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Author Details

Iftikhar J Kullo
Mayo Clinic
1995
364
62
PMIDPaper TitleJournal TitlePublished Year
37620596Principles and methods for transferring polygenic risk scores across global populations.Nat Rev Genet2024
37752310A linear weighted combination of polygenic scores for a broad range of traits improves prediction of coronary heart disease.Eur J Hum Genet2024
38006208Rare loss-of-function variants in matrisome genes are enriched in Ebstein's anomaly.HGG Adv2024
36737471Evaluation of the portability of computable phenotypes with natural language processing in the eMERGE network.Sci Rep2023
37635785Heterozygous nonsense variants in laminin subunit 3α resulting in Ebstein's anomaly.HGG Adv2023
37662324Clinical consequences of a polygenic predisposition to benign lower white blood cell counts: Consequences of benign WBC count genetics.medRxiv2023
37898691Genetic variation in the human leukocyte antigen region confers susceptibility to Clostridioides difficile infection.Sci Rep2023
37883979Prospective, multi-site study of healthcare utilization after actionable monogenic findings from clinical sequencing.Am J Hum Genet2023
37689782Projecting genetic associations through gene expression patterns highlights disease etiology and drug mechanisms.Nat Commun2023
37821076Deep generative models of LDLR protein structure to predict variant pathogenicity.J Lipid Res2023
38036523Strong protective effect of the APOL1 p.N264K variant against G2-associated focal segmental glomerulosclerosis and kidney disease.Nat Commun2023
37968452Author Correction: Genetic variation in the human leukocyte antigen region confers susceptibility to Clostridioides difficile infection.Sci Rep2023
37373918Clinician Perspectives on Clinical Decision Support for Familial Hypercholesterolemia.J Pers Med2023
37071725Familial Hypercholesterolemia in the Electronic Medical Records and Genomics Network: Prevalence, Penetrance, Cardiovascular Risk, and Outcomes After Return of Results.Circ Genom Precis Med2023
37223852Implementing Reporting Standards for Polygenic Risk Scores for Atherosclerotic Cardiovascular Disease.Curr Atheroscler Rep2023
37161822Daytime Versus Nighttime Ambulatory Blood Pressure Monitoring in Coarctation of Aorta.Hypertension2023
37028392Evidence of epistasis in regions of long-range linkage disequilibrium across five complex diseases in the UK Biobank and eMERGE datasets.Am J Hum Genet2023
36621880Returning integrated genomic risk and clinical recommendations: The eMERGE study.Genet Med2023
36718804Examining the Impact of Polygenic Risk Information in Primary Care.J Prim Care Community Health2023
36474423Characterizing variability of electronic health record-driven phenotype definitions.J Am Med Inform Assoc2023
36540998Quantifying factors that affect polygenic risk score performance across diverse ancestries and age groups for body mass index.Pac Symp Biocomput2023
34664742Penalized mediation models for multivariate data.Genet Epidemiol2022
35710995Genome-wide polygenic score to predict chronic kidney disease across ancestries.Nat Med2022
35796859Use of Polygenic Risk Scores for Coronary Heart Disease in Ancestrally Diverse Populations.Curr Cardiol Rep2022
35765100Development and validation of a trans-ancestry polygenic risk score for type 2 diabetes in diverse populations.Genome Med2022
35701404Large-scale genomic analyses reveal insights into pleiotropy across circulatory system diseases and nervous system disorders.Nat Commun2022
35595084Multiancestral polygenic risk score for pediatric asthma.J Allergy Clin Immunol2022
35354965Polygenic scores in biomedical research.Nat Rev Genet2022
36372681Quantifying the phenome-wide disease burden of obesity using electronic health records and genomics.Obesity (Silver Spring)2022
36204653The burden of severe hypercholesterolemia and familial hypercholesterolemia in a population-based setting in the US.Am J Prev Cardiol2022
36173399A pragmatic clinical trial of cascade testing for familial hypercholesterolemia.Genet Med2022
36344291Lipoprotein(a) lowering and cardiovascular risk reduction by PCSK9 inhibitors.Atherosclerosis2022
35915156Large-scale genome-wide association study of coronary artery disease in genetically diverse populations.Nat Med2022
36376295Genome-wide association and multi-trait analyses characterize the common genetic architecture of heart failure.Nat Commun2022
36252120Validation of Polygenic Risk Scores for Coronary Heart Disease in a Middle Eastern Cohort Using Whole Genome Sequencing.Circ Genom Precis Med2022
35943490Pathogenic variants in arteriopathy genes detected in a targeted sequencing study: Penetrance and 1-year outcomes after return of results.Genet Med2022
35226188Uterine fibroid polygenic risk score (PRS) associates and predicts risk for uterine fibroid.Hum Genet2022
35287515Polygenic risk score for peripheral artery disease: A tool to refine risk stratification.Vasc Med2022
35216901The reckoning: The return of genomic results to 1444 participants across the eMERGE3 Network.Genet Med2022
35090449Under-specification as the source of ambiguity and vagueness in narrative phenotype algorithm definitions.BMC Med Inform Decis Mak2022
35331649Implementation of preemptive DNA sequence-based pharmacogenomics testing across a large academic medical center: The Mayo-Baylor RIGHT 10K Study.Genet Med2022
34902367Transgelin: a new gene involved in LDL endocytosis identified by a genome-wide CRISPR-Cas9 screen.J Lipid Res2022
34930020Arrhythmia Variant Associations and Reclassifications in the eMERGE-III Sequencing Study.Circulation2022
35166678Web-Based Tool (FH Family Share) to Increase Uptake of Cascade Testing for Familial Hypercholesterolemia: Development and Evaluation.JMIR Hum Factors2022
34791038Clinical Applications Measuring Arterial Stiffness: An Expert Consensus for the Application of Cardio-Ankle Vascular Index.Am J Hypertens2022
34665896Do research participants share genomic screening results with family members?J Genet Couns2022
32952152Evaluation of the MC4R gene across eMERGE network identifies many unreported obesity-associated variants.Int J Obes (Lond)2021
36046768Returning negative results from large-scale genomic screening: Experiences from the eMERGE III network.Am J Med Genet A2021
33854068Genetic basis of hypercholesterolemia in adults.NPJ Genom Med2021
33824501Penetrance and outcomes at 1-year following return of actionable variants identified by genome sequencing.Genet Med2021
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Center for Systems Genomics, Pennsylvania State University, University Park
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Vanderbilt University Medical Center
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Kaiser Permanente Washington Health Research Institute
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University of Pennsylvania
Co-authored papers 34
University of Minnesota Medical School, 1035 University Drive duluth
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Co-authored papers 33
The Center for Applied Genomics, Children's Hospital of Philadelphia
Co-authored papers 31
University of Washington Medical Center
Co-authored papers 31
Biomedical Ethics, Mayo Clinic and Foundation
Co-authored papers 28
National Human Genome Research Institute, National Institutes of Health
Co-authored papers 28
Center for Precision Medicine Research, Marshfield Clinic Research Institute
Co-authored papers 27
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National Human Genome Research Institute
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Mayo Clinic
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Cornell University
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