Nature Search

Functional implications of polygenic risk for schizophrenia in human neurons

Here the authors perturb genes linked to schizophrenia risk in human neurons. They find that single perturbations share common downstream effects on gene networks, while joint perturbations result in downstream effects being saturated.

PJ Michael Deans
Kayla G. Retallick-Townsley
Kristen J. Brennand
ResearchOpen Access10 Jan 2026
Nature Communications

P: 1-23
Impact of SARS-CoV-2 infection therapies on the risk of venous thromboembolism and cardiovascular events from the SEMI-COVID-19 Registry

Crhistian-Mario Oblitas
Pablo Demelo-Rodríguez
Hector Meijide Míguez
ResearchOpen Access05 Mar 2025
Scientific Reports

Volume: 15, P: 1-13
GWAS and meta-analysis identifies 49 genetic variants underlying critical COVID-19

An analysis of 24,202 critical cases of COVID-19 identifies potentially druggable targets in inflammatory signalling (JAK1), monocyte–macrophage activation and endothelial permeability (PDE4A), immunometabolism (SLC2A5 and AK5), and host factors required for viral entry and replication (TMPRSS2 and RAB2A).

Erola Pairo-Castineira
Konrad Rawlik
J. Kenneth Baillie
ResearchOpen Access17 May 2023
Nature

Volume: 617, P: 764-768
Mortality reduction in older COVID-19-patients hospitalized in Spain during the second pandemic wave from the SEMI-COVID-19 Registry

José-Manuel Casas-Rojo
Juan-Miguel Antón-Santos
Hector Meijide Míguez
ResearchOpen Access18 Oct 2023
Scientific Reports

Volume: 13, P: 1-18
The polygenic, omnigenic and stratagenic models of complex disease risk

This study discusses polygenic, omnigenic and stratagenic models developed to explain multigenic disease risk. It proposes means to test their validity, which has implications for research, drug development and precision medicine.

Judit García-González
Paul F. O’Reilly
Reviews20 Jan 2026
Nature Genetics

P: 1-11
Diminishing benefits of urban living for children and adolescents’ growth and development

The advantage of living in cities compared with rural areas with respect to height and BMI in children and adolescents has generally become smaller globally from 1990 to 2020, except in sub-Saharan Africa.

Anu Mishra
Bin Zhou
Majid Ezzati
ResearchOpen Access29 Mar 2023
Nature

Volume: 615, P: 874-883
Prospective individual patient data meta-analysis of two randomized trials on convalescent plasma for COVID-19 outpatients

Clinical studies have suggested that the therapeutic potential of polyclonal convalescent plasma is highest in the first days of symptoms. Here, the authors present results from a pooled analysis of two clinical trials in COVID-19 outpatients that did not provide conclusive evidence in favor of convalescent plasma.

Pere Millat-Martinez
Arvind Gharbharan
Michael Marks
ResearchOpen Access11 May 2022
Nature Communications

Volume: 13, P: 1-9
Author Correction: GWAS and meta-analysis identifies 49 genetic variants underlying critical COVID-19

Erola Pairo-Castineira
Konrad Rawlik
J. Kenneth Baillie
Amendments and CorrectionsOpen Access11 Jul 2023
Nature

Volume: 619, P: E61
rbfox1 LoF mutants show disrupted bdnf/trkb2 and crhb/nr3c2 expression and increased cortisol levels during development coupled with signs of allostatic overload in adulthood

Adele Leggieri
Judit García-González
Caroline H. Brennan
ResearchOpen Access19 Nov 2025
Translational Psychiatry

Volume: 15, P: 1-15
Shaping current European mitochondrial haplogroup frequency in response to infection: the case of SARS-CoV-2 severity

Genetic and Structural analysis of COVID patients cohort reveals a correlation between mitochondrial haplogroup and SARS-CoV-2 severity.

José Luis Cabrera-Alarcon
Raquel Cruz
José Antonio Enriquez
ResearchOpen Access09 Jan 2025
Communications Biology

Volume: 8, P: 1-12
Clonal chromosomal mosaicism and loss of chromosome Y in elderly men increase vulnerability for SARS-CoV-2

Among 9578 individuals diagnosed with COVID-19 in the SCOURGE study, individuals with clonal mosaic events (clonal mosaicism for chromosome alterations and/or loss of chromosome Y) showed an increased risk of COVID-19 lethality.

Luis A. Pérez-Jurado
Alejandro Cáceres
Juan R. González
ResearchOpen Access19 Feb 2024
Communications Biology

Volume: 7, P: 1-14
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
Author Correction: Prospective individual patient data meta-analysis of two randomized trials on convalescent plasma for COVID-19 outpatients

Pere Millat-Martinez
Arvind Gharbharan
Michael Marks
Amendments and CorrectionsOpen Access22 May 2024
Nature Communications

Volume: 15, P: 1
Plasma extracellular vesicle tau and TDP-43 as diagnostic biomarkers in FTD and ALS

Plasma extracellular vesicles contain quantifiable amounts of TDP-43 and full-length tau, allowing the accurate assessment of pathology in frontotemporal dementia, frontotemporal dementia spectrum disorders and amyotrophic lateral sclerosis.

Madhurima Chatterjee
Selcuk Özdemir
Anja Schneider
ResearchOpen Access18 Jun 2024
Nature Medicine

Volume: 30, P: 1771-1783
High p16 expression and heterozygous RB1 loss are biomarkers for CDK4/6 inhibitor resistance in ER⁺ breast cancer

CDK4/6 inhibitor resistance is common in breast cancer. Here, the authors show that p16 overexpression may be linked to reduced efficacy of CDK4/6 inhibition, and show that the combination with PI3K inhibitors may increase anti-tumour effects.

Marta Palafox
Laia Monserrat
Violeta Serra
ResearchOpen Access07 Sept 2022
Nature Communications

Volume: 13, P: 1-20
Author Correction: High p16 expression and heterozygous RB1 loss are biomarkers for CDK4/6 inhibitor resistance in ER⁺ breast cancer

Marta Palafox
Laia Monserrat
Violeta Serra
Amendments and CorrectionsOpen Access14 Nov 2022
Nature Communications

Volume: 13, P: 1
STK11 (LKB1) missense somatic mutant isoforms promote tumor growth, motility and inflammation

Paula Granado-Martínez, Sara Ortega, Elena González-Sánchez et al. report a functional analysis of four cancer-associated mutant isoforms of the gene STK11 using cell-based and animal models. They find the mutant isoforms no longer show tumor suppressor activity, promote tumor growth, and affect the regulation of cytokines and genes involved in vesicle trafficking.

Paula Granado-Martínez
Sara Garcia-Ortega
Juan A. Recio
ResearchOpen Access09 Jul 2020
Communications Biology

Volume: 3, P: 1-14
BridgePRS leverages shared genetic effects across ancestries to increase polygenic risk score portability

A powerful Bayesian method, BridgePRS, leverages shared genetic effects across ancestries to increase polygenic risk score portability in non-European populations.

Clive J. Hoggart
Shing Wan Choi
Paul F. O’Reilly
ResearchOpen Access20 Dec 2023
Nature Genetics

Volume: 56, P: 180-186
Epigenetic clocks in relapse after a first episode of schizophrenia

Àlex-González Segura
Llucia Prohens
Leticia González-Blanco
ResearchOpen Access22 Jul 2022
Schizophrenia

Volume: 8, P: 1-8
At-admission prediction of mortality and pulmonary embolism in an international cohort of hospitalised patients with COVID-19 using statistical and machine learning methods

Munib Mesinovic
Xin Ci Wong
David Zucman
ResearchOpen Access16 Jul 2024
Scientific Reports

Volume: 14, P: 1-43
Pleiotropic contribution of rbfox1 to psychiatric and neurodevelopmental phenotypes in two zebrafish models

Ester Antón-Galindo
Maja R. Adel
Bru Cormand
ResearchOpen Access19 Feb 2024
Translational Psychiatry

Volume: 14, P: 1-11
The effects of polygenic risk for psychiatric disorders and smoking behaviour on psychotic experiences in UK Biobank

Judit García-González
Julia Ramírez
Robert Keers
ResearchOpen Access28 Sept 2020
Translational Psychiatry

Volume: 10, P: 1-10
ISARIC-COVID-19 dataset: A Prospective, Standardized, Global Dataset of Patients Hospitalized with COVID-19

Ali Abbas
Sheryl Ann Abdukahil
Luis Felipe Reyes
ResearchOpen Access30 Jul 2022
Scientific Data

Volume: 9, P: 1-22
Role of POLE and POLD1 in familial cancer

Pilar Mur
Sandra García-Mulero
Laura Valle
ResearchOpen Access14 Aug 2020
Genetics in Medicine

Volume: 22, P: 2089-2100
Diagnosis accuracy of waist-to-height ratio to predict cardiometabolic risk in children with obesity

Judit Muñoz-Hernando
Veronica Luque
E. Balcells
Research01 Aug 2022
Pediatric Research

Volume: 93, P: 1294-1301

Search

Functional implications of polygenic risk for schizophrenia in human neurons

Impact of SARS-CoV-2 infection therapies on the risk of venous thromboembolism and cardiovascular events from the SEMI-COVID-19 Registry

GWAS and meta-analysis identifies 49 genetic variants underlying critical COVID-19

Mortality reduction in older COVID-19-patients hospitalized in Spain during the second pandemic wave from the SEMI-COVID-19 Registry

The polygenic, omnigenic and stratagenic models of complex disease risk

Diminishing benefits of urban living for children and adolescents’ growth and development

Prospective individual patient data meta-analysis of two randomized trials on convalescent plasma for COVID-19 outpatients

Author Correction: GWAS and meta-analysis identifies 49 genetic variants underlying critical COVID-19

rbfox1 LoF mutants show disrupted bdnf/trkb2 and crhb/nr3c2 expression and increased cortisol levels during development coupled with signs of allostatic overload in adulthood

Shaping current European mitochondrial haplogroup frequency in response to infection: the case of SARS-CoV-2 severity

Clonal chromosomal mosaicism and loss of chromosome Y in elderly men increase vulnerability for SARS-CoV-2

Mapping the human genetic architecture of COVID-19

Author Correction: Prospective individual patient data meta-analysis of two randomized trials on convalescent plasma for COVID-19 outpatients

Plasma extracellular vesicle tau and TDP-43 as diagnostic biomarkers in FTD and ALS

High p16 expression and heterozygous RB1 loss are biomarkers for CDK4/6 inhibitor resistance in ER⁺ breast cancer

Author Correction: High p16 expression and heterozygous RB1 loss are biomarkers for CDK4/6 inhibitor resistance in ER⁺ breast cancer

STK11 (LKB1) missense somatic mutant isoforms promote tumor growth, motility and inflammation

BridgePRS leverages shared genetic effects across ancestries to increase polygenic risk score portability

Epigenetic clocks in relapse after a first episode of schizophrenia

At-admission prediction of mortality and pulmonary embolism in an international cohort of hospitalised patients with COVID-19 using statistical and machine learning methods

Pleiotropic contribution of rbfox1 to psychiatric and neurodevelopmental phenotypes in two zebrafish models

The effects of polygenic risk for psychiatric disorders and smoking behaviour on psychotic experiences in UK Biobank

ISARIC-COVID-19 dataset: A Prospective, Standardized, Global Dataset of Patients Hospitalized with COVID-19

Role of POLE and POLD1 in familial cancer

Diagnosis accuracy of waist-to-height ratio to predict cardiometabolic risk in children with obesity

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