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List of works by Elizabeth T Cirulli

A Missense Variant in PTPN22 is a Risk Factor for Drug-induced Liver Injury

scientific article published on 18 January 2019

A comparison of the Cambridge Automated Neuropsychological Test Battery (CANTAB) with "traditional" neuropsychological testing instruments

scientific article published on 27 February 2013

A genome-wide genetic signature of Jewish ancestry perfectly separates individuals with and without full Jewish ancestry in a large random sample of European Americans

scientific article

A genome-wide study of common SNPs and CNVs in cognitive performance in the CANTAB

scientific article

A new approach for rare variation collapsing on functional protein domains implicates specific genic regions in ALS

scientific article published on 02 April 2019

A whole-genome analysis of premature termination codons

scientific article published on 22 July 2011

Acetaminophen (Paracetamol) Use Modifies the Sulfation of Sex Hormones

scientific article published in February 2018

An unsupervised learning approach to identify novel signatures of health and disease from multimodal data

scientific article published on 10 January 2020

Analysis of Genetic and Non-Genetic Factors Influencing Timing and Time Perception

scientific article published on 7 December 2015

Association of Liver Injury From Specific Drugs, or Groups of Drugs, With Polymorphisms in HLA and Other Genes in a Genome-Wide Association Study

scientific article published on 30 December 2016

Author Correction: Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function ⬇️

scientific article published on 01 May 2019

COMT val108/158 met genotype affects neural but not cognitive processing in healthy individuals

scientific article

Cold urticaria, immunodeficiency, and autoimmunity related to PLCG2 deletions

scientific article published on 11 January 2012

Common genetic variation and performance on standardized cognitive tests

scientific article

Common genetic variation and the control of HIV-1 in humans

scientific article published in December 2009

Contribution of pastimes and testing strategies to the performance of healthy volunteers on cognitive tests

scientific article published on 4 July 2011

Corrigendum to: Common genetic variation and performance on standardized cognitive tests.

scientific article published on 17 June 2010

Emergence and rapid transmission of SARS-CoV-2 B.1.1.7 in the United States

scientific article

Exome sequencing followed by large-scale genotyping fails to identify single rare variants of large effect in idiopathic generalized epilepsy

scientific article

Exome sequencing followed by large-scale genotyping suggests a limited role for moderately rare risk factors of strong effect in schizophrenia

scientific article

Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways

scientific article published on 19 February 2015

Exome-wide association study to identify rare variants influencing COVID-19 outcomes: Results from the Host Genetics Initiative

scientific article published in November 2022

Failure to replicate effect of Kibra on human memory in two large cohorts of European origin

scientific article

Fine-scale crossover rate heterogeneity in Drosophila pseudoobscura.

scientific article published on 6 December 2006

GWAS meta-analysis (N=279,930) identifies new genes and functional links to intelligence

article

GWAS meta-analysis reveals novel loci and genetic correlates for general cognitive function: a report from the COGENT consortium

scientific article published on 12 September 2017

GWAS meta-analysis reveals novel loci and genetic correlates for general cognitive function: a report from the COGENT consortium.

scientific article published on 17 January 2017

Genetic and environmental correlates of topiramate-induced cognitive impairment

scientific article published on 16 November 2011

Genome-wide association meta-analysis in 269,867 individuals identifies new genetic and functional links to intelligence

article

Genome-wide rare variant analysis for thousands of phenotypes in over 70,000 exomes from two cohorts

scientific article published on 28 January 2020

Host genetic determinants of T cell responses to the MRKAd5 HIV-1 gag/pol/nef vaccine in the step trial

scientific article

In vitro assays fail to predict in vivo effects of regulatory polymorphisms

scientific article published on 12 June 2007

Individual Differences in Scotopic Visual Acuity and Contrast Sensitivity: Genetic and Non-Genetic Influences

scientific article published on 17 February 2016

Individual variation in contagious yawning susceptibility is highly stable and largely unexplained by empathy or other known factors

scientific article

Inosine triphosphate protects against ribavirin-induced adenosine triphosphate loss by adenylosuccinate synthase function

scientific article

Large-Scale Cognitive GWAS Meta-Analysis Reveals Tissue-Specific Neural Expression and Potential Nootropic Drug Targets

scientific article

Localization and characterization of X chromosome inversion breakpoints separating Drosophila mojavensis and Drosophila arizonae

scientific article published on 28 December 2006

Multi-Trait Analysis of GWAS and Biological Insights Into Cognition: A Response to Hill (2018)

scientific article published on 13 July 2018

Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis

scientific article

Ninety-nine independent genetic loci influencing general cognitive function include genes associated with brain health and structure (N = 280,360)

Novel mutation in VCP gene causes atypical amyotrophic lateral sclerosis

scientific article published on 14 November 2012

P08-06 LB. A genome-wide association study of host genetic determinants of T cell responses to the MRKAd5 HIV-1 gag/pol/nef vaccine in the STEP trial.

scientific article published on 22 October 2009

Pathogenic variants in actionable MODY genes are associated with type 2 diabetes

scientific article published on 12 October 2020

Pleiotropic Meta-Analysis of Cognition, Education, and Schizophrenia Differentiates Roles of Early Neurodevelopmental and Adult Synaptic Pathways

scientific article published on 01 August 2019

Precision medicine integrating whole-genome sequencing, comprehensive metabolomics, and advanced imaging

scientific article published on 24 January 2020

Profound Perturbation of the Metabolome in Obesity Is Associated with Health Risk

article

Revealing variants in SARS-CoV-2 interaction domain of ACE2 and loss of function intolerance through analysis of >200,000 exomes

scientific article published on 17 April 2020

SARS-CoV-2 variant Delta rapidly displaced variant Alpha in the United States and led to higher viral loads

publication published on 15 March 2022

SVA: software for annotating and visualizing sequenced human genomes

scientific article

Screening the human exome: a comparison of whole genome and whole transcriptome sequencing

scientific article

Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function ⬇️

scientific article published on 29 May 2018

Systematic assessment of imputation performance using the 1000 Genomes reference panels

scientific article

The characterization of twenty sequenced human genomes

scientific article

The fractionated orthology of Bs2 and Rx/Gpa2 supports shared synteny of disease resistance in the Solanaceae

scientific article published on 27 May 2009

Uncovering the roles of rare variants in common disease through whole-genome sequencing

scientific article published on June 2010

Using ERDS to infer copy-number variants in high-coverage genomes

scientific article

Wastewater sequencing reveals early cryptic SARS-CoV-2 variant transmission

scientific article published in September 2022

Wastewater sequencing uncovers early, cryptic SARS-CoV-2 variant transmission

preprint

Whole-genome sequencing of a single proband together with linkage analysis identifies a Mendelian disease gene

scientific article published in June 2010

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