Elizabeth T. Cirulli, Ph.D. - Publications

Affiliations: 
Human Longevity, Inc. 
 2017 Duke University, Durham, NC 
Area:
Evolutionary Genetics

55 high-probability publications. We are testing a new system for linking publications to authors. You can help! If you notice any inaccuracies, please sign in and mark papers as correct or incorrect matches. If you identify any major omissions or other inaccuracies in the publication list, please let us know.

Year Citation  Score
2022 Butler-Laporte G, Povysil G, Kosmicki JA, Cirulli ET, Drivas T, Furini S, Saad C, Schmidt A, Olszewski P, Korotko U, Quinodoz M, Çelik E, Kundu K, Walter K, Jung J, et al. Exome-wide association study to identify rare variants influencing COVID-19 outcomes: Results from the Host Genetics Initiative. Plos Genetics. 18: e1010367. PMID 36327219 DOI: 10.1371/journal.pgen.1010367  0.548
2022 Karthikeyan S, Levy JI, De Hoff P, Humphrey G, Birmingham A, Jepsen K, Farmer S, Tubb HM, Valles T, Tribelhorn CE, Tsai R, Aigner S, Sathe S, Moshiri N, Henson B, ... ... Cirulli ET, et al. Wastewater sequencing reveals early cryptic SARS-CoV-2 variant transmission. Nature. PMID 35798029 DOI: 10.1038/s41586-022-05049-6  0.329
2022 Karthikeyan S, Levy JI, De Hoff P, Humphrey G, Birmingham A, Jepsen K, Farmer S, Tubb HM, Valles T, Tribelhorn CE, Tsai R, Aigner S, Sathe S, Moshiri N, Henson B, ... ... Cirulli ET, et al. Wastewater sequencing uncovers early, cryptic SARS-CoV-2 variant transmission. Medrxiv : the Preprint Server For Health Sciences. PMID 35411350 DOI: 10.1101/2021.12.21.21268143  0.329
2021 Read RW, Schlauch KA, Lombardi VC, Cirulli ET, Washington NL, Lu JT, Grzymski JJ. Genome-Wide Identification of Rare and Common Variants Driving Triglyceride Levels in a Nevada Population. Frontiers in Genetics. 12: 639418. PMID 33763119 DOI: 10.3389/fgene.2021.639418  0.41
2020 Cirulli ET, White S, Read RW, Elhanan G, Metcalf WJ, Tanudjaja F, Fath DM, Sandoval E, Isaksson M, Schlauch KA, Grzymski JJ, Lu JT, Washington NL. Genome-wide rare variant analysis for thousands of phenotypes in over 70,000 exomes from two cohorts. Nature Communications. 11: 542. PMID 31992710 DOI: 10.1038/S41467-020-14288-Y  0.526
2020 Hou YC, Yu HC, Martin R, Cirulli ET, Schenker-Ahmed NM, Hicks M, Cohen IV, Jönsson TJ, Heister R, Napier L, Swisher CL, Dominguez S, Tang H, Li W, Perkins BA, et al. Precision medicine integrating whole-genome sequencing, comprehensive metabolomics, and advanced imaging. Proceedings of the National Academy of Sciences of the United States of America. PMID 31980526 DOI: 10.1073/Pnas.1909378117  0.525
2019 Lam M, Hill WD, Trampush JW, Yu J, Knowles E, Davies G, Stahl E, Huckins L, Liewald DC, Djurovic S, Melle I, Sundet K, Christoforou A, Reinvang I, DeRosse P, ... ... Cirulli ET, et al. Pleiotropic Meta-Analysis of Cognition, Education, and Schizophrenia Differentiates Roles of Early Neurodevelopmental and Adult Synaptic Pathways. American Journal of Human Genetics. 105: 334-350. PMID 31374203 DOI: 10.1016/J.Ajhg.2019.06.012  0.339
2019 Gelfman S, Dugger SA, Araujo Martins Moreno C, Ren Z, Wolock CJ, Shneider N, Phatnani H, Cirulli ET, Lasseigne BN, Harris T, Maniatis T, Rouleau G, Brown RH, Gitler AD, Myers RM, et al. A new approach for rare variation collapsing on functional protein domains implicates specific genic regions in ALS. Genome Research. PMID 30940688 DOI: 10.1101/Gr.243592.118  0.517
2018 Lam M, Trampush JW, Yu J, Knowles E, Djurovic S, Melle I, Sundet K, Christoforou A, Reinvang I, DeRosse P, Lundervold AJ, Steen VM, Espeseth T, Räikkönen K, Widen E, ... ... Cirulli ET, et al. Multi-Trait Analysis of GWAS and Biological Insights Into Cognition: A Response to Hill (2018). Twin Research and Human Genetics : the Official Journal of the International Society For Twin Studies. 1-4. PMID 30001766 DOI: 10.1017/Thg.2018.46  0.387
2018 Savage JE, Jansen PR, Stringer S, Watanabe K, Bryois J, de Leeuw CA, Nagel M, Awasthi S, Barr PB, Coleman JRI, Grasby KL, Hammerschlag AR, Kaminski JA, Karlsson R, Krapohl E, ... ... Cirulli ET, et al. Genome-wide association meta-analysis in 269,867 individuals identifies new genetic and functional links to intelligence. Nature Genetics. PMID 29942086 DOI: 10.1038/S41588-018-0152-6  0.508
2018 Davies G, Lam M, Harris SE, Trampush JW, Luciano M, Hill WD, Hagenaars SP, Ritchie SJ, Marioni RE, Fawns-Ritchie C, Liewald DCM, Okely JA, Ahola-Olli AV, Barnes CLK, Bertram L, ... ... Cirulli ET, et al. Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function. Nature Communications. 9: 2098. PMID 29844566 DOI: 10.1038/S41467-018-04362-X  0.403
2018 Savage JE, Jansen PR, Stringer S, Watanabe K, Bryois J, Leeuw CAd, Nagel M, Awasthi S, Barr PB, Coleman JRI, Grasby KL, Hammerschlag AR, Kaminski J, Karlsson R, Krapohl E, ... ... Cirulli ET, et al. GWAS meta-analysis (N=279,930) identifies new genes and functional links to general cognitive ability Human Genomics. 12. DOI: 10.1186/S40246-018-0138-6  0.332
2017 Lam M, Trampush JW, Yu J, Knowles E, Davies G, Liewald DC, Starr JM, Djurovic S, Melle I, Sundet K, Christoforou A, Reinvang I, DeRosse P, Lundervold AJ, Steen VM, ... ... Cirulli ET, et al. Large-Scale Cognitive GWAS Meta-Analysis Reveals Tissue-Specific Neural Expression and Potential Nootropic Drug Targets. Cell Reports. 21: 2597-2613. PMID 29186694 DOI: 10.1016/J.Celrep.2017.11.028  0.422
2017 Smith LM, Bartholomew AJ, Burnham LE, Tillmann B, Cirulli ET. Factors affecting pitch discrimination performance in a cohort of extensively phenotyped healthy volunteers. Scientific Reports. 7: 16480. PMID 29184080 DOI: 10.1038/S41598-017-16526-8  0.353
2017 Mori M, Haskell G, Kazi Z, Zhu X, DeArmey SM, Goldstein JL, Bali D, Rehder C, Cirulli ET, Kishnani PS. Sensitivity of whole exome sequencing in detecting infantile- and late-onset Pompe disease. Molecular Genetics and Metabolism. PMID 29122469 DOI: 10.1016/J.Ymgme.2017.10.008  0.398
2017 Urban TJ, Nicoletti P, Chalasani N, Serrano J, Stolz A, Daly A, Aithal G, Dillon J, Navarro V, Odin J, Barnhart H, Ostrov D, Long N, Cirulli ET, Watkins PB, et al. Minocycline Hepatotoxicity: Clinical characterization and identification of HLA-B∗ 35:02 as a risk factor. Journal of Hepatology. PMID 28323125 DOI: 10.1016/J.Jhep.2017.03.010  0.349
2017 Trampush JW, Yang ML, Yu J, Knowles E, Davies G, Liewald DC, Starr JM, Djurovic S, Melle I, Sundet K, Christoforou A, Reinvang I, DeRosse P, Lundervold AJ, Steen VM, ... ... Cirulli ET, et al. GWAS meta-analysis reveals novel loci and genetic correlates for general cognitive function: a report from the COGENT consortium. Molecular Psychiatry. PMID 28093568 DOI: 10.1038/Mp.2016.244  0.484
2016 Nicoletti P, Aithal GP, Bjornsson ES, Andrade RJ, Sawle A, Arrese M, Barnhart HX, Bondon-Guitton E, Hayashi PH, Bessone F, Carvajal A, Cascorbi I, Cirulli ET, Chalasani N, Conforti A, et al. Association of Liver Injury From Specific Drugs, or Groups of Drugs, With Polymorphisms in HLA and Other Genes in a Genome-wide Association Study. Gastroenterology. PMID 28043905 DOI: 10.1053/J.Gastro.2016.12.016  0.388
2016 Rittiner JE, Caffall ZF, Hernández-Martinez R, Sanderson SM, Pearson JL, Tsukayama KK, Liu AY, Xiao C, Tracy S, Shipman MK, Hickey P, Johnson J, Scott B, Stacy M, Saunders-Pullman R, ... ... Cirulli ET, et al. Functional Genomic Analyses of Mendelian and Sporadic Disease Identify Impaired eIF2α Signaling as a Generalizable Mechanism for Dystonia. Neuron. PMID 27939583 DOI: 10.1016/J.Neuron.2016.11.012  0.375
2016 Cirulli ET, Ginsburg GS. Studying genetic resilience to improve human health. Oral Diseases. PMID 27510747 DOI: 10.1111/Odi.12567  0.315
2016 Cirulli ET. The Increasing Importance of Gene-Based Analyses. Plos Genetics. 12: e1005852. PMID 27055023 DOI: 10.1371/Journal.Pgen.1005852  0.422
2016 Bartholomew AJ, Lad EM, Cao D, Bach M, Cirulli ET. Individual Differences in Scotopic Visual Acuity and Contrast Sensitivity: Genetic and Non-Genetic Influences. Plos One. 11: e0148192. PMID 26886100 DOI: 10.1371/Journal.Pone.0148192  0.379
2016 Mori M, Kazi ZB, Zhu X, Barrier K, Austin S, Cirulli ET, Kishnani PS. Identification of modifier genes of Pompe disease phenotype by variant analysis of whole exome sequencing data Molecular Genetics and Metabolism. 117: S83. DOI: 10.1016/J.Ymgme.2015.12.368  0.453
2015 Bartholomew AJ, Meck WH, Cirulli ET. Analysis of Genetic and Non-Genetic Factors Influencing Timing and Time Perception. Plos One. 10: e0143873. PMID 26641268 DOI: 10.1371/Journal.Pone.0143873  0.344
2015 Cirulli ET, Lasseigne BN, Petrovski S, Sapp PC, Dion PA, Leblond CS, Couthouis J, Lu YF, Wang Q, Krueger BJ, Ren Z, Keebler J, Han Y, Levy SE, Boone BE, et al. Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways. Science (New York, N.Y.). 347: 1436-41. PMID 25700176 DOI: 10.1126/Science.Aaa3650  0.51
2015 Liu Q, Cirulli ET, Han Y, Yao S, Liu S, Zhu Q. Systematic assessment of imputation performance using the 1000 Genomes reference panels. Briefings in Bioinformatics. 16: 549-62. PMID 25246238 DOI: 10.1093/Bib/Bbu035  0.439
2014 Bartholomew AJ, Cirulli ET. Individual variation in contagious yawning susceptibility is highly stable and largely unexplained by empathy or other known factors. Plos One. 9: e91773. PMID 24632594 DOI: 10.1371/Journal.Pone.0091773  0.323
2013 DeStefano GM, Fantauzzo KA, Petukhova L, Kurban M, Tadin-Strapps M, Levy B, Warburton D, Cirulli ET, Han Y, Sun X, Shen Y, Shirazi M, Jobanputra V, Cepeda-Valdes R, Cesar Salas-Alanis J, et al. Position effect on FGF13 associated with X-linked congenital generalized hypertrichosis. Proceedings of the National Academy of Sciences of the United States of America. 110: 7790-5. PMID 23603273 DOI: 10.1073/Pnas.1216412110  0.363
2012 González-Pérez P, Cirulli ET, Drory VE, Dabby R, Nisipeanu P, Carasso RL, Sadeh M, Fox A, Festoff BW, Sapp PC, McKenna-Yasek D, Goldstein DB, Brown RH, Blumen SC. Novel mutation in VCP gene causes atypical amyotrophic lateral sclerosis. Neurology. 79: 2201-8. PMID 23152587 DOI: 10.1212/Wnl.0B013E318275963B  0.546
2012 Zhu M, Need AC, Han Y, Ge D, Maia JM, Zhu Q, Heinzen EL, Cirulli ET, Pelak K, He M, Ruzzo EK, Gumbs C, Singh A, Feng S, Shianna KV, et al. Using ERDS to infer copy-number variants in high-coverage genomes. American Journal of Human Genetics. 91: 408-21. PMID 22939633 DOI: 10.1016/J.Ajhg.2012.07.004  0.761
2012 Need AC, McEvoy JP, Gennarelli M, Heinzen EL, Ge D, Maia JM, Shianna KV, He M, Cirulli ET, Gumbs CE, Zhao Q, Campbell CR, Hong L, Rosenquist P, Putkonen A, et al. Exome sequencing followed by large-scale genotyping suggests a limited role for moderately rare risk factors of strong effect in schizophrenia. American Journal of Human Genetics. 91: 303-12. PMID 22863191 DOI: 10.1016/J.Ajhg.2012.06.018  0.589
2012 Heinzen EL, Depondt C, Cavalleri GL, Ruzzo EK, Walley NM, Need AC, Ge D, He M, Cirulli ET, Zhao Q, Cronin KD, Gumbs CE, Campbell CR, Hong LK, Maia JM, et al. Exome sequencing followed by large-scale genotyping fails to identify single rare variants of large effect in idiopathic generalized epilepsy. American Journal of Human Genetics. 91: 293-302. PMID 22863189 DOI: 10.1016/J.Ajhg.2012.06.016  0.625
2012 Wu CH, Fallini C, Ticozzi N, Keagle PJ, Sapp PC, Piotrowska K, Lowe P, Koppers M, McKenna-Yasek D, Baron DM, Kost JE, Gonzalez-Perez P, Fox AD, Adams J, Taroni F, ... ... Cirulli ET, et al. Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis. Nature. 488: 499-503. PMID 22801503 DOI: 10.1038/Nature11280  0.501
2012 Ombrello MJ, Remmers EF, Sun G, Freeman AF, Datta S, Torabi-Parizi P, Subramanian N, Bunney TD, Baxendale RW, Martins MS, Romberg N, Komarow H, Aksentijevich I, Kim HS, Ho J, ... ... Cirulli ET, et al. Cold urticaria, immunodeficiency, and autoimmunity related to PLCG2 deletions. The New England Journal of Medicine. 366: 330-8. PMID 22236196 DOI: 10.1056/Nejmoa1102140  0.562
2012 Cirulli ET, Urban TJ, Marino SE, Linney KN, Birnbaum AK, Depondt C, Attix DK, Radtke RA, Goldstein DB. Genetic and environmental correlates of topiramate-induced cognitive impairment. Epilepsia. 53: e5-8. PMID 22091778 DOI: 10.1111/J.1528-1167.2011.03322.X  0.547
2011 Cirulli ET, Heinzen EL, Dietrich FS, Shianna KV, Singh A, Maia JM, Goedert JJ, Goldstein DB. A whole-genome analysis of premature termination codons. Genomics. 98: 337-42. PMID 21803148 DOI: 10.1016/J.Ygeno.2011.07.001  0.58
2011 Cirulli ET, Attix DK, Smith PJ, Chiba-Falek O, Pennuto TO, Linney KN, Goldstein DB. Contribution of pastimes and testing strategies to the performance of healthy volunteers on cognitive tests. The Clinical Neuropsychologist. 25: 778-98. PMID 21722049 DOI: 10.1080/13854046.2011.578587  0.473
2011 Ge D, Ruzzo EK, Shianna KV, He M, Pelak K, Heinzen EL, Need AC, Cirulli ET, Maia JM, Dickson SP, Zhu M, Singh A, Allen AS, Goldstein DB. SVA: software for annotating and visualizing sequenced human genomes. Bioinformatics (Oxford, England). 27: 1998-2000. PMID 21624899 DOI: 10.1093/Bioinformatics/Btr317  0.763
2011 Fellay J, Frahm N, Shianna KV, Cirulli ET, Casimiro DR, Robertson MN, Haynes BF, Geraghty DE, McElrath MJ, Goldstein DB. Host genetic determinants of T cell responses to the MRKAd5 HIV-1 gag/pol/nef vaccine in the step trial. The Journal of Infectious Diseases. 203: 773-9. PMID 21278214 DOI: 10.1093/Infdis/Jiq125  0.497
2011 Hitomi Y, Cirulli ET, Fellay J, McHutchison JG, Thompson AJ, Gumbs CE, Shianna KV, Urban TJ, Goldstein DB. Inosine triphosphate protects against ribavirin-induced adenosine triphosphate loss by adenylosuccinate synthase function Gastroenterology. 140: 1314-1321. PMID 21199653 DOI: 10.1053/J.Gastro.2010.12.038  0.493
2010 Pelak K, Shianna KV, Ge D, Maia JM, Zhu M, Smith JP, Cirulli ET, Fellay J, Dickson SP, Gumbs CE, Heinzen EL, Need AC, Ruzzo EK, Singh A, Campbell CR, et al. The characterization of twenty sequenced human genomes. Plos Genetics. 6: e1001111. PMID 20838461 DOI: 10.1371/Journal.Pgen.1001111  0.78
2010 Cirulli ET, Singh A, Shianna KV, Ge D, Smith JP, Maia JM, Heinzen EL, Goedert JJ, Goldstein DB. Screening the human exome: a comparison of whole genome and whole transcriptome sequencing. Genome Biology. 11: R57. PMID 20598109 DOI: 10.1186/Gb-2010-11-5-R57  0.596
2010 Sobreira NL, Cirulli ET, Avramopoulos D, Wohler E, Oswald GL, Stevens EL, Ge D, Shianna KV, Smith JP, Maia JM, Gumbs CE, Pevsner J, Thomas G, Valle D, Hoover-Fong JE, et al. Whole-genome sequencing of a single proband together with linkage analysis identifies a Mendelian disease gene. Plos Genetics. 6: e1000991. PMID 20577567 DOI: 10.1371/Journal.Pgen.1000991  0.648
2010 Cirulli ET, Goldstein DB. Uncovering the roles of rare variants in common disease through whole-genome sequencing. Nature Reviews. Genetics. 11: 415-25. PMID 20479773 DOI: 10.1038/Nrg2779  0.658
2010 Cirulli ET, Kasperaviciūte D, Attix DK, Need AC, Ge D, Gibson G, Goldstein DB. Common genetic variation and performance on standardized cognitive tests. European Journal of Human Genetics : Ejhg. 18: 815-20. PMID 20125193 DOI: 10.1038/Ejhg.2010.2  0.598
2010 Dennis NA, Need AC, LaBar KS, Waters-Metenier S, Cirulli ET, Kragel J, Goldstein DB, Cabeza R. COMT val108/158 met genotype affects neural but not cognitive processing in healthy individuals. Cerebral Cortex (New York, N.Y. : 1991). 20: 672-83. PMID 19641018 DOI: 10.1093/Cercor/Bhp132  0.487
2010 Cirulli ET, Kasperavičiūtė D, Attix DK, Need AC, Ge D, Gibson G, Goldstein DB. Erratum: Corrigendum to: Common genetic variation and performance on standardized cognitive tests European Journal of Human Genetics. 18: 820-820. DOI: 10.1038/Ejhg.2010.44  0.371
2009 Fellay J, Ge D, Shianna KV, Colombo S, Ledergerber B, Cirulli ET, Urban TJ, Zhang K, Gumbs CE, Smith JP, Castagna A, Cozzi-Lepri A, De Luca A, Easterbrook P, Günthard HF, et al. Common genetic variation and the control of HIV-1 in humans. Plos Genetics. 5: e1000791. PMID 20041166 DOI: 10.1371/Journal.Pgen.1000791  0.601
2009 Need AC, Attix DK, McEvoy JM, Cirulli ET, Linney KL, Hunt P, Ge D, Heinzen EL, Maia JM, Shianna KV, Weale ME, Cherkas LF, Clement G, Spector TD, Gibson G, et al. A genome-wide study of common SNPs and CNVs in cognitive performance in the CANTAB. Human Molecular Genetics. 18: 4650-61. PMID 19734545 DOI: 10.1093/Hmg/Ddp413  0.6
2009 Mazourek M, Cirulli ET, Collier SM, Landry LG, Kang BC, Quirin EA, Bradeen JM, Moffett P, Jahn MM. The fractionated orthology of Bs2 and Rx/Gpa2 supports shared synteny of disease resistance in the Solanaceae. Genetics. 182: 1351-64. PMID 19474202 DOI: 10.1534/Genetics.109.101022  0.404
2009 Need AC, Kasperaviciute D, Cirulli ET, Goldstein DB. 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. Genome Biology. 10: R7. PMID 19161619 DOI: 10.1186/Gb-2009-10-1-R7  0.571
2008 Need AC, Attix DK, McEvoy JM, Cirulli ET, Linney KN, Wagoner AP, Gumbs CE, Giegling I, Möller HJ, Francks C, Muglia P, Roses A, Gibson G, Weale ME, Rujescu D, et al. Failure to replicate effect of Kibra on human memory in two large cohorts of European origin. American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics. 147: 667-8. PMID 18205171 DOI: 10.1002/Ajmg.B.30658  0.48
2007 Cirulli ET, Goldstein DB. In vitro assays fail to predict in vivo effects of regulatory polymorphisms. Human Molecular Genetics. 16: 1931-9. PMID 17566082 DOI: 10.1093/Hmg/Ddm140  0.504
2007 Cirulli ET, Noor MA. Localization and characterization of X chromosome inversion breakpoints separating Drosophila mojavensis and Drosophila arizonae. The Journal of Heredity. 98: 111-4. PMID 17194790 DOI: 10.1093/Jhered/Esl065  0.581
2007 Cirulli ET, Kliman RM, Noor MA. Fine-scale crossover rate heterogeneity in Drosophila pseudoobscura. Journal of Molecular Evolution. 64: 129-35. PMID 17160365 DOI: 10.1007/S00239-006-0142-7  0.581
Show low-probability matches.