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European Journal of Human Genetics (8)
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Showing 1–21 of 21 results

Advanced filters: Author: Simone Furini Clear advanced filters

Limited overlap between genetic effects on disease susceptibility and disease survival

Systematic comparison of genome-wide association results for disease risk and disease-specific mortality for nine common diseases across seven biobanks finds limited overlap between genetic effects on disease susceptibility and survival.

Zhiyu Yang
Fanny-Dhelia Pajuste
Andrea Ganna
ResearchOpen Access30 Sept 2025
Nature Genetics

Volume: 57, P: 2418-2426
Resource-aware construct design in mammalian cells

Resource competition can be the cause of unintended coupling between co-expressed genetic constructs. Here the authors quantify the resource load imposed by different mammalian genetic components to identify construct designs with increased performance and reduced resource footprint.

Roberto Di Blasi
Mara Pisani
Francesca Ceroni
ResearchOpen Access16 Jun 2023
Nature Communications

Volume: 14, P: 1-10
A unified framework for estimating country-specific cumulative incidence for 18 diseases stratified by polygenic risk

Here the authors present a framework for estimating disease risk using PGS accounting for country, age and sex. They find that PGSs have a significant sex-specific effect on common diseases, and their effect is typically larger in young individuals.

Bradley Jermy
Kristi Läll
Samuli Ripatti
ResearchOpen Access12 Jun 2024
Nature Communications

Volume: 15, 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
Genome-wide association study of long COVID

A genome-wide study by the Long COVID Host Genetics Initiative identifies an association between the FOXP4 locus and long COVID, implicating altered lung function in its pathophysiology.

Vilma Lammi
Tomoko Nakanishi
Hanna M. Ollila
ResearchOpen Access21 May 2025
Nature Genetics

Volume: 57, P: 1402-1417
Burden-driven feedback control of gene expression

In this CRISPR-based feedback control system, sgRNA expression is triggered by the burden of protein overexpression, and the sgRNA directs repression of the exogenous gene promoter to reduce burdensome expression and restore growth of the cell.

Francesca Ceroni
Alice Boo
Tom Ellis
Research26 Mar 2018
Nature Methods

Volume: 15, P: 387-393
Whole-genome sequencing reveals host factors underlying critical COVID-19

Whole-genome sequencing, transcriptome-wide association and fine-mapping analyses in over 7,000 individuals with critical COVID-19 are used to identify 16 independent variants that are associated with severe illness in COVID-19.

Athanasios Kousathanas
Erola Pairo-Castineira
J. Kenneth Baillie
ResearchOpen Access07 Mar 2022
Nature

Volume: 607, P: 97-103
A genome-wide association study for survival from a multi-centre European study identified variants associated with COVID-19 risk of death

Francesca Minnai
Filippo Biscarini
Francesca Colombo
ResearchOpen Access06 Feb 2024
Scientific Reports

Volume: 14, P: 1-14
Genetic mechanisms of critical illness in COVID-19

A genome-wide association study of critically ill patients with COVID-19 identifies genetic signals that relate to important host antiviral defence mechanisms and mediators of inflammatory organ damage that may be targeted by repurposing drug treatments.

Erola Pairo-Castineira
Sara Clohisey
J. Kenneth Baillie
Research11 Dec 2020
Nature

Volume: 591, P: 92-98
Correction to: High rate of HDR in gene editing of p.(Thr158Met) MECP2 mutational hotspot

Susanna Croci
Miriam Lucia Carriero
Ilaria Meloni
Amendments and Corrections03 Feb 2023
European Journal of Human Genetics

Volume: 32, P: 134
Correction: New frontiers to cure Alport syndrome: COL4A3 and COL4A5 gene editing in podocyte-lineage cells

Sergio Daga
Francesco Donati
Anna Maria Pinto
Amendments and CorrectionsOpen Access18 Jan 2023
European Journal of Human Genetics

Volume: 32, P: 131
A first update on mapping the human genetic architecture of COVID-19

Gita A. Pathak
Juha Karjalainen
J. Kenneth Baillie
ResearchOpen Access03 Aug 2022
Nature

Volume: 608, P: E1-E10
An explainable model of host genetic interactions linked to COVID-19 severity

A multifaceted computational strategy identifies 16 genetic variants contributing to increased risk of severe COVID-19 infection from a Whole Exome Sequencing dataset of a cohort of Italian patients.

Anthony Onoja
Nicola Picchiotti
Francesco Raimondi
ResearchOpen Access26 Oct 2022
Communications Biology

Volume: 5, P: 1-14
Employing a systematic approach to biobanking and analyzing clinical and genetic data for advancing COVID-19 research

Sergio Daga
Chiara Fallerini
Elisa Frullanti
ResearchOpen Access17 Jan 2021
European Journal of Human Genetics

Volume: 29, P: 745-759
AAV-mediated FOXG1 gene editing in human Rett primary cells

Susanna Croci
Miriam Lucia Carriero
Ilaria Meloni
Research15 Jun 2020
European Journal of Human Genetics

Volume: 28, P: 1446-1458
New frontiers to cure Alport syndrome: COL4A3 and COL4A5 gene editing in podocyte-lineage cells

Sergio Daga
Francesco Donati
Anna Maria Pinto
ResearchOpen Access21 Nov 2019
European Journal of Human Genetics

Volume: 28, P: 480-490
High rate of HDR in gene editing of p.(Thr158Met) MECP2 mutational hotspot

Susanna Croci
Miriam Lucia Carriero
Ilaria Meloni
Research24 Apr 2020
European Journal of Human Genetics

Volume: 28, P: 1231-1242
ACE2 gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population

Elisa Benetti
Rossella Tita
Anna Maria Pinto
ResearchOpen Access17 Jul 2020
European Journal of Human Genetics

Volume: 28, P: 1602-1614
Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses

German Demidov
Burcu Yaldiz
Steven Laurie
ResearchOpen Access26 Oct 2024
npj Genomic Medicine

Volume: 9, P: 1-24
Rare variants in Toll-like receptor 7 results in functional impairment and downregulation of cytokine-mediated signaling in COVID-19 patients

Stefania Mantovani
Sergio Daga
Alessandra Renieri
ResearchOpen Access24 Dec 2021
Genes & Immunity

Volume: 23, P: 51-56
Host genetic basis of COVID-19: from methodologies to genes

Kristina Zguro
Chiara Fallerini
Alessandra Renieri
ReviewsOpen Access27 May 2022
European Journal of Human Genetics

Volume: 30, P: 899-907