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Author Details

Elizabeth T Cirulli
Duke University
2007
65
36
PMIDPaper TitleJournal TitlePublished Year
36637017Cardiomyopathy prevalence exceeds 30% in individuals with TTN variants and early atrial fibrillation.Genet Med2023
35005651HLA-Aâ¿¿03:01 is associated with increased risk of fever, chills, and stronger side effects from Pfizer-BioNTech COVID-19 vaccination.HGG Adv2022
35411350Wastewater sequencing uncovers early, cryptic SARS-CoV-2 variant transmission.medRxiv2022
35474739SARS-CoV-2 variant Delta rapidly displaced variant Alpha in the United States and led to higher viral loads.Cell Rep Med2022
35798029Wastewater sequencing reveals early cryptic SARS-CoV-2 variant transmission.Nature2022
36327219Exome-wide association study to identify rare variants influencing COVID-19 outcomes: Results from the Host Genetics Initiative.PLoS Genet2022
34385667Positive predictive value highlights four novel candidates for actionable genetic screening from analysis of 220,000 clinicogenomic records.Genet Med2021
33763119Genome-Wide Identification of Rare and Common Variants Driving Triglyceride Levels in a Nevada Population.Front Genet2021
33861950Emergence and rapid transmission of SARS-CoV-2 B.1.1.7 in the United States.Cell2021
33046911Pathogenic variants in actionable MODY genes are associated with type 2 diabetes.Nat Metab2020
31992710Genome-wide rare variant analysis for thousands of phenotypes in over 70,000 exomes from two cohorts.Nat Commun2020
31924279An unsupervised learning approach to identify novel signatures of health and disease from multimodal data.Genome Med2020
30318341Profound Perturbation of the Metabolome in Obesity Is Associated with Health Risk.Cell Metab2019
31374203Pleiotropic Meta-Analysis of Cognition, Education, and Schizophrenia Differentiates Roles of Early Neurodevelopmental and Adult Synaptic Pathways.Am J Hum Genet2019
30940688A new approach for rare variation collapsing on functional protein domains implicates specific genic regions in ALS.Genome Res2019
30934130Severe and protracted cholestasis in 44 young men taking bodybuilding supplements: assessment of genetic, clinical and chemical risk factors.Aliment Pharmacol Ther2019
31169665Antimicrobials and Antiepileptics Are the Leading Causes of Idiosyncratic Drug-induced Liver Injury in American Children.J Pediatr Gastroenterol Nutr2019
29398597Acetaminophen (Paracetamol) Use Modifies the Sulfation of Sex Hormones.EBioMedicine2018
30001766Multi-Trait Analysis of GWAS and Biological Insights Into Cognition: A Response to Hill (2018).Twin Res Hum Genet2018
29942086Genome-wide association meta-analysis in 269,867 individuals identifies new genetic and functional links to intelligence.Nat Genet2018
30138689The role of HLA-A*33:01 in patients with cholestatic hepatitis attributed to terbinafine.J Hepatol2018
27510747Studying genetic resilience to improve human health.Oral Dis2017
28323125Minocycline hepatotoxicity: Clinical characterization and identification of HLA-Bâ¿¿35:02 as a risk factor.J Hepatol2017
28093568GWAS meta-analysis reveals novel loci and genetic correlates for general cognitive function: a report from the COGENT consortium.Mol Psychiatry2017
29184080Factors affecting pitch discrimination performance in a cohort of extensively phenotyped healthy volunteers.Sci Rep2017
29122469Sensitivity of whole exome sequencing in detecting infantile- and late-onset Pompe disease.Mol Genet Metab2017
29119413Identification and Characterization of Fenofibrate-Induced Liver Injury.Dig Dis Sci2017
29068436GWAS meta-analysis reveals novel loci and genetic correlates for general cognitive function: a report from the COGENT consortium.Mol Psychiatry2017
29186694Large-Scale Cognitive GWAS Meta-Analysis Reveals Tissue-Specific Neural Expression and Potential Nootropic Drug Targets.Cell Rep2017
28043905Association of Liver Injury From Specific Drugs, or Groups of Drugs, With Polymorphisms in HLA and Other Genes in a Genome-Wide Association Study.Gastroenterology2017
27055023The Increasing Importance of Gene-Based Analyses.PLoS Genet2016
27939583Functional Genomic Analyses of Mendelian and Sporadic Disease Identify Impaired eIF2α Signaling as a Generalizable Mechanism for Dystonia.Neuron2016
26886100Individual Differences in Scotopic Visual Acuity and Contrast Sensitivity: Genetic and Non-Genetic Influences.PLoS One2016
25246238Systematic assessment of imputation performance using the 1000 Genomes reference panels.Brief Bioinform2015
26641268Analysis of Genetic and Non-Genetic Factors Influencing Timing and Time Perception.PLoS One2015
25700176Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways.Science2015
24632594Individual variation in contagious yawning susceptibility is highly stable and largely unexplained by empathy or other known factors.PLoS One2014
23444947A comparison of the Cambridge Automated Neuropsychological Test Battery (CANTAB) with "traditional" neuropsychological testing instruments.J Clin Exp Neuropsychol2013
23603273Position effect on FGF13 associated with X-linked congenital generalized hypertrichosis.Proc Natl Acad Sci U S A2013
22091778Genetic and environmental correlates of topiramate-induced cognitive impairment.Epilepsia2012
22939633Using ERDS to infer copy-number variants in high-coverage genomes.Am J Hum Genet2012
23152587Novel mutation in VCP gene causes atypical amyotrophic lateral sclerosis.Neurology2012
22801503Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis.Nature2012
22863191Exome sequencing followed by large-scale genotyping suggests a limited role for moderately rare risk factors of strong effect in schizophrenia.Am J Hum Genet2012
22863189Exome sequencing followed by large-scale genotyping fails to identify single rare variants of large effect in idiopathic generalized epilepsy.Am J Hum Genet2012
22236196Cold urticaria, immunodeficiency, and autoimmunity related to PLCG2 deletions.N Engl J Med2012
21278214Host genetic determinants of T cell responses to the MRKAd5 HIV-1 gag/pol/nef vaccine in the step trial.J Infect Dis2011
21803148A whole-genome analysis of premature termination codons.Genomics2011
21624899SVA: software for annotating and visualizing sequenced human genomes.Bioinformatics2011
21722049Contribution of pastimes and testing strategies to the performance of healthy volunteers on cognitive tests.Clin Neuropsychol2011
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Collaborators

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University of Oslo
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University Medical School
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Lieber Institute for Brain Development
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