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Author Details
Full Name
Iftikhar J Kullo
Affiliation
Mayo Clinic
ORCID
Career Start Year
1995
Papers
364
H Index
62
Expertise
CM4AI Collaborator
PMID
Paper Title
Journal Title
Published Year
37620596
Principles and methods for transferring polygenic risk scores across global populations.
Nat Rev Genet
2024
37752310
A linear weighted combination of polygenic scores for a broad range of traits improves prediction of coronary heart disease.
Eur J Hum Genet
2024
38006208
Rare loss-of-function variants in matrisome genes are enriched in Ebstein's anomaly.
HGG Adv
2024
36737471
Evaluation of the portability of computable phenotypes with natural language processing in the eMERGE network.
Sci Rep
2023
37635785
Heterozygous nonsense variants in laminin subunit 3α resulting in Ebstein's anomaly.
HGG Adv
2023
37662324
Clinical consequences of a polygenic predisposition to benign lower white blood cell counts: Consequences of benign WBC count genetics.
medRxiv
2023
37898691
Genetic variation in the human leukocyte antigen region confers susceptibility to Clostridioides difficile infection.
Sci Rep
2023
37883979
Prospective, multi-site study of healthcare utilization after actionable monogenic findings from clinical sequencing.
Am J Hum Genet
2023
37689782
Projecting genetic associations through gene expression patterns highlights disease etiology and drug mechanisms.
Nat Commun
2023
37821076
Deep generative models of LDLR protein structure to predict variant pathogenicity.
J Lipid Res
2023
38036523
Strong protective effect of the APOL1 p.N264K variant against G2-associated focal segmental glomerulosclerosis and kidney disease.
Nat Commun
2023
37968452
Author Correction: Genetic variation in the human leukocyte antigen region confers susceptibility to Clostridioides difficile infection.
Sci Rep
2023
37373918
Clinician Perspectives on Clinical Decision Support for Familial Hypercholesterolemia.
J Pers Med
2023
37071725
Familial Hypercholesterolemia in the Electronic Medical Records and Genomics Network: Prevalence, Penetrance, Cardiovascular Risk, and Outcomes After Return of Results.
Circ Genom Precis Med
2023
37223852
Implementing Reporting Standards for Polygenic Risk Scores for Atherosclerotic Cardiovascular Disease.
Curr Atheroscler Rep
2023
37161822
Daytime Versus Nighttime Ambulatory Blood Pressure Monitoring in Coarctation of Aorta.
Hypertension
2023
37028392
Evidence of epistasis in regions of long-range linkage disequilibrium across five complex diseases in the UK Biobank and eMERGE datasets.
Am J Hum Genet
2023
36621880
Returning integrated genomic risk and clinical recommendations: The eMERGE study.
Genet Med
2023
36718804
Examining the Impact of Polygenic Risk Information in Primary Care.
J Prim Care Community Health
2023
36474423
Characterizing variability of electronic health record-driven phenotype definitions.
J Am Med Inform Assoc
2023
36540998
Quantifying factors that affect polygenic risk score performance across diverse ancestries and age groups for body mass index.
Pac Symp Biocomput
2023
34664742
Penalized mediation models for multivariate data.
Genet Epidemiol
2022
35710995
Genome-wide polygenic score to predict chronic kidney disease across ancestries.
Nat Med
2022
35796859
Use of Polygenic Risk Scores for Coronary Heart Disease in Ancestrally Diverse Populations.
Curr Cardiol Rep
2022
35765100
Development and validation of a trans-ancestry polygenic risk score for type 2 diabetes in diverse populations.
Genome Med
2022
35701404
Large-scale genomic analyses reveal insights into pleiotropy across circulatory system diseases and nervous system disorders.
Nat Commun
2022
35595084
Multiancestral polygenic risk score for pediatric asthma.
J Allergy Clin Immunol
2022
35354965
Polygenic scores in biomedical research.
Nat Rev Genet
2022
36372681
Quantifying the phenome-wide disease burden of obesity using electronic health records and genomics.
Obesity (Silver Spring)
2022
36204653
The burden of severe hypercholesterolemia and familial hypercholesterolemia in a population-based setting in the US.
Am J Prev Cardiol
2022
36173399
A pragmatic clinical trial of cascade testing for familial hypercholesterolemia.
Genet Med
2022
36344291
Lipoprotein(a) lowering and cardiovascular risk reduction by PCSK9 inhibitors.
Atherosclerosis
2022
35915156
Large-scale genome-wide association study of coronary artery disease in genetically diverse populations.
Nat Med
2022
36376295
Genome-wide association and multi-trait analyses characterize the common genetic architecture of heart failure.
Nat Commun
2022
36252120
Validation of Polygenic Risk Scores for Coronary Heart Disease in a Middle Eastern Cohort Using Whole Genome Sequencing.
Circ Genom Precis Med
2022
35943490
Pathogenic variants in arteriopathy genes detected in a targeted sequencing study: Penetrance and 1-year outcomes after return of results.
Genet Med
2022
35226188
Uterine fibroid polygenic risk score (PRS) associates and predicts risk for uterine fibroid.
Hum Genet
2022
35287515
Polygenic risk score for peripheral artery disease: A tool to refine risk stratification.
Vasc Med
2022
35216901
The reckoning: The return of genomic results to 1444 participants across the eMERGE3 Network.
Genet Med
2022
35090449
Under-specification as the source of ambiguity and vagueness in narrative phenotype algorithm definitions.
BMC Med Inform Decis Mak
2022
35331649
Implementation of preemptive DNA sequence-based pharmacogenomics testing across a large academic medical center: The Mayo-Baylor RIGHT 10K Study.
Genet Med
2022
34902367
Transgelin: a new gene involved in LDL endocytosis identified by a genome-wide CRISPR-Cas9 screen.
J Lipid Res
2022
34930020
Arrhythmia Variant Associations and Reclassifications in the eMERGE-III Sequencing Study.
Circulation
2022
35166678
Web-Based Tool (FH Family Share) to Increase Uptake of Cascade Testing for Familial Hypercholesterolemia: Development and Evaluation.
JMIR Hum Factors
2022
34791038
Clinical Applications Measuring Arterial Stiffness: An Expert Consensus for the Application of Cardio-Ankle Vascular Index.
Am J Hypertens
2022
34665896
Do research participants share genomic screening results with family members?
J Genet Couns
2022
32952152
Evaluation of the MC4R gene across eMERGE network identifies many unreported obesity-associated variants.
Int J Obes (Lond)
2021
36046768
Returning negative results from large-scale genomic screening: Experiences from the eMERGE III network.
Am J Med Genet A
2021
33854068
Genetic basis of hypercholesterolemia in adults.
NPJ Genom Med
2021
33824501
Penetrance and outcomes at 1-year following return of actionable variants identified by genome sequencing.
Genet Med
2021
1 - 50 of 364
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