Nature Search

Artificial intelligence-enabled analysis of handheld single-lead electrocardiograms to predict incident atrial fibrillation: an analysis of the VITAL-AF randomized trial

Shaan Khurshid
Sam F. Friedman
Patrick T. Ellinor
ResearchOpen Access26 Nov 2025
npj Digital Medicine

Volume: 8, P: 1-12
Structure of a paradigm

The determination of the three-dimensional structure of the Escherichia coli Lac represser by X-ray crystallography reveals much of the mechanism of action of this historically important molecule.

Jeffrey H. Miller
News & Views01 Apr 1996
Nature Structural Biology

Volume: 3, P: 310-312
Genome-wide association study of 398,238 women unveils seven loci associated with high-grade serous ovarian cancer

Daniel R. Barnes
Jonathan P. Tyrer
Paul D. P. Pharoah
ResearchOpen Access20 Nov 2025
npj Genomic Medicine

Volume: 10, P: 1-21
Paracrine signalling by cardiac calcitonin controls atrial fibrogenesis and arrhythmia

Heart atria produce a large pool of calcitonin (previously well-recognized as a thyroid-secreted hormone with roles in calcium and bone metabolism) that in the heart acts as a paracrine signal controlling atrial fibrosis and fibrillation.

Lucia M. Moreira
Abhijit Takawale
Svetlana Reilly
Research04 Nov 2020
Nature

Volume: 587, P: 460-465
Reply to: Food Compass novelty and NOVA category assignments

Dariush Mozaffarian
Meghan O’Hearn
Renata Micha
Research11 Aug 2022
Nature Food

Volume: 3, P: 584-585
Mapping of a gene for type 2 diabetes associated with an insulin secretion defect by a genome scan in Finnish families

Melanie M. Mahtani
Elisabeth Widén
Leif C. Groop
Research01 Sept 1996
Nature Genetics

Volume: 14, P: 90-94
Sequence of protein disulphide isomerase and implications of its relationship to thioredoxin

Jeffrey C. Edman
Leland Ellis
William J. Rutter
Research19 Sept 1985
Nature

Volume: 317, P: 267-270
γ-Interferon transcriptionally regulates an early-response gene containing homology to platelet proteins

Andrew D. Luster
Jay C. Unkeless
Jeffrey V. Ravetch
Research20 Jun 1985
Nature

Volume: 315, P: 672-676
Comprehensive analysis of chromothripsis in 2,658 human cancers using whole-genome sequencing

Analysis of whole-genome sequencing data across 2,658 tumors spanning 38 cancer types shows that chromothripsis is pervasive, with a frequency of more than 50% in several cancer types, contributing to oncogene amplification, gene inactivation and cancer genome evolution.

Isidro Cortés-Ciriano
Jake June-Koo Lee
Christian von Mering
ResearchOpen Access05 Feb 2020
Nature Genetics

Volume: 52, P: 331-341
Comprehensive molecular characterization of mitochondrial genomes in human cancers

Analysis of mitochondrial genomes (mtDNA) by using whole-genome sequencing data from 2,658 cancer samples across 38 cancer types identifies hypermutated mtDNA cases, frequent somatic nuclear transfer of mtDNA and high variability of mtDNA copy number in many cancers.

Yuan Yuan
Young Seok Ju
Christian von Mering
ResearchOpen Access05 Feb 2020
Nature Genetics

Volume: 52, P: 342-352
Butler enables rapid cloud-based analysis of thousands of human genomes

Efficient, large-scale genomic analysis is facilitated on the cloud by a computational tool with error-diagnosing and self-healing capabilities.

Sergei Yakneen
Sebastian M. Waszak
Christian von Mering
ResearchOpen Access05 Feb 2020
Nature Biotechnology

Volume: 38, P: 288-292
Acute stimulation of glucose metabolism in mice by leptin treatment

Seika Kamohara
Rémy Burcelin
Maureen J. Charron
Research25 Sept 1997
Nature

Volume: 389, P: 374-377
Gene expression profile induced by leptin in white adipose tissue and liver

Alexander Soukas
Paul Cohen
Jeffrey M. Friedman
Research Highlights01 Nov 1999
Nature Genetics

Volume: 23, P: 75
Distinct genetic liability profiles define clinically relevant patient strata across common diseases

Stratified medicine promises to tailor treatment for individual patients, however it remains a major challenge to leverage genetic risk data to aid patient stratification. Here the authors introduce an approach to stratify individuals based on the aggregated impact of their genetic risk factor profiles on tissue-specific gene expression levels, and highlight its ability to identify biologically meaningful and clinically actionable patient subgroups, supporting the notion of different patient ‘biotypes’ characterized by partially distinct disease mechanisms.

Lucia Trastulla
Georgii Dolgalev
Michael J. Ziller
ResearchOpen Access01 Jul 2024
Nature Communications

Volume: 15, P: 1-28
Strong protective effect of the APOL1 p.N264K variant against G2-associated focal segmental glomerulosclerosis and kidney disease

African Americans have an elevated risk of developing chronic kidney disease, yet only a fraction of those with high-risk genotypes develop the disease. Here, the authors show that a missense variant in APOL1 has a strong protective effect when co-inherited with the high-risk G2 allele of APOL1, with important implications for clinical practice and translational research.

Yask Gupta
David J. Friedman
Simone Sanna-Cherchi
ResearchOpen Access30 Nov 2023
Nature Communications

Volume: 14, P: 1-8
Myocardial infarction augments sleep to limit cardiac inflammation and damage

Studies in humans and mice show that myocardial infarction recruits monocytes to the brain’s thalamus, promoting sleep, which in turn restricts cardiac inflammation and sympathetic signalling and assists healing.

Pacific Huynh
Jan D. Hoffmann
Cameron S. McAlpine
Research30 Oct 2024
Nature

Volume: 635, P: 168-177
Food Compass 2.0 is an improved nutrient profiling system to characterize healthfulness of foods and beverages

Nutrition profiling systems inform nutritional and health policies to prevent disease and promote health. This study presents a revised version of the Food Compass nutrient profiling system that incorporates the latest evidence linking diet and health—and which has been validated against health outcomes in a US population.

Eden M. Barrett
Peilin Shi
Dariush Mozaffarian
ResearchOpen Access08 Oct 2024
Nature Food

Volume: 5, P: 911-915
Mapping genomic loci implicates genes and synaptic biology in schizophrenia

A genome-wide association study including over 76,000 individuals with schizophrenia and over 243,000 control individuals identifies common variant associations at 287 genomic loci, and further fine-mapping analyses highlight the importance of genes involved in synaptic processes.

Vassily Trubetskoy
Antonio F. Pardiñas
Jim van Os
Research08 Apr 2022
Nature

Volume: 604, P: 502-508
Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer

Stig Bojesen, Georgia Chenevix-Trench, Alison Dunning and colleagues report common variants at the TERT-CLPTM1L locus associated with mean telomere length measured in whole blood. They also identify associations at this locus to breast or ovarian cancer susceptibility and report functional studies in breast and ovarian cancer tissue and cell lines.

Stig E Bojesen
Karen A Pooley
Alison M Dunning
Research27 Mar 2013
Nature Genetics

Volume: 45, P: 371-384
Shared heritability and functional enrichment across six solid cancers

Similarities in cancers can be studied to interrogate their etiology. Here, the authors use genome-wide association study summary statistics from six cancer types based on 296,215 cases and 301,319 controls of European ancestry, showing that solid tumours arising from different tissues share a degree of common germline genetic basis.

Xia Jiang
Hilary K. Finucane
Sara Lindström
ResearchOpen Access25 Jan 2019
Nature Communications

Volume: 10, P: 1-23
Validation of Food Compass with a healthy diet, cardiometabolic health, and mortality among U.S. adults, 1999–2018

The Food Compass is a nutrient profiling system to characterize the healthfulness of diverse foods, beverages and meals. In a nationally representative cohort of 47,999 U.S. adults, the authors validate a person’s individual Food Compass Score against health outcomes.

Meghan O’Hearn
Joshua Erndt-Marino
Dariush Mozaffarian
ResearchOpen Access22 Nov 2022
Nature Communications

Volume: 13, P: 1-14
High-throughput, targeted MHC class I immunopeptidomics using a functional genetics screening platform

Peptides that bind MHC class I are readily identified with a programmable, high-throughput method.

Peter M. Bruno
Richard T. Timms
Stephen J. Elledge
Research02 Jan 2023
Nature Biotechnology

Volume: 41, P: 980-992
Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer

Oestrogen negative breast cancer is associated with a poor prognosis. In this study, the authors perform a meta-analysis of 11 breast cancer genome-wide association studies and identify four new loci associated with oestrogen negative breast cancer risk. These findings may aid in stratifying patients in the clinic.

Fergus J. Couch
Karoline B. Kuchenbaecker
Antonis C. Antoniou
ResearchOpen Access27 Apr 2016
Nature Communications

Volume: 7, P: 1-13
Tissue and cellular rigidity and mechanosensitive signaling activation in Alexander disease

Alexander disease is a rare neurodegeneration caused by mutations in a glial gene GFAP. Here, Wang and colleagues show in animal models of Alexander disease that GFAP mutant brain and cells have greater tissue and cellular stiffness and greater activation of mechanosensitive signaling cascade.

Liqun Wang
Jing Xia
Mel B. Feany
ResearchOpen Access15 May 2018
Nature Communications

Volume: 9, P: 1-14
A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers

Breast cancer risk for BRCA1/BRCA2 mutation carriers varies depending on other genetic factors. Here, the authors perform a case-only genome-wide association study and highlight novel loci associated with breast cancer risk for BRCA1/BRCA2 mutation carriers.

Juliette Coignard
Michael Lush
Antonis C. Antoniou
ResearchOpen Access17 Feb 2021
Nature Communications

Volume: 12, P: 1-22
Mapping the human genetic architecture of COVID-19

A global network of researchers was formed to investigate the role of human genetics in SARS-CoV-2 infection and COVID-19 severity; this paper reports 13 genome-wide significant loci and potentially actionable mechanisms in response to infection.

Mari E. K. Niemi
Juha Karjalainen
Chloe Donohue
ResearchOpen Access08 Jul 2021
Nature

Volume: 600, P: 472-477
Expression of the Complement Receptors CR1 and CR3 and the Type III Fc_γ Receptor on Neutrophils from Newborn Infants and from Fetuses with Rh Disease

Jeffrey B Smith
Donald E Campbell
Mary Catherine Harris
Research01 Aug 1990
Pediatric Research

Volume: 28, P: 120-126
Host metabolism balances microbial regulation of bile acid signalling

A family of host-derived bile acid–methylcysteamine conjugates functions as FXR antagonists, forming part of a microbiota-dependent metabolic network that regulates FXR-dependent physiology.

Tae Hyung Won
Mohammad Arifuzzaman
Frank C. Schroeder
Research08 Jan 2025
Nature

Volume: 638, P: 216-224
A 3-dimensional microarray system for parallel genotyping of single nucleotide polymorphisms

Walter Klimecki
J. Todd Tuggle
Theresa Raich
Research Highlights01 Nov 1999
Nature Genetics

Volume: 23, P: 55
Leptin and the endocrine control of energy balance

Jeffrey Friedman reviews the biology and evolutionary role of leptin as a regulator of behaviour and metabolism. He goes on to propose the existence of two states of obesity, distinguished by hyposecretion or hypersecretion of leptin, referred to as ‘Type 1 obesity’ and ‘Type 2 obesity’, respectively.

Jeffrey M. Friedman
Reviews12 Aug 2019
Nature Metabolism

Volume: 1, P: 754-764
A leptin–BDNF pathway regulating sympathetic innervation of adipose tissue

The authors show that leptin signalling regulates the plasticity of sympathetic architecture of adipose tissue via a top-down neural pathway that is crucial for energy homeostasis.

Putianqi Wang
Ken H. Loh
Jeffrey Friedman
Research22 Jul 2020
Nature

Volume: 583, P: 839-844
HEAD GROWTH IN SICK PREMATURE INFANTS-A LONGITUDINAL STUDY

Keith H Marks
Ellen Moore
Nicholas M Nelson
Research01 Apr 1977
Pediatric Research

Volume: 11, P: 527
1065 PATHOPHYSIOLOGY OF CHRONIC HEREDITARY HYDRONEPHROSIS IN THE RAT

Jeffrey Friedman
John E Lewy
Research01 Apr 1978
Pediatric Research

Volume: 12, P: 541
Migratory dendritic cells acquire and present lymphatic endothelial cell-archived antigens during lymph node contraction

Viral infection and vaccination both induce lasting persistence of antigens for protective responses. Here the authors show that migratory dendritic cells, independent of the transcription factor BatF3 for their development, contribute to “archived antigen” exchange with lymphatic endothelial cells.

Ross M. Kedl
Robin S. Lindsay
Beth A. Jirón Tamburini
ResearchOpen Access11 Dec 2017
Nature Communications

Volume: 8, P: 1-15
CHRONIC UNILATERAL HYDRONEPHROSIS-EVALUATION OF RENAL FUNCTION

Jeffrey Friedman
John R Hover
John E Levy
Research01 Apr 1977
Pediatric Research

Volume: 11, P: 550
FUROSEMIDE (FS) IN HYALINE MEMBRANE DISEASE (HMD)

Keith H Marks
William Berman Jr.
Nicholas M Nelson
Research01 Apr 1977
Pediatric Research

Volume: 11, P: 575
THE INFLUENCE OF HYPERALIMENTATION SOLUTIONS ON INSENSIBLE WATER LOSS (IWL) IN PREMATURE INFANTS

Keith H Marks
Timothy P Farrell
Nicholas M Nelson
Research01 Apr 1977
Pediatric Research

Volume: 11, P: 446
1091 POSSIBLE EFFECT OF ANTIBIOTICS ON URINE SPECIFIC GRAVITY (SG) AND OSMOLALITY (Osm) IN THE NEWBORN

Keith H Marks
Zvi Friedman
M Jeffrey Maisels
Research01 Apr 1978
Pediatric Research

Volume: 12, P: 545
THYROID FUNCTION IN INFANTS ADMITTED TO A NEONATAL INTENSIVE CARE UNIT (NICU): A LONGITUDINAL ASSESSMENT

Susan Uhrmann
Keith H Marks
Robert Utiger
Research01 Apr 1977
Pediatric Research

Volume: 11, P: 432
Author Correction: Food Compass is a nutrient profiling system using expanded characteristics for assessing healthfulness of foods

Dariush Mozaffarian
Naglaa H. El-Abbadi
Renata Micha
Amendments and Corrections03 Aug 2022
Nature Food

Volume: 3, P: 664
Passive immunization with an extended half-life monoclonal antibody protects Rhesus macaques against aerosolized ricin toxin

Chad J. Roy
Greta Van Slyke
Nicholas J. Mantis
ResearchOpen Access13 Feb 2020
npj Vaccines

Volume: 5, P: 1-8
Genome-wide association meta-analyses combining multiple risk phenotypes provide insights into the genetic architecture of cutaneous melanoma susceptibility

Meta-analysis of 36,760 cases and 375,188 controls identifies 54 loci associated with susceptibility to cutaneous melanoma. Further analysis combining nevus count and hair color GWAS results provide insights into the genetic architecture of melanoma.

Maria Teresa Landi
D. Timothy Bishop
Matthew H. Law
Research27 Apr 2020
Nature Genetics

Volume: 52, P: 494-504
Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer

Over 170 susceptibility loci have been identified by genome-wide association studies in breast cancer. Here, the authors interrogated the role of risk-associated variants from non-breast tissue, and using expression quantitative trait loci, identify potential target genes of known breast cancer susceptibility variants, as well as 11 regions not previously known to be associated with breast cancer risk.

Manuel A. Ferreira
Eric R. Gamazon
Georgia Chenevix-Trench
ResearchOpen Access15 Apr 2019
Nature Communications

Volume: 10, P: 1-18
Author Correction: Inferring structural variant cancer cell fraction

Marek Cmero
Ke Yuan
Christian von Mering
Amendments and CorrectionsOpen Access08 Dec 2022
Nature Communications

Volume: 13, P: 1
Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects

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
Research21 Nov 2016
Nature Genetics

Volume: 49, P: 27-35
Classification and prediction of clinical Alzheimer's diagnosis based on plasma signaling proteins

Sandip Ray
Markus Britschgi
Tony Wyss-Coray
Research14 Oct 2007
Nature Medicine

Volume: 13, P: 1359-1362
Foxa2 regulates lipid metabolism and ketogenesis in the liver during fasting and in diabetes

Christian Wolfrum
Esra Asilmaz
Markus Stoffel
Research23 Dec 2004
Nature

Volume: 432, P: 1027-1032
Evaluating potential for whole-genome studies in Kosrae, an isolated population in Micronesia

Penelope E Bonnen
Itsik Pe'er
Jeffrey M Friedman
Research22 Jan 2006
Nature Genetics

Volume: 38, P: 214-217
Assessment of degenerative cervical stenosis on T2-weighted MR imaging: sensitivity to change and reliability of mid-sagittal and axial plane metrics

Keerthana Sritharan
Uphar Chamoli
Ashish D. Diwan
Research26 Sept 2019
Spinal Cord

Volume: 58, P: 238-246
Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer

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
Research27 Mar 2017
Nature Genetics

Volume: 49, P: 680-691

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