however, a large proportion of patients remain undiagnosed, creating a need for a systematic…”
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Health Motivation in the Influencer Era: Analyzing Entertainment, Personal, and Social Media Role Models
Published in Health communication (30-04-2024)“…This research explored how personal and entertainment role models motivate an individual's health goals, and how following a role model on social media affects…”
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8
What drives support for self-driving car technology in the United States?
Published in Journal of risk research (03-03-2020)“…Recent advances in automotive technology have made fully automated self-driving cars technologically feasible. Despite offering many benefits such as increased…”
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BeTheMatch: Assessing How Testimonials on Reddit Promote the Importance of Donating Bone Marrow
Published in Journal of health communication (02-08-2020)“…This study explores how sharing testimonials on the social media network Reddit may encourage individuals to donate bone marrow. The theory of planned behavior…”
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Characterization of Prevalence and Health Consequences of Uniparental Disomy in Four Million Individuals from the General Population
Published in American journal of human genetics (07-11-2019)“…Meiotic nondisjunction and resulting aneuploidy can lead to severe health consequences in humans. Aneuploidy rescue can restore euploidy but may result in…”
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Prenatal smoking and age at menarche: influence of the prenatal environment on the timing of puberty
Published in Human reproduction (Oxford) (01-04-2015)“…STUDY QUESTION Do prenatal exposure to cigarette smoking and birthweight influence age at menarche (AAM) in a cohort of Australian girls? SUMMARY ANSWER We…”
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A scripting interface for GSAS‐II
Published in Journal of applied crystallography (01-08-2018)“…The GSAS‐II suite is a complete crystallographic analysis package for all types of X‐ray and neutron diffraction data, suited for fitting models ranging from…”
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13
Hyperconserved CpG domains underlie Polycomb-binding sites
Published in Proceedings of the National Academy of Sciences - PNAS (27-03-2007)“…Comparative genomics of CpG dinucleotides, which are targets of DNA methyltransferases in vertebrate genomes, has been constrained by their evolutionary…”
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Pathogenic ASXL1 somatic variants in reference databases complicate germline variant interpretation for Bohring–Opitz Syndrome
Published in Human mutation (01-05-2017)“…The clinical interpretation of genetic variants has come to rely heavily on reference population databases such as the Exome Aggregation Consortium (ExAC)…”
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Cardiac Tumors: Optimal Cardiac MR Sequences and Spectrum of Imaging Appearances
Published in American journal of roentgenology (1976) (01-08-2009)“…This article reviews the optimal cardiac MRI sequences for and the spectrum of imaging appearances of cardiac tumors. Recent technologic advances in cardiac…”
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Image Gallery: Symmetrical bilateral acrometastases of the great toes in metastatic renal cell carcinoma
Published in British journal of dermatology (1951) (01-10-2017)Get full text
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MethylomeDB: a database of DNA methylation profiles of the brain
Published in Nucleic acids research (01-01-2012)“…MethylomeDB (http://epigenomics.columbia.edu/methylomedb/index.html) is a new database containing genome-wide brain DNA methylation profiles. DNA methylation…”
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Retrospective evaluation of adjuvant capecitabine dosing patterns in triple negative breast cancer
Published in Journal of oncology pharmacy practice (13-10-2024)“…The CREATE-X trial demonstrated that adjuvant capecitabine was effective in prolonging survival in high-risk triple-negative breast cancer (TNBC) patients…”
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The ImPreSS Trial: Implementation of Point‐of‐Care Pharmacogenomic Decision Support in Perioperative Care
Published in Clinical pharmacology and therapeutics (01-12-2019)Get full text
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Increased DNA methylation in the suicide brain
Published in Dialogues in clinical neuroscience (01-09-2014)“…Clinical studies find that childhood adversity and stressful life events in adulthood increase the risk for major depression and for suicide. The…”
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