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E. Cirulli · SciRah

Researcher profile · Semantic Scholar

E. Cirulli

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E. Cirulli — researcher profile on SciRah

h-index: 27
Works: 49
Citations: 6,664

Most-cited papers

Uncovering the roles of rare variants in common disease through whole-genome sequencing
E. Cirulli, D. Goldstein
2010Nature reviews genetics1,182 citations
Semantic Scholar
Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways
E. Cirulli, Brittany N. Lasseigne, S. Petrovski, P. Sapp +67 more
2015Science963 citations Open access
Semantic Scholar
Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function
G. Davies, Max Lam, S. Harris, Joey W. Trampush +218 more
2018Nature Communications644 citations Open access
Semantic Scholar
Mutations in the Profilin 1 Gene Cause Familial Amyotrophic Lateral Sclerosis
Chi-Hong Wu, C. Fallini, N. Ticozzi, P. Keagle +34 more
2012Nature620 citations Open access
Semantic Scholar
Common Genetic Variation and the Control of HIV-1 in Humans
J. Fellay, D. Ge, K. Shianna, S. Colombo +33 more
2009PLoS Genetics481 citations Open access
Semantic Scholar
Cold Urticaria, Immunodeficiency, and Autoimmunity Related to PLCG2 Deletions
M. Ombrello, E. Remmers, Guang-Ping Sun, A. Freeman +35 more
2012Pediatrics379 citations Open access
Semantic Scholar
Whole-Genome Sequencing of a Single Proband Together with Linkage Analysis Identifies a Mendelian Disease Gene
N. Sobreira, E. Cirulli, D. Avramopoulos, Elizabeth Wohler +12 more
2010PLoS Genetics218 citations Open access
Semantic Scholar
The Characterization of Twenty Sequenced Human Genomes
K. Pelak, K. Shianna, D. Ge, J. Maia +21 more
2010PLoS Genetics167 citations Open access
Semantic Scholar
Using ERDS to infer copy-number variants in high-coverage genomes.
Mingfu Zhu, A. Need, Yujun Han, D. Ge +12 more
2012American Journal of Human Genetics162 citations Open access
Semantic Scholar
A comparison of the Cambridge Automated Neuropsychological Test Battery (CANTAB) with “traditional” neuropsychological testing instruments
Patrick J. Smith, A. Need, E. Cirulli, O. Chiba-Falek +1 more
2013Journal of Clinical and Experimental Neuropsychology157 citations
Semantic Scholar
Screening the human exome: a comparison of whole genome and whole transcriptome sequencing
E. Cirulli, Abanish Singh, K. Shianna, Dongliang Ge +6 more
2010Genome Biology153 citations Open access
Semantic Scholar
A genome-wide study of common SNPs and CNVs in cognitive performance in the CANTAB.
A. Need, D. Attix, Jill M. McEvoy, E. Cirulli +12 more
2009Human Molecular Genetics140 citations Open access
Semantic Scholar
Inosine triphosphate protects against ribavirin-induced adenosine triphosphate loss by adenylosuccinate synthase function.
Hitomi Yuki, E. Cirulli, J. Fellay, J. Mchutchison +5 more
2011Gastroenterology124 citations Open access
Semantic Scholar
Large-scale Cognitive GWAS Meta-Analysis Reveals Tissue-Specific Neural Expression and Potential Nootropic Drug Targets
Max Lam, Joey W. Trampush, Jin Yu, E. Knowles +61 more
2017bioRxiv121 citations Open access
Semantic Scholar
Pleiotropic Meta-Analysis of Cognition, Education, and Schizophrenia Differentiates Roles of Early Neurodevelopmental and Adult Synaptic Pathways
Max Lam, W. Hill, Joey W. Trampush, Jin Yu +64 more
2019bioRxiv115 citations Open access
Semantic Scholar
Exome sequencing followed by large-scale genotyping fails to identify single rare variants of large effect in idiopathic generalized epilepsy.
E. Heinzen, C. Depondt, G. Cavalleri, E. Ruzzo +26 more
2012American Journal of Human Genetics112 citations Open access
Semantic Scholar
Common genetic variation and performance on standardized cognitive tests
E. Cirulli, D. Kasperavičiūtė, D. Attix, A. Need +3 more
2010European Journal of Human Genetics108 citations Open access
Semantic Scholar
Exome sequencing followed by large-scale genotyping suggests a limited role for moderately rare risk factors of strong effect in schizophrenia.
A. Need, J. Mcevoy, M. Gennarelli, E. Heinzen +17 more
2012American Journal of Human Genetics103 citations Open access
Semantic Scholar
In vitro assays fail to predict in vivo effects of regulatory polymorphisms.
E. Cirulli, D. Goldstein
2007Human Molecular Genetics86 citations Open access
Semantic Scholar
Functional Genomic Analyses of Mendelian and Sporadic Disease Identify Impaired eIF2α Signaling as a Generalizable Mechanism for Dystonia
Joseph E. Rittiner, Z. Caffall, R. Hernández-Martínez, Sydney M. Sanderson +17 more
2016Neuron84 citations Open access
Semantic Scholar
SVA: software for annotating and visualizing sequenced human genomes
D. Ge, E. Ruzzo, K. Shianna, Min He +10 more
2011Bioinform.76 citations Open access
Semantic Scholar
Failure to replicate effect of kibra on human memory in two large cohorts of European origin
A. Need, D. Attix, Jill M. McEvoy, E. Cirulli +12 more
2008American Journal of Medical Genetics Part B: Neuropsychiatric Genetics76 citations Open access
Semantic Scholar
Novel mutation in VCP gene causes atypical amyotrophic lateral sclerosis
P. Gonzalez-Perez, E. Cirulli, V. Drory, R. Dabby +10 more
2012Neurology74 citations Open access
Semantic Scholar
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
A. Need, D. Kasperavičiūtė, E. Cirulli, D. Goldstein
2009Genome Biology67 citations Open access
Semantic Scholar
COMT val108/158 met genotype affects neural but not cognitive processing in healthy individuals.
N. Dennis, A. Need, K. LaBar, Sheena Waters-Metenier +4 more
2010Cerebral Cortex57 citations Open access
Semantic Scholar
Sensitivity of whole exome sequencing in detecting infantile- and late-onset Pompe disease
M. Mori, G. Haskell, Z. Kazi, Xiaolin Zhu +6 more
2017Molecular Genetics and Metabolism30 citations Open access
Semantic Scholar
GWAS meta-analysis (N=279,930) identifies new genes and functional links to intelligence
J. Savage, P. Jansen, S. Stringer, Kyoko Watanabe +113 more
2017bioRxiv29 citations Open access
Semantic Scholar
Identifying nootropic drug targets via large-scale cognitive GWAS and transcriptomics
Max Lam, Chia-Yen Chen, T. Ge, Yan Xia +67 more
2020bioRxiv21 citations Open access
Semantic Scholar
A new approach for rare variation collapsing on functional protein domains implicates specific genic regions in ALS
S. Gelfman, Sarah A. Dugger, Cristiane de Araújo Martins Moreno, Z. Ren +15 more
2019Genome Research20 citations Open access
Semantic Scholar
Genetic and environmental correlates of topiramate-induced cognitive impairment
E. Cirulli, T. Urban, Susan E. Marino, Kristen N. Linney +5 more
2011Epilepsia20 citations Open access
Semantic Scholar
Ninety-nine independent genetic loci influencing general cognitive function include genes associated with brain health and structure (N = 280,360)
G. Davies, Max Lam, S. Harris, Joey W. Trampush +214 more
2017bioRxiv16 citations Open access
Semantic Scholar
The Increasing Importance of Gene-Based Analyses
E. Cirulli
2016PLoS Genetics16 citations Open access
Semantic Scholar
A whole-genome analysis of premature termination codons
E. Cirulli, E. Heinzen, F. Dietrich, K. Shianna +4 more
2011Genomics16 citations Open access
Semantic Scholar
Author Correction: Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function
G. Davies, Max Lam, S. Harris, Joey W. Trampush +218 more
2019Nature Communications12 citations Open access
Semantic Scholar
Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function (vol 9, 2098, 2018)
G. Davies, Max Lam, S. Harris, Joey W. Trampush +218 more
20198 citations
Semantic Scholar
Contribution of Pastimes and Testing Strategies to the Performance of Healthy Volunteers on Cognitive Tests
E. Cirulli, D. Attix, Patrick J. Smith, O. Chiba-Falek +3 more
2011Clinical Neuropsychologist7 citations
Semantic Scholar
Regional Collapsing of Rare Variation Implicates Specific Genic Regions in ALS
S. Gelfman, Sarah A. Dugger, Cristiane de Araújo Martins Moreno, Z. Ren +15 more
2018bioRxiv4 citations Open access
Semantic Scholar
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
J. Fellay, K. Shianna, E. Cirulli, J. McElrath +4 more
2009Retrovirology4 citations Open access
Semantic Scholar
Multi-Trait Analysis of GWAS and Biological Insights Into Cognition: A Response to Hill (2018)
Max Lam, Joey W. Trampush, Jin Yu, E. Knowles +57 more
2018Twin Research and Human Genetics3 citations Open access
Semantic Scholar
Peer Review #1 of "Detection and benchmarking of somatic mutations in cancer genomes using RNA-seq data (v0.1)"
Alexandre Coudray, A. Battenhouse, Phillip Bucher, V. Iyer +496 more
20180 citations Open access
Semantic Scholar
300,486 individuals identifies 148 independent genetic loci influencing general
G. Davies, Max Lam, S. Harris, Joey W. Trampush +140 more
20180 citations
Semantic Scholar
identifies 148 independent genetic loci influencing general cognitive function Permalink
G. Davies, Max Lam, S. Harris, Joey W. Trampush +140 more
20180 citations
Semantic Scholar
Resource Large-Scale Cognitive GW AS Meta-Analysis Reveals Tissue-Specific Neural Expression and Potential Nootropic Drug Targets Graphical
Max Lam, Joey W. Trampush, Jin Yu, E. Knowles +34 more
20170 citations
Semantic Scholar
Identification of modifier genes of Pompe disease phenotype by variant analysis of whole exome sequencing data
M. Mori, Z. Kazi, Xiaolin Zhu, K. Barrier +3 more
20160 citations
Semantic Scholar
Large-scale exome sequencing in ALS identifies new risk genes and pathways (S34.005)
M. Harms, E. Cirulli, Brittany N. Lasseigne, T. Harris +2 more
2015Neurology0 citations
Semantic Scholar
Large-scale exome sequencing in ALS identifies new risk genes and pathways (I8-3A)
Matthew Harms, E. Cirulli, Brittany N. Lasseigne, Tim Harris +2 more
2015Neurology0 citations
Semantic Scholar
Genetic and Environmental Contributions to Baseline Cognitive Ability and Cognitive Response to Topiramate
E. Cirulli
20100 citations
Semantic Scholar
Corrigendum to: Common genetic variation and performance on standardized cognitive tests
E. Cirulli, D. Kasperavičiūtė, D. Attix, A. Need +3 more
2010European Journal of Human Genetics0 citations Open access
Semantic Scholar
Brief Research Communication Failure to Replicate Effect of Kibra on Human Memory in Two Large Cohorts of European Origin
A. Need, D. Attix, Jill M. McEvoy, E. Cirulli +11 more
20080 citations
Semantic Scholar

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