Nature Search

Analysis of rare genetic variation underlying cardiometabolic diseases and traits among 200,000 individuals in the UK Biobank

Analysis of whole-exome sequencing data from over 200,000 individuals in the UK Biobank provides new insights into the contribution of rare variants to cardiometabolic diseases and traits.

Sean J. Jurgens
Seung Hoan Choi
Patrick T. Ellinor
Research17 Feb 2022
Nature Genetics

Volume: 54, P: 240-250
Genomic mechanisms of climate adaptation in polyploid bioenergy switchgrass

The genome of the biofuel crop switchgrass (Panicum virgatum) reveals climate–gene–biomass associations that underlie adaptation in nature and will facilitate improvements of the yield of this crop for bioenergy production.

John T. Lovell
Alice H. MacQueen
Jeremy Schmutz
ResearchOpen Access27 Jan 2021
Nature

Volume: 590, P: 438-444
Genetic risk factors for COVID-19 and influenza are largely distinct

Genome-wide analyses identify variants in B3GALT5 and ST6GAL1 associated with influenza susceptibility. Knockdown of ST6GAL1 in cell culture reduces influenza infectivity, likely by interfering with the glycoprotein modifications required for viral entry.

Jack A. Kosmicki
Anthony Marcketta
Manuel A. R. Ferreira
ResearchOpen Access05 Aug 2024
Nature Genetics

Volume: 56, P: 1592-1596
Rare coding variants in CHRNB2 reduce the likelihood of smoking

An exome-wide association study of six smoking phenotypes in up to 749,459 individuals identifies associations of rare coding variants in CHRNB2 that may reduce the likelihood of smoking.

Veera M. Rajagopal
Kyoko Watanabe
Giovanni Coppola
ResearchOpen Access12 Jun 2023
Nature Genetics

Volume: 55, P: 1138-1148
Author Correction: Genome-wide association study of alcohol consumption and use disorder in 274,424 individuals from multiple populations

Henry R. Kranzler
Hang Zhou
Joel Gelernter
Amendments and CorrectionsOpen Access03 Sept 2019
Nature Communications

Volume: 10, P: 1-3
Genomic landscape of cutaneous T cell lymphoma

Richard Lifton and colleagues report a genomic analysis of cutaneous T cell lymphoma (CTCL). Their results implicate several pathways in CTCL pathogenesis, including genes involved in T cell activation and apoptosis, NF-κB signaling, chromatin remodeling and DNA damage response.

Jaehyuk Choi
Gerald Goh
Richard P Lifton
Research20 Jul 2015
Nature Genetics

Volume: 47, P: 1011-1019
Author Correction: Genotyping, sequencing and analysis of 140,000 adults from Mexico City

Andrey Ziyatdinov
Jason Torres
Roberto Tapia-Conyer
Amendments and CorrectionsOpen Access08 Feb 2024
Nature

Volume: 626, P: E18
A novel TUFM homozygous variant in a child with mitochondrial cardiomyopathy expands the phenotype of combined oxidative phosphorylation deficiency 4

Tova Hershkovitz
Alina Kurolap
Hagit Baris Feldman
Research22 Mar 2019
Journal of Human Genetics

Volume: 64, P: 589-595
High heritability of ascending aortic diameter and trans-ancestry prediction of thoracic aortic disease

Trans-ancestry genome-wide analyses identify multiple loci associated with ascending aortic diameter. A polygenic score constructed from these loci predicted prevalent risk of thoracic aortic aneurysm in independent populations.

Catherine Tcheandjieu
Ke Xiao
James R. Priest
Research30 May 2022
Nature Genetics

Volume: 54, P: 772-782
Genome-wide association analyses highlight etiological differences underlying newly defined subtypes of diabetes

Genome-wide association and genetic risk score analyses highlight differences in genetic architecture across five subtypes of diabetes.

Dina Mansour Aly
Om Prakash Dwivedi
Emma Ahlqvist
Research04 Nov 2021
Nature Genetics

Volume: 53, P: 1534-1542
De novo mutations revealed by whole-exome sequencing are strongly associated with autism

Rare de novo single nucleotide variants in brain-expressed genes are found to be associated with autism spectrum disorders and to carry large effects.

Stephan J. Sanders
Michael T. Murtha
Matthew W. State
Research04 Apr 2012
Nature

Volume: 485, P: 237-241
Recessive mutations in DGKE cause atypical hemolytic-uremic syndrome

Richard Lifton, Véronique Frémeaux-Bacchi and colleagues report that recessive mutations in DGKE cause atypical hemolytic-uremic syndrome with an early age of onset progressing to chronic kidney disease. The authors propose that loss of DGKE results in a prothrombotic state that underlies disease pathogenesis.

Mathieu Lemaire
Véronique Frémeaux-Bacchi
Richard P Lifton
Research31 Mar 2013
Nature Genetics

Volume: 45, P: 531-536
De novo mutations in histone-modifying genes in congenital heart disease

Exome sequencing of patients with congenital heart disease (CHD) and their unaffected parents reveals an excess of strong-effect, protein-altering de novo mutations in genes expressed in the developing heart, many of which regulate chromatin modification in key developmental genes; collectively, these mutations are predicted to account for approximately 10% of severe CHD cases.

Samir Zaidi
Murim Choi
Richard P. Lifton
Research12 May 2013
Nature

Volume: 498, P: 220-223
A large-scale genome-wide study of gene-sleep duration interactions for blood pressure in 811,405 individuals from diverse populations

Pavithra Nagarajan
Thomas W. Winkler
Heming Wang
Research04 Apr 2025
Molecular Psychiatry

Volume: 30, P: 3660-3672
MEPE loss-of-function variant associates with decreased bone mineral density and increased fracture risk

Bone mineral density (BMD) is associated with fracture risk and many genetic loci with small effect sizes have been discovered by genome-wide association studies (GWAS). Here, the authors discover a large-effect rare loss-of-function genetic variant for BMD in the MEPE gene in the Norwegian HUNT study which replicates in the UK Biobank.

Ida Surakka
Lars G. Fritsche
Cristen J. Willer
ResearchOpen Access23 Oct 2020
Nature Communications

Volume: 11, P: 1-8
Sequence and comparative analysis of the chicken genome provide unique perspectives on vertebrate evolution

LaDeana W. Hillier
Webb Miller
Richard K. Wilson
Research09 Dec 2004
Nature

Volume: 432, P: 695-716
A genetic variation map for chicken with 2.8 million single-nucleotide polymorphisms

Gane Ka-Shu Wong
Bin Liu
HuanMing Yang
Research09 Dec 2004
Nature

Volume: 432, P: 717-722
Somatic and germline CACNA1D calcium channel mutations in aldosterone-producing adenomas and primary aldosteronism

Richard Lifton and colleagues identify somatic and germline mutations in the CACNA1D calcium channel gene in aldosterone-producing adenomas and primary aldosteronism. Their functional studies show that these mutations result in channel activation at more hyperpolarized membrane potentials, implicating increased Ca²⁺ influx in disease pathogenesis.

Ute I Scholl
Gerald Goh
Richard P Lifton
Research04 Aug 2013
Nature Genetics

Volume: 45, P: 1050-1054
Novel Plasmodium antigens identified via genome-based antibody screen induce protection associated with polyfunctional T cell responses

Sophie Schussek
Angela Trieu
Denise L. Doolan
ResearchOpen Access08 Nov 2017
Scientific Reports

Volume: 7, P: 1-18
Exome-wide evaluation of rare coding variants using electronic health records identifies new gene–phenotype associations

Analysis of 10,900 whole-exome sequences linked to electronic health care records in the Penn Medicine Biobank enabled an exome-wide study of the phenotypic effects of rare loss-of-function gene variants, identifying new gene–disease associations that replicated across other biobanks.

Joseph Park
Anastasia M. Lucas
Daniel J. Rader
Research11 Jan 2021
Nature Medicine

Volume: 27, P: 66-72
Mutation of NLRC4 causes a syndrome of enterocolitis and autoinflammation

Richard Lifton, Barbara Kazmierczak and colleagues report the identification of a new enterocolitic and autoinflammatory syndrome, which they find is caused by de novo gain-of-function mutations affecting the inflammasome protein NLRC4. Cells with mutant NLRC4 produce elevated levels of cleaved caspase-1, which leads to cell death by pyroptosis.

Neil Romberg
Khatoun Al Moussawi
Richard P Lifton
Research14 Sept 2014
Nature Genetics

Volume: 46, P: 1135-1139
What can molecular pathology contribute to the management of renal cell carcinoma?

Although renal cell carcinoma (RCC) is increasing in incidence and is associated with a poor outcome, there is no molecular test to identify which patients will relapse and who will respond to targeted therapies. In this Review, the authors discuss the biochemical, histological and genetic characteristics of RCC, and why these characteristics have not been translated into a useful prognostic and predictive test for patients with kidney cancer.

Grant D. Stewart
Fiach C. O'Mahony
Dana Faratian
Reviews12 Apr 2011
Nature Reviews Urology

Volume: 8, P: 255-265
Drug and pesticide usage for sea lice treatment in salmon aquaculture sites in a Canadian province from 2016 to 2019

Dounia Hamoutene
Vanessa Oldford
Sebastien Donnet
ResearchOpen Access16 Mar 2022
Scientific Reports

Volume: 12, P: 1-15
Advancing human genetics research and drug discovery through exome sequencing of the UK Biobank

The UK Biobank Exome Sequencing Consortium aims to sequence all the exomes of approximately 500,000 UK Biobank participants. This Perspective describes the results from approximately 200,000 exomes and discusses the lessons learned from this UK Biobank–biopharmaceutical company collaboration.

Joseph D. Szustakowski
Suganthi Balasubramanian
Zhan Ye
Reviews28 Jun 2021
Nature Genetics

Volume: 53, P: 942-948
Gene-level analysis of rare variants in 379,066 whole exome sequences identifies an association of GIGYF1 loss of function with type 2 diabetes

Aimee M. Deaton
Margaret M. Parker
Paul Nioi
ResearchOpen Access03 Nov 2021
Scientific Reports

Volume: 11, P: 1-16
Risk of lymphoid malignancy associated with cancer predisposition genes

Nicholas J. Boddicker
Raphael Mwangi
James R. Cerhan
ResearchOpen Access19 Apr 2025
Blood Cancer Journal

Volume: 15, P: 1-9
Population-scale analysis of common and rare genetic variation associated with hearing loss in adults

A GWAS and exome-wide association study meta-analysis identifies 53 loci affecting hearing loss risk from over half a million individuals across five cohorts. Rare variants in Mendelian hearing loss genes contribute to hearing loss risk in adults.

Kavita Praveen
Lee Dobbyn
Giovanni Coppola
ResearchOpen Access03 Jun 2022
Communications Biology

Volume: 5, P: 1-12
UGT1A1 genetic variants are associated with increases in bilirubin levels in rheumatoid arthritis patients treated with sarilumab

Nan Lin
Amy Damask
Charles Paulding
ResearchOpen Access11 Feb 2022
The Pharmacogenomics Journal

Volume: 22, P: 160-165
The global spectrum of plant form and function: enhanced species-level trait dataset

Sandra Díaz
Jens Kattge
Gerhard Zotz
ResearchOpen Access07 Dec 2022
Scientific Data

Volume: 9, P: 1-18
Heterogeneous associations between interleukin-6 receptor variants and phenotypes across ancestries and implications for therapy

Xuan Wang
Molei Liu
Katherine P. Liao
ResearchOpen Access05 Apr 2024
Scientific Reports

Volume: 14, P: 1-12
Phasic Dopaminergic Transmission Increases NO Efflux in the Rat Dorsal Striatum via a Neuronal NOS and a Dopamine D_1/5 Receptor-Dependent Mechanism

Stephen Sammut
Alexander Dec
Anthony R West
Research13 Jul 2005
Neuropsychopharmacology

Volume: 31, P: 493-505
Mutation spectrum of NOD2 reveals recessive inheritance as a main driver of Early Onset Crohn’s Disease

Julie E. Horowitz
Neil Warner
Claudia Gonzaga-Jauregui
ResearchOpen Access10 Mar 2021
Scientific Reports

Volume: 11, P: 1-10
Glucagon-Like Peptide-1 Receptor Signaling in the Lateral Parabrachial Nucleus Contributes to the Control of Food Intake and Motivation to Feed

Amber L Alhadeff
John-Paul Baird
Harvey J Grill
Research26 Mar 2014
Neuropsychopharmacology

Volume: 39, P: 2233-2243
Selective Strengthening of Conditioned Behaviors That Occur during Periods of Amphetamine Exposure

Xun Wan
John M Holden
Laura L Peoples
Research13 Dec 2006
Neuropsychopharmacology

Volume: 32, P: 1346-1357
ANGPTL7, a therapeutic target for increased intraocular pressure and glaucoma

Rare variant association data from human genetics combined with in vitro and in vivo functional validation highlight ANGPTL7 as a promising therapeutic target for intraocular pressure reduction, and protection from glaucoma.

Kavita Praveen
Gaurang C. Patel
Giovanni Coppola
ResearchOpen Access03 Oct 2022
Communications Biology

Volume: 5, P: 1-15
AusTraits, a curated plant trait database for the Australian flora

Daniel Falster
Rachael Gallagher
Kasia Ziemińska
ResearchOpen Access30 Sept 2021
Scientific Data

Volume: 8, P: 1-20
Electronic health record phenotype in subjects with genetic variants associated with arrhythmogenic right ventricular cardiomyopathy: a study of 30,716 subjects with exome sequencing

Christopher M Haggerty
Cynthia A James
Brandon K Fornwalt
Research04 May 2017
Genetics in Medicine

Volume: 19, P: 1245-1252
Genomic diagnostics within a medically underserved population: efficacy and implications

Kevin A Strauss
Claudia Gonzaga-Jauregui
Erik G Puffenberger
Research20 Jul 2017
Genetics in Medicine

Volume: 20, P: 31-41

Search

Filter By:

Search

Quick links