Nature Search

Polygenic and developmental profiles of autism differ by age at diagnosis

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 Access01 Oct 2025
Nature

P: 1-12
An Effect of Emotion on Voice

ARNOLD J. FRIEDHOFF
MURRAY ALPERT
RICHARD L. KURTZBERG
Research27 Jan 1962
Nature

Volume: 193, P: 357-358
Shared genetic architecture of posttraumatic stress disorder with cardiovascular imaging, risk, and diagnoses

Study shows PTSD predisposition shares distinct genes and genomic regions with several cardiovascular conditions. Here the findings reveal neuronal, immune, and metabolic pathways, and repurposed drug targets that further the understanding of the comorbidity.

Jie Shen
Wander Valentim
Gita A. Pathak
ResearchOpen Access01 Jul 2025
Nature Communications

Volume: 16, P: 1-17
Transient Raman study of CO–haemoprotein photolysis: origin of the quantum yield

J. M. Friedman
K. B. Lyons
Research10 Apr 1980
Nature

Volume: 284, P: 570-572
Punishment learning and self-mutilation in Lesch–Nyhan disease

LOWELL ANDERSON
JOSEPH DANCIS
LENORA HERRMANN
Research01 Feb 1977
Nature

Volume: 265, P: 461-463
Immune resilience despite inflammatory stress promotes longevity and favorable health outcomes including resistance to infection

The response to infectious and inflammatory challenges differs among people but the reasons for this are poorly understood. Here the authors explore the impact of variables such as age, sex, and the capacity for controlling inflammation and maintaining immunocompetence, linking this capacity to favourable health outcomes and lifespan.

Sunil K. Ahuja
Muthu Saravanan Manoharan
Weijing He
ResearchOpen Access13 Jun 2023
Nature Communications

Volume: 14, P: 1-31
Nanosecond transient Raman spectra of photolysed carboxyhaemoglobin

K. B. LYONS
J. M. FRIEDMAN
P. A. FLEURY
Research12 Oct 1978
Nature

Volume: 275, P: 565-566
Genome-wide analyses identify 30 loci associated with obsessive–compulsive disorder

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 Access13 May 2025
Nature Genetics

Volume: 57, P: 1389-1401
Deciphering distinct genetic risk factors for FTLD-TDP pathological subtypes via whole-genome sequencing

Here the authors identify TNIP1 as a risk factor for a fatal neurodegenerative disorder and discover specific genetic loci associated with the three main subtypes of this disorder. The findings highlight distinct disease mechanisms, emphasizing the roles of immunity and the notch signaling pathway.

Cyril Pottier
Fahri Küçükali
Rosa Rademakers
ResearchOpen Access25 Apr 2025
Nature Communications

Volume: 16, P: 1-19
Genome-wide association analyses identify 95 risk loci and provide insights into the neurobiology of post-traumatic stress disorder

Multi-ancestry genome-wide analyses identify 95 loci associated with post-traumatic stress disorder and implicate candidate genes, pathways and neurobiological systems underlying its pathophysiology.

Caroline M. Nievergelt
Adam X. Maihofer
Karestan C. Koenen
Research18 Apr 2024
Nature Genetics

Volume: 56, P: 792-808
Utility of 15(S)-HETE as a Serological Marker for Eosinophilic Esophagitis

Shaolei Lu
Michael Herzlinger
Murray Resnick
ResearchOpen Access28 Sept 2018
Scientific Reports

Volume: 8, P: 1-8
Genome-wide association analyses identify distinct genetic architectures for age-related macular degeneration across ancestries

Multi-ancestry genome-wide analyses identify new risk loci for age-related macular degeneration. Ancestry-specific analyses identify distinct effects at major risk loci, including smaller effect sizes for CFH risk alleles in haplotypes of African ancestry.

Bryan R. Gorman
Georgios Voloudakis
Sudha K. Iyengar
Research02 Dec 2024
Nature Genetics

Volume: 56, P: 2659-2671
Multi-ancestry genome-wide gene–smoking interaction study of 387,272 individuals identifies new loci associated with serum lipids

A multi-ancestry genome-wide gene–smoking interaction study identifies 13 new loci associated with serum lipids.

Amy R. Bentley
Yun J. Sung
L. Adrienne Cupples
Research29 Mar 2019
Nature Genetics

Volume: 51, P: 636-648
Multi-ancestry study of blood lipid levels identifies four loci interacting with physical activity

GWAS have identified more than 500 genetic loci associated with blood lipid levels. Here, the authors report a genome-wide analysis of interactions between genetic markers and physical activity, and find that physical activity modifies the effects of four genetic loci on HDL or LDL cholesterol.

Tuomas O. Kilpeläinen
Amy R. Bentley
Ruth J. F. Loos
ResearchOpen Access22 Jan 2019
Nature Communications

Volume: 10, P: 1-11
Racial and ethnic differences in prenatal exposure to environmental phenols and parabens in the ECHO Cohort

Michael S. Bloom
Sudhi Upadhyaya
Lynne M. Smith
ResearchOpen Access15 Feb 2025
Journal of Exposure Science & Environmental Epidemiology

P: 1-11
Human-interpretable image features derived from densely mapped cancer pathology slides predict diverse molecular phenotypes

Computational methods have made progress in improving classification accuracy and throughput of pathology workflows, but lack of interpretability remains a barrier to clinical integration. Here, the authors present an approach for predicting clinically-relevant molecular phenotypes from whole-slide histopathology images using human-interpretable image features.

James A. Diao
Jason K. Wang
Amaro Taylor-Weiner
ResearchOpen Access12 Mar 2021
Nature Communications

Volume: 12, P: 1-15
Host factors are associated with vaginal microbiome structure in pregnancy in the ECHO Cohort Consortium

Kimberly McKee
Christine M. Bassis
Lynne M. Smith
ResearchOpen Access23 May 2024
Scientific Reports

Volume: 14, P: 1-19
A marine biogenic source of atmospheric ice-nucleating particles

The presence of ice in clouds can influence cloud lifetime, precipitation and radiative properties; here, organic material at the sea–air interface, possibly associated with phytoplankton cell exudates, is shown to nucleate ice under conditions relevant for ice cloud formation in the atmospheric environment.

Theodore W. Wilson
Luis A. Ladino
Benjamin J. Murray
Research09 Sept 2015
Nature

Volume: 525, P: 234-238
Smooth muscle tumors of the gastrointestinal tract: an analysis of prognostic features in 407 cases

Lindsay Alpert
Ram Al-Sabti
Mary P. Bronner
Research12 Feb 2020
Modern Pathology

Volume: 33, P: 1410-1419
Acceptable performance of blood biomarker tests of amyloid pathology — recommendations from the Global CEO Initiative on Alzheimer’s Disease

Anti-amyloid treatments for early symptomatic Alzheimer disease have greatly increased the need for biomarker confirmation of amyloid pathology and blood biomarker tests offer an accessible and scalable biomarker test. This Consensus Statement provides recommendations for the minimum acceptable performance of blood biomarker tests for clinical use.

Suzanne E. Schindler
Douglas Galasko
Oskar Hansson
Reviews12 Jun 2024
Nature Reviews Neurology

Volume: 20, P: 426-439
Association of maternal pre-pregnancy or first trimester body mass index with neurodevelopmental impairment or death in extremely low gestational age neonates

Sanjay Chawla
Abbot R. Laptook
Jon E. Tyson
Research23 Feb 2024
Journal of Perinatology

Volume: 44, P: 802-810
Predicting anterior cruciate ligament failure load with T₂* relaxometry and machine learning as a prospective imaging biomarker for revision surgery

Sean W. Flannery
Jillian E. Beveridge
Braden C. Fleming
ResearchOpen Access02 Mar 2023
Scientific Reports

Volume: 13, P: 1-10
Genetic variants associated with patent ductus arteriosus in extremely preterm infants

John M. Dagle
Kelli K. Ryckman
Jeffrey C. Murray
Research05 Dec 2018
Journal of Perinatology

Volume: 39, P: 401-408
Gastrointestinal stromal tumors (GISTs) arising in uncommon locations: clinicopathologic features and risk assessment of esophageal, colonic, and appendiceal GISTs

Shaomin Hu
Lindsay Alpert
John Hart
Research26 Oct 2021
Modern Pathology

Volume: 35, P: 554-563
Volume of subcortical brain regions in social anxiety disorder: mega-analytic results from 37 samples in the ENIGMA-Anxiety Working Group

Nynke A. Groenewold
Janna Marie Bas-Hoogendam
Nic J. A. Van der Wee
Research19 Jan 2023
Molecular Psychiatry

Volume: 28, P: 1079-1089
Neurobiology of loneliness: a systematic review

Jeffrey A. Lam
Emily R. Murray
Ellen E. Lee
Research06 Jul 2021
Neuropsychopharmacology

Volume: 46, P: 1873-1887
Cortical and subcortical brain structure in generalized anxiety disorder: findings from 28 research sites in the ENIGMA-Anxiety Working Group

Anita Harrewijn
Elise M. Cardinale
Daniel S. Pine
ResearchOpen Access01 Oct 2021
Translational Psychiatry

Volume: 11, P: 1-15
Genomic influences on self-reported childhood maltreatment

Shareefa Dalvie
Adam X. Maihofer
Caroline M. Nievergelt
ResearchOpen Access27 Jan 2020
Translational Psychiatry

Volume: 10, P: 1-12
Correction: Neonatal sepsis definitions from randomised clinical trials

Rían Hayes
Jack Hartnett
Eleanor J. Molloy
Amendments and CorrectionsOpen Access29 Jul 2024
Pediatric Research

Volume: 96, P: 1882
Expression microarray analysis identifies novel epithelial-derived protein markers in eosinophilic esophagitis

Andres Matoso
Vincent A Mukkada
Murray B Resnick
Research15 Mar 2013
Modern Pathology

Volume: 26, P: 665-676
Fatty acid-binding protein 1 is preferentially lost in microsatellite instable colorectal carcinomas and is immune modulated via the interferon γ pathway

Stephanie M Wood
Anthony J Gill
Murray B Resnick
Research30 Sept 2016
Modern Pathology

Volume: 30, P: 123-133
Claudin expression in high-grade invasive ductal carcinoma of the breast: correlation with the molecular subtype

Shaolei Lu
Kamaljeet Singh
Evgeny Yakirevich
Research07 Dec 2012
Modern Pathology

Volume: 26, P: 485-495
Medullary carcinoma of the colon: a distinct morphology reveals a distinctive immunoregulatory microenvironment

Kenneth Friedman
Alexander S Brodsky
Murray B Resnick
Research11 Mar 2016
Modern Pathology

Volume: 29, P: 528-541
Neonatal sepsis definitions from randomised clinical trials

Rían Hayes
Jack Hartnett
Eleanor J. Molloy
ReviewsOpen Access06 Nov 2021
Pediatric Research

Volume: 93, P: 1141-1148
DNA-based screening and personal health: a points to consider statement for individuals and health-care providers from the American College of Medical Genetics and Genomics (ACMG)

Lora J. H. Bean
Maren T. Scheuner
Cynthia M. Powell
Reviews31 Mar 2021
Genetics in Medicine

Volume: 23, P: 979-988
DNA-based screening and population health: a points to consider statement for programs and sponsoring organizations from the American College of Medical Genetics and Genomics (ACMG)

Michael F. Murray
Monica A. Giovanni
Michael S. Watson
Reviews16 Mar 2021
Genetics in Medicine

Volume: 23, P: 989-995

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