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Showing 1–50 of 81 results
Advanced filters: Author: Eric M. McLaughlin Clear advanced filters
  • Absorption lines of iron in the dayside atmosphere of an ultrahot giant exoplanet disappear after travelling across the nightside, showing that the iron has condensed during its travel.

    • David Ehrenreich
    • Christophe Lovis
    • Filippo Zerbi
    Research
    Nature
    Volume: 580, P: 597-601
  • Genomic analyses applied to 14 childhood- and adult-onset psychiatric disorders identifies five underlying genomic factors that explain the majority of the genetic variance of the individual disorders.

    • Andrew D. Grotzinger
    • Josefin Werme
    • Jordan W. Smoller
    ResearchOpen Access
    Nature
    Volume: 649, P: 406-415
  • Genome-wide analyses identify 30 independent loci associated with obsessive–compulsive disorder, highlighting genetic overlap with other psychiatric disorders and implicating putative effector genes and cell types contributing to its etiology.

    • Nora I. Strom
    • Zachary F. Gerring
    • Manuel Mattheisen
    ResearchOpen Access
    Nature Genetics
    Volume: 57, P: 1389-1401
  • Relatives of patients with amyotrophic lateral sclerosis have an unexpectedly high incidence of schizophrenia. Here, the authors show a genetic link between the two conditions, suggesting shared neurobiological mechanisms.

    • Russell L. McLaughlin
    • Dick Schijven
    • Michael C. O’Donovan
    ResearchOpen Access
    Nature Communications
    Volume: 8, P: 1-12
  • Observations of TOI-849b reveal a radius smaller than Neptune’s but a large mass of about 40 Earth masses, indicating that the planet is the remnant core of a gas giant.

    • David J. Armstrong
    • Théo A. Lopez
    • Zhuchang Zhan
    Research
    Nature
    Volume: 583, P: 39-42
  • A study of several longitudinal birth cohorts and cross-sectional cohorts finds only moderate overlap in genetic variants between autism that is diagnosed earlier and that diagnosed later, so they may represent aetiologically different conditions.

    • Xinhe Zhang
    • Jakob Grove
    • Varun Warrier
    ResearchOpen Access
    Nature
    Volume: 646, P: 1146-1155
  • Post-traumatic stress disorder (PTSD) is a common mental health problem. Here, the authors report a GWAS from the Psychiatric Genomics Consortium in which they identify two risk loci in European ancestry and one locus in African ancestry individuals and find that PTSD is genetically correlated with several other psychiatric traits.

    • Caroline M. Nievergelt
    • Adam X. Maihofer
    • Karestan C. Koenen
    ResearchOpen Access
    Nature Communications
    Volume: 10, P: 1-16
  • Genetic variants at multiple loci of chr5p15.33 have been associated with susceptibility to numerous cancers. Here the authors show that the association of one of these loci may be explained by a variant, rs36115365, influencing telomerase reverse transcriptase (TERT) expression via ZNF148.

    • Jun Fang
    • Jinping Jia
    • Laufey T. Amundadottir
    ResearchOpen Access
    Nature Communications
    Volume: 8, P: 1-17
  • Medulloblastoma is the most common malignant brain tumour in children; having assembled over 1,000 samples the authors report that somatic copy number aberrations are common in medulloblastoma, in particular a tandem duplication of SNCAIP, a gene associated with Parkinson’s disease, which is restricted to subgroup 4α, and translocations of PVT1, which are restricted to Group 3.

    • Paul A. Northcott
    • David J. H. Shih
    • Michael D. Taylor
    ResearchOpen Access
    Nature
    Volume: 488, P: 49-56
  • Deep profiling of transcriptomes, metabolomes, cytokines, and proteomes, alongside changes in the microbiome, in samples from individuals with and without prediabetes reveal insights into inter-individual variability and associations between changes in the microbiome and other factors.

    • Wenyu Zhou
    • M. Reza Sailani
    • Michael Snyder
    ResearchOpen Access
    Nature
    Volume: 569, P: 663-671
  • The goal of the 1000 Genomes Project is to provide in-depth information on variation in human genome sequences. In the pilot phase reported here, different strategies for genome-wide sequencing, using high-throughput sequencing platforms, were developed and compared. The resulting data set includes more than 95% of the currently accessible variants found in any individual, and can be used to inform association and functional studies.

    • Richard M. Durbin
    • David Altshuler (Co-Chair)
    • Gil A. McVean
    ResearchOpen Access
    Nature
    Volume: 467, P: 1061-1073
  • The chromosome 15q25.1 locus is a leading susceptibility region for lung cancer. Here, the authors interrogate three GWAS cohorts with 42,901 individuals to investigate potential pathological pathways such as gated channel activity and neuroactive ligand receptor interaction in lung cancer etiology.

    • Xuemei Ji
    • Yohan Bossé
    • Christopher I. Amos
    ResearchOpen Access
    Nature Communications
    Volume: 9, P: 1-15
  • An analysis of transits of planets over starspots on the Sun-like star Kepler-30 shows that the orbits of the three planets are aligned with the stellar equator; this configuration is similar to that of our Solar System, and suggests that high obliquities are confined to systems that experienced disruptive dynamical interactions.

    • Roberto Sanchis-Ojeda
    • Daniel C. Fabrycky
    • Susan E. Thompson
    Research
    Nature
    Volume: 487, P: 449-453
  • Christopher Amos and colleagues perform genome-wide association analysis for lung cancer using cohorts genotyped on the OncoArray and combing these with existing data. They identify 18 loci, 10 of which are new, finding heterogeneity across the different lung cancer subtypes, and explore candidate genes through eQTL analysis in lung tissue.

    • James D McKay
    • Rayjean J Hung
    • Christopher I Amos
    Research
    Nature Genetics
    Volume: 49, P: 1126-1132
  • In lung cancer, relatively few germline mutations are known to impact risk. Here the authors looked at rare variants in 39,146 individuals and find novel germline mutations associated with risk, as well as implicating ATM and a new candidate gene for lung cancer risk.

    • Xuemei Ji
    • Semanti Mukherjee
    • Christopher I. Amos
    ResearchOpen Access
    Nature Communications
    Volume: 11, P: 1-14
  • Paul Pharoah and colleagues report the results of a large genome-wide association study of ovarian cancer. They identify new susceptibility loci for different epithelial ovarian cancer histotypes and use integrated analyses of genes and regulatory features at each locus to predict candidate susceptibility genes, including OBFC1.

    • Catherine M Phelan
    • Karoline B Kuchenbaecker
    • Paul D P Pharoah
    Research
    Nature Genetics
    Volume: 49, P: 680-691
  • To address the question of whether a recurrent tumour is genetically similar to the tumour at diagnosis, the evolution of medulloblastoma has been studied in both an in vivo mouse model of clinical tumour therapy as well as in humans with recurrent disease; targeted tumour therapies are usually based on targets present in the tumour at diagnosis but the results from this study indicate that post-treatment recurring tumours (compared with the tumour at diagnosis) have undergone substantial clonal divergence of the initial dominant tumour clone.

    • A. Sorana Morrissy
    • Livia Garzia
    • Michael D. Taylor
    Research
    Nature
    Volume: 529, P: 351-357
  • Subarcsecond localization of the repeating fast radio burst FRB 121102 shows that its source is co-located with a faint galaxy with a low-luminosity active galactic nucleus, or a previously unknown type of extragalactic source.

    • S. Chatterjee
    • C. J. Law
    • H. J. van Langevelde
    Research
    Nature
    Volume: 541, P: 58-61
  • Genome-wide analysis of tandem DNA repeats in the genomes of individuals with autism spectrum disorder and control participants reveals a strong contribution of tandem repeat expansions to the genetic aetiology and phenotypic complexity of autism spectrum disorder.

    • Brett Trost
    • Worrawat Engchuan
    • Ryan K. C. Yuen
    Research
    Nature
    Volume: 586, P: 80-86
  • Stabilization of RNAs for storage, transport and biological application remains a profound challenge. Now, it has been shown that reversible 2′-OH acylation with easily accessible acylimidazoles unlocks efficient protection of RNA. RNA can be deprotected by non-basic nucleophiles or spontaneously in cells to restore RNA functions.

    • Linglan Fang
    • Lu Xiao
    • Eric T. Kool
    Research
    Nature Chemistry
    Volume: 15, P: 1296-1305
  • Now a reactivity-based RNA profiling strategy can measure the global off-target transcriptome interactions of small-molecule drugs at single-nucleotide resolution. Using this approach, three FDA-approved drugs were evaluated, uncovering pervasive drug–RNA interactions and interactions that perturb RNA functions in cells.

    • Linglan Fang
    • Willem A. Velema
    • Eric T. Kool
    Research
    Nature Chemistry
    Volume: 15, P: 1374-1383
  • The Pharma Proteomics Project generates the largest open-access plasma proteomics dataset to date, offering insights into trans protein quantitative trait loci across multiple biological domains, and highlighting genetic influences on ligand–receptor interactions and pathway perturbations across a diverse collection of cytokines and complement networks.

    • Benjamin B. Sun
    • Joshua Chiou
    • Christopher D. Whelan
    ResearchOpen Access
    Nature
    Volume: 622, P: 329-338
  • Tobacco smoke contains more than sixty carcinogens that bind and mutate DNA. Here, massively parallel sequencing technology is used to sequence a small-cell lung cancer cell line, exploring the mutational burden associated with tobacco smoking. Multiple mutation signatures from the cocktail of carcinogens in tobacco smoke are found, as well as evidence of transcription-coupled repair and another, more general, expression-linked repair pathway.

    • Erin D. Pleasance
    • Philip J. Stephens
    • Peter J. Campbell
    ResearchOpen Access
    Nature
    Volume: 463, P: 184-190
  • Friedhelm Hildebrandt and colleagues combine homozygosity mapping with candidate exome capture and high-throughput sequencing to identify SDCCAG8 mutations as the cause of a retinal-renal ciliopathy. They further show that SDCCAG8 localizes to centrioles and that its depletion causes renal cysts and cell polarity defects.

    • Edgar A Otto
    • Toby W Hurd
    • Friedhelm Hildebrandt
    Research
    Nature Genetics
    Volume: 42, P: 840-850
  • The emergence of synthetic fluorescent nucleobases that can be incorporated into DNA and RNA in place of their natural counterparts has enabled new tools and technologies with applications in chemistry, biology and biomedicine. This Review discusses chemical insights into canonical and non-canonical nucleobase designs, relating structure to properties.

    • Wang Xu
    • Ke Min Chan
    • Eric T. Kool
    Reviews
    Nature Chemistry
    Volume: 9, P: 1043-1055
  • The CNV analysis group of the Psychiatric Genomic Consortium analyzes a large schizophrenia cohort to examine genomic copy number variants (CNVs) and disease risk. They find an enrichment of CNV burden in cases versus controls and identify 8 genome-wide significant loci as well as novel suggestive loci conferring either risk or protection to schizophrenia.

    • Christian R Marshall
    • Daniel P Howrigan
    • Jonathan Sebat
    Research
    Nature Genetics
    Volume: 49, P: 27-35
  • Genetic associations with particular patterns of brain folding may provide insight into brain development and function. Here, the authors identify and replicate 388 genetic associations with brain sulcal morphology across 40,169 UK Biobank MRI scans, revealing insights into the processes guiding cortical development and genetic correlations with neuropsychiatric phenotypes.

    • Benjamin B. Sun
    • Stephanie J. Loomis
    • Christopher D. Whelan
    ResearchOpen Access
    Nature Communications
    Volume: 13, P: 1-13
  • Here, the authors provide an exome study of hand grip strength, a proxy of generalized muscle strength. They identify six exome-wide significant genes, with links to disease, and additivity of rare and common genetic variant effects on muscle strength.

    • Yunfeng Huang
    • Dora Bodnar
    • Heiko Runz
    ResearchOpen Access
    Nature Communications
    Volume: 14, P: 1-8
  • A reference genome sequence for threespine sticklebacks, and re-sequencing of 20 additional world-wide populations, reveals loci used repeatedly during vertebrate evolution; multiple chromosome inversions contribute to marine-freshwater divergence, and regulatory variants predominate over coding variants in this classic example of adaptive evolution in natural environments.

    • Felicity C. Jones
    • Manfred G. Grabherr
    • David M. Kingsley
    ResearchOpen Access
    Nature
    Volume: 484, P: 55-61
  • Single cell data provides cellular resolution on gene expression, but is rarely mined for isoforms. Analysis of 3' isoforms across ~250 Drosophila cell types reveals the cellular bases for numerous tissue-specific 3' programs, identifies new 3' programs, and nominates candidate trans-acting factors

    • Seungjae Lee
    • Yen-Chung Chen
    • Eric C. Lai
    ResearchOpen Access
    Nature Communications
    Volume: 13, P: 1-16