Nature Search

A New Method for Dating Ancient Glass

ROBERT H. BRILL
HARRISON P. HOOD
Research07 Jan 1961
Nature

Volume: 189, P: 12-14
Milestone in predicting core plasma turbulence: successful multi-channel validation of the gyrokinetic code GENE

Plasma turbulence is the main driver to deteriorate the performance of fusion power plants. This work presents an unprecedented comparison of plasma turbulence between experiment and simulation, proving that the gyrokinetic model GENE reached a high level of maturity to predict core turbulence.

Klara Höfler
Tobias Görler
S. Zoletnik
ResearchOpen Access15 Mar 2025
Nature Communications

Volume: 16, P: 1-11
Determination of complex structures by combined neutron and synchrotron X-ray powder diffraction

Russell E. Morris
William T. A. Harrison
Anthony K. Cheetham
Research08 Oct 1992
Nature

Volume: 359, P: 519-522
Effect of energetic ions on edge-localized modes in tokamak plasmas

Edge-localized plasma modes in a tokamak can damage its innermost wall. Simulations now show that fast ions can modify the spatio-temporal structure of these modes. These effects need to be considered in the optimization of control techniques.

J. Dominguez-Palacios
S. Futatani
M. Zuin
ResearchOpen Access06 Jan 2025
Nature Physics

Volume: 21, P: 43-51
A cell type-aware framework for nominating non-coding variants in Mendelian regulatory disorders

Here, the authors present a multi-omic framework using single cell technology to identify non-coding genetic variants in cranial motor neuron disorders, offering insights into their genetic basis and methods for studying other Mendelian diseases.

Arthur S. Lee
Lauren J. Ayers
Elizabeth C. Engle
ResearchOpen Access27 Sept 2024
Nature Communications

Volume: 15, P: 1-26
A structural variation reference for medical and population genetics

A large empirical assessment of sequence-resolved structural variants from 14,891 genomes across diverse global populations in the Genome Aggregation Database (gnomAD) provides a reference map for disease-association studies, population genetics, and diagnostic screening.

Ryan L. Collins
Harrison Brand
Michael E. Talkowski
ResearchOpen Access27 May 2020
Nature

Volume: 581, P: 444-451
SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome

Michael Talkowski, David FitzPatrick, Erica Davis and colleagues report rare inherited or de novo missense variants in SMCHD1 in arhinia patients. Some of the same mutations in SMCHD1 are known to cause a phenotypically distinct muscular dystrophy disorder, FSHD2, and the distinct clinical features of the two disorders suggests that additional genes interact with SMCHD1 to cause arhinia.

Natalie D Shaw
Harrison Brand
Michael E Talkowski
Research09 Jan 2017
Nature Genetics

Volume: 49, P: 238-248
Rare coding variation provides insight into the genetic architecture and phenotypic context of autism

Analysis of rare protein-truncating, damaging missense and copy number variants from exome sequencing of 63,237 individuals identifies 72 genes associated with autism spectrum disorder.

Jack M. Fu
F. Kyle Satterstrom
Michael E. Talkowski
Research18 Aug 2022
Nature Genetics

Volume: 54, P: 1320-1331
SARS-CoV-2 Omicron is an immune escape variant with an altered cell entry pathway

The Omicron variant evades vaccine-induced neutralization but also fails to form syncytia, shows reduced replication in human lung cells and preferentially uses a TMPRSS2-independent cell entry pathway, which may contribute to enhanced replication in cells of the upper airway. Altered fusion and cell entry characteristics are linked to distinct regions of the Omicron spike protein.

Brian J. Willett
Joe Grove
Emma C. Thomson
ResearchOpen Access07 Jul 2022
Nature Microbiology

Volume: 7, P: 1161-1179
Transcriptomic mapping uncovers Purkinje neuron plasticity driving learning

Subpopulations of Purkinje neurons display distinct transcriptomic responses and functions in associative learning.

Xiaoying Chen
Yanhua Du
Azad Bonni
Research11 May 2022
Nature

Volume: 605, P: 722-727
Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes

In this largest whole-exome sequencing study of epilepsies to date, the Epi25 Collaborative identified extremely rare variants that confer risk for diverse epilepsy subtypes, highlighting roles in synaptic transmission and neuronal excitability.

Siwei Chen
Bassel W. Abou-Khalil
Samuel F. Berkovic
Research03 Oct 2024
Nature Neuroscience

Volume: 27, P: 1864-1879
Observation of magnetic islands in tokamak plasmas during the suppression of edge-localized modes

The suppression of edge-localized modes in tokamak plasmas is crucial to prevent them from damaging the walls of the chamber. Now experiments confirm the role that magnetic islands play in suppressing these detrimental modes.

Matthias Willensdorfer
Verena Mitterauer
S. Zoletnik
ResearchOpen Access28 Oct 2024
Nature Physics

Volume: 20, P: 1980-1988
Author Correction: GATK-gCNV enables the discovery of rare copy number variants from exome sequencing data

Mehrtash Babadi
Jack M. Fu
Michael E. Talkowski
Amendments and Corrections23 Jan 2024
Nature Genetics

Volume: 56, P: 553
A deeper understanding of VEGFR inhibitors

An analysis of the structual binding and potency of vascular endothelial growth factor receptor (VEGFR) inhibitors indicates that the inclusion of interactions with the juxtamemebrane domain better reflects the efficacy of these drugs in renal cell carcinoma.

Charlotte Harrison
Research Highlights23 Oct 2012
Nature Reviews Cancer

Volume: 12, P: 735
Correction: Corrigendum: SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome

Natalie D Shaw
Harrison Brand
Michael E Talkowski
Amendments and Corrections26 May 2017
Nature Genetics

Volume: 49, P: 969
The mutational constraint spectrum quantified from variation in 141,456 humans

A catalogue of predicted loss-of-function variants in 125,748 whole-exome and 15,708 whole-genome sequencing datasets from the Genome Aggregation Database (gnomAD) reveals the spectrum of mutational constraints that affect these human protein-coding genes.

Konrad J. Karczewski
Laurent C. Francioli
Daniel G. MacArthur
ResearchOpen Access27 May 2020
Nature

Volume: 581, P: 434-443
Phase Ib dose-escalation study of the hypoxia-modifier Myo-inositol trispyrophosphate in patients with hepatopancreatobiliary tumors

Restoring oxygenation in hypoxic tumors might lead to favorable oncological outcome of patients if combined with standard multimodal therapy regimens. Here the authors report a phase Ib clinical trial of anti-hypoxic myo-inositol trispyrophosphate (ITPP) in hepato-pancreato-biliary neoplasms.

Marcel A. Schneider
Michael Linecker
Perparim Limani
ResearchOpen Access21 Jun 2021
Nature Communications

Volume: 12, P: 1-12
The Diffusion of Culture

H. S. HARRISON
Books & Arts18 Nov 1933
Nature

Volume: 132, P: 763-765
A genomic mutational constraint map using variation in 76,156 human genomes

A genomic constraint map for the human genome constructed using data from 76,156 human genomes from the Genome Aggregation Database shows that non-coding constrained regions are enriched for regulatory elements and variants associated with complex diseases and traits.

Siwei Chen
Laurent C. Francioli
Konrad J. Karczewski
Research06 Dec 2023
Nature

Volume: 625, P: 92-100
NIH denies march-in rights on Norvir patent

Charlotte Harrison
News29 Nov 2013
Nature Reviews Drug Discovery

Volume: 12, P: 898
A deeper understanding of VEGFR inhibitors

Charlotte Harrison
Research Highlights12 Oct 2012
Nature Reviews Drug Discovery

Volume: 11, P: 831
Functional annotation of rare structural variation in the human brain

Structural variants (SVs) contribute to the genetic architecture of many brain-related disorders. Here, the authors integrate SV calls from genome sequencing (n = 755) with RNA-seq data (n = 629) from post-mortem dorsal lateral prefrontal cortex to annotate the gene regulatory effects of SVs in the human brain and their potential to contribute to disease.

Lide Han
Xuefang Zhao
Douglas M. Ruderfer
ResearchOpen Access12 Jun 2020
Nature Communications

Volume: 11, P: 1-13
Multi-platform discovery of haplotype-resolved structural variation in human genomes

Structural variants (SVs) in human genomes contribute diversity and diseases. Here, the authors use a multi-platform strategy to generate haplotype-resolved SVs for three human parent–child trios.

Mark J. P. Chaisson
Ashley D. Sanders
Charles Lee
ResearchOpen Access16 Apr 2019
Nature Communications

Volume: 10, P: 1-16
The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies

Michael Talkowski and colleagues analyze balanced chromosomal abnormalities in 273 individuals by whole-genome sequencing. Their findings suggest that sequence-level resolution improves prediction of clinical outcomes for balanced rearrangements and provides insight into pathogenic mechanisms such as altered gene regulation due to changes in chromosome topology.

Claire Redin
Harrison Brand
Michael E Talkowski
Research14 Nov 2016
Nature Genetics

Volume: 49, P: 36-45
Loss of δ-catenin function in severe autism

In severe autism, deleterious variants at conserved residues are enriched in patients arising from female-enriched multiplex families, enhancing the detection of key autism genes in modest numbers of cases.

Tychele N. Turner
Kamal Sharma
Aravinda Chakravarti
Research25 Mar 2015
Nature

Volume: 520, P: 51-56
Patent watch

Charlotte Harrison
News29 Jun 2012
Nature Reviews Drug Discovery

Volume: 11, P: 510-511
Ten novel 11q23 chromosomal partner sites

CJ Harrison
A Cuneo
LM Secker-Walker
News29 May 1998
Leukemia

Volume: 12, P: 811-822
Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death

In a new study including 200 families who experienced perinatal death, adding genomic analyses to standard autopsies improved the identification of underlying pathogenic causes and informed genetic counseling.

Alicia B. Byrne
Peer Arts
Hamish S. Scott
ResearchOpen Access19 Jan 2023
Nature Medicine

Volume: 29, P: 180-189
GATK-gCNV enables the discovery of rare copy number variants from exome sequencing data

GATK-gCNV uses a probabilistic model and inference framework to discover rare copy number variants (CNVs) from sequencing read-depth information. This algorithm is used to generate a reference catalog of rare coding CNVs in exome sequencing data from UK Biobank.

Mehrtash Babadi
Jack M. Fu
Michael E. Talkowski
Research21 Aug 2023
Nature Genetics

Volume: 55, P: 1589-1597
An analytical framework for whole-genome sequence association studies and its implications for autism spectrum disorder

This study presents a framework to evaluate rare and de novo variation from whole-genome sequencing (WGS). The work suggests that robust results from WGS studies will require large cohorts and strategies that consider the substantial multiple-testing burden.

Donna M. Werling
Harrison Brand
Stephan J. Sanders
Research26 Apr 2018
Nature Genetics

Volume: 50, P: 727-736
Author Correction: A structural variation reference for medical and population genetics

Ryan L. Collins
Harrison Brand
Michael E. Talkowski
Amendments and CorrectionsOpen Access03 Feb 2021
Nature

Volume: 590, P: E55
Author Correction: The mutational constraint spectrum quantified from variation in 141,456 humans

Konrad J. Karczewski
Laurent C. Francioli
Daniel G. MacArthur
Amendments and CorrectionsOpen Access03 Feb 2021
Nature

Volume: 590, P: E53
Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls

Copy number variants (CNVs) account for a major proportion of human genetic diversity and may contribute to genetic susceptibility to disease. Here, a large, genome-wide study of association between common CNVs and eight common human diseases is presented. The study provides a wealth of technical insights that will inform future study design and analysis. The results also indicate that common CNVs that can be 'typed' on existing platforms are unlikely to contribute much to the genetic basis of common diseases.

Nick Craddock
Matthew E. Hurles
Peter Donnelly
Research01 Apr 2010
Nature

Volume: 464, P: 713-720
Patent watch

Charlotte Harrison
News01 Mar 2012
Nature Reviews Drug Discovery

Volume: 11, P: 180-181
Nonlinear excitation of energetic particle driven geodesic acoustic mode by resonance overlap with Alfvén instability in ASDEX Upgrade

Hao Wang
Philipp Lauber
S. Zoletnik
ResearchOpen Access07 Jan 2025
Scientific Reports

Volume: 15, P: 1-11
A 'best of' climate compilation

Pierre Friedlingstein
Books & Arts28 Jun 2012
Nature Geoscience

Volume: 5, P: 440
Evidence for secondary-variant genetic burden and non-random distribution across biological modules in a recessive ciliopathy

Analysis of two independent cohorts of patients with Bardet–Biedl syndrome (BBS) with known recessive biallelic pathogenic mutations in one of 17 BBS genes shows an enrichment of rare nonsynonymous secondary variants in the same gene set, with significant over-representation of secondary alleles in chaperonin-encoding genes.

Maria Kousi
Onuralp Söylemez
Nicholas Katsanis
Research12 Oct 2020
Nature Genetics

Volume: 52, P: 1145-1150
Mobile devices and wearable technology for measuring patient outcomes after surgery: a systematic review

Stephen R. Knight
Nathan Ng
Ewen M. Harrison
ResearchOpen Access12 Nov 2021
npj Digital Medicine

Volume: 4, P: 1-14
The pathobiology of human fungal infections

In this Review, Brown et al. provide an overview of fungal pathobiology from the pathogen, host and clinical perspectives, focusing specifically on pathogens that can cause invasive life-threatening infections.

Gordon D. Brown
Elizabeth R. Ballou
Duncan Wilson
Reviews25 Jun 2024
Nature Reviews Microbiology

Volume: 22, P: 687-704
Humoral immune responses to COVID-19 vaccination in people living with HIV receiving suppressive antiretroviral therapy

Zabrina L. Brumme
Francis Mwimanzi
Mark A. Brockman
ResearchOpen Access28 Feb 2022
npj Vaccines

Volume: 7, P: 1-12
Potential pitfalls in the use of real-world data for studying long COVID

Harrison G. Zhang
Jacqueline P. Honerlaw
Gabriel A. Brat
Correspondence13 Apr 2023
Nature Medicine

Volume: 29, P: 1040-1043
Mutations in DCHS1 cause mitral valve prolapse

Two mutations in the gene DCHS1 are shown to cause non-syndromic mitral valve prolapse (MVP), a common cardiac valve disease; understanding the role of DCHS1 in mitral valve development and MVP pathogenesis holds therapeutic potential.

Ronen Durst
Kimberly Sauls
Susan A. Slaugenhaupt
Research10 Aug 2015
Nature

Volume: 525, P: 109-113
Author Correction: A genomic mutational constraint map using variation in 76,156 human genomes

Siwei Chen
Laurent C. Francioli
Konrad J. Karczewski
Amendments and Corrections15 Jan 2024
Nature

Volume: 626, P: E1
Glycoside hydrolase processing of the Pel polysaccharide alters biofilm biomechanics and Pseudomonas aeruginosa virulence

Erum Razvi
Gregory B. Whitfield
P. Lynne Howell
ResearchOpen Access02 Feb 2023
npj Biofilms and Microbiomes

Volume: 9, P: 1-14
Addendum: The mutational constraint spectrum quantified from variation in 141,456 humans

Sanna Gudmundsson
Konrad J. Karczewski
Daniel G. MacArthur
Amendments and CorrectionsOpen Access09 Aug 2021
Nature

Volume: 597, P: E3-E4
A neurodevelopmental disorder caused by a novel de novo SVA insertion in exon 13 of the SRCAP gene

Boxun Zhao
Jill A. Madden
Pankaj B. Agrawal
Research30 Jun 2022
European Journal of Human Genetics

Volume: 30, P: 1083-1087
Author Correction: Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death

Alicia B. Byrne
Peer Arts
Hamish S. Scott
Amendments and Corrections10 Jul 2023
Nature Medicine

Volume: 30, P: 302
International comparisons of laboratory values from the 4CE collaborative to predict COVID-19 mortality

Griffin M. Weber
Chuan Hong
Gabriel A. Brat
ResearchOpen Access13 Jun 2022
npj Digital Medicine

Volume: 5, P: 1-8
Multinational characterization of neurological phenotypes in patients hospitalized with COVID-19

Trang T. Le
Alba Gutiérrez-Sacristán
Zongqi Xia
ResearchOpen Access12 Oct 2021
Scientific Reports

Volume: 11, P: 1-13
Comparative performances of machine learning methods for classifying Crohn Disease patients using genome-wide genotyping data

Alberto Romagnoni
Simon Jégou
Pamela Whittaker
ResearchOpen Access17 Jul 2019
Scientific Reports

Volume: 9, P: 1-18

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