Nature Search

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
A second update on mapping the human genetic architecture of COVID-19

Masahiro Kanai
Shea J. Andrews
Matthew Solomonson
ResearchOpen Access06 Sept 2023
Nature

Volume: 621, P: E7-E26
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
CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

Chromodomain Helicase DNA-binding (CHD) proteins have been implicated in neurodevelopmental processes. Here, the authors identify missense variants in CHD3 that disturb its chromatin remodeling activities and cause a neurodevelopmental disorder with macrocephaly and speech and language impairment.

Lot Snijders Blok
Justine Rousseau
Philippe M. Campeau
ResearchOpen Access05 Nov 2018
Nature Communications

Volume: 9, P: 1-12
A long-term study of AAV gene therapy in dogs with hemophilia A identifies clonal expansions of transduced liver cells

AAV therapy in dogs leads to clonal expansions of transduced cells.

Giang N. Nguyen
John K. Everett
Denise E. Sabatino
Research16 Nov 2020
Nature Biotechnology

Volume: 39, P: 47-55
PSMA-targeting TGFβ-insensitive armored CAR T cells in metastatic castration-resistant prostate cancer: a phase 1 trial

CAR T cells targeting PSMA and engineered to be resistant to immunosuppressive TGFβ signaling exhibit dose-dependent toxicity and expansion following infusion, with some transient antitumor activity, in patients with metastatic castration-resistant prostate cancer

Vivek Narayan
Julie S. Barber-Rotenberg
Naomi B. Haas
Research21 Mar 2022
Nature Medicine

Volume: 28, P: 724-734
Distinct pathways of homologous recombination controlled by the SWS1–SWSAP1–SPIDR complex

Human SWS1, SWSAP1, and SPIDR interact with RAD51, a critical protein for homology-directed repair. Here the authors reveal roles for the mouse SWS1–SWSAP1–SPIDR complex in inter-homolog recombination, including during meiosis, and sister chromatid exchange in BLM helicase deficient cells.

Rohit Prakash
Thomas Sandoval
Maria Jasin
ResearchOpen Access12 Jul 2021
Nature Communications

Volume: 12, P: 1-15
Dissociation of tau pathology and neuronal hypometabolism within the ATN framework of Alzheimer’s disease

In Alzheimer’s disease (AD) tau and neurodegeneration have complex regional relationships. Here, the authors show neuronal hypometabolism discordant with tau burden defines functional resilience or susceptibility to Alzheimer’s pathology via limbic/cortical axes. Susceptible groups have faster cognitive decline and evidence of non-Alzheimer’s pathologies.

Michael Tran Duong
Sandhitsu R. Das
Ilya M. Nasrallah
ResearchOpen Access21 Mar 2022
Nature Communications

Volume: 13, P: 1-15
Identification of early neurodegenerative pathways in progressive multiple sclerosis

By complementing spatial transcriptomics with high-resolution proteomics, Kaufmann et al. tracked a gradient of disease severity across the brains of patients with progressive multiple sclerosis, uncovering new therapeutic opportunities to slow disease.

Max Kaufmann
Anna-Lena Schaupp
Lars Fugger
Research20 Jun 2022
Nature Neuroscience

Volume: 25, P: 944-955
Synovial fluid as a complex molecular pool contributing to knee osteoarthritis

The synovial fluid lubricates joints while also collecting molecular mediators from surrounding tissues. This Review highlights how molecular analyses of the synovial fluid might provide information on the progression of knee osteoarthritis and treatment efficacy, and identify potential therapeutic strategies targeting synovial fluid mediators in knee osteoarthritis.

Hayley Peters
Jason S. Rockel
Mohit Kapoor
Reviews07 Jul 2025
Nature Reviews Rheumatology

Volume: 21, P: 447-464
Whole-genome sequencing of a sporadic primary immunodeficiency cohort

Whole-genome sequencing analysis of individuals with primary immunodeficiency identifies new candidate disease-associated genes and shows how the interplay between genetic variants can explain the variable penetrance and complexity of the disease.

James E. D. Thaventhiran
Hana Lango Allen
Kenneth G. C. Smith
Research06 May 2020
Nature

Volume: 583, P: 90-95
Make global biodiversity information useful to national decision-makers

Participants in the Convention on Biological Diversity’s processes for implementing the Kunming-Montréal Global Biodiversity Framework need clarity on what makes biodiversity information useful to national decision-makers. Here we present seven preconditions of useful biodiversity information and describe how these can be supported through regional support centres and south–south cooperation.

Falko T. Buschke
Claudia Capitani
Amrei von Hase
Comments & Opinion06 Oct 2023
Nature Ecology & Evolution

Volume: 7, P: 1953-1956
Lentiviral gene therapy for X-linked chronic granulomatous disease

Initial results from phase I/II lentiviral gene therapy trials provide early evidence supporting its safety and efficacy in treating patients with X-linked chronic granulomatous disease.

Donald B. Kohn
Claire Booth
Adrian J. Thrasher
Research27 Jan 2020
Nature Medicine

Volume: 26, P: 200-206
Prevalence and architecture of de novo mutations in developmental disorders

Whole-exome analysis of individuals with developmental disorders shows that de novo mutations can equally cause loss or altered protein function, but that most mutations causing altered protein function have not yet been described.

Jeremy F. McRae
Stephen Clayton
Matthew E. Hurles
Research25 Jan 2017
Nature

Volume: 542, P: 433-438
Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

Lot Snijders Blok
Justine Rousseau
Philippe M. Campeau
Amendments and CorrectionsOpen Access15 Feb 2019
Nature Communications

Volume: 10, P: 1-4
Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

Lot Snijders Blok
Justine Rousseau
Philippe M. Campeau
Amendments and CorrectionsOpen Access02 May 2019
Nature Communications

Volume: 10, P: 1-4
Publisher Correction: Whole-genome sequencing of a sporadic primary immunodeficiency cohort

James E. D. Thaventhiran
Hana Lango Allen
Kenneth G. C. Smith
Amendments and Corrections17 Jul 2020
Nature

Volume: 584, P: E2
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
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

Search

Mapping the human genetic architecture of COVID-19

A second update on mapping the human genetic architecture of COVID-19

Whole-genome sequencing reveals host factors underlying critical COVID-19

CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

A long-term study of AAV gene therapy in dogs with hemophilia A identifies clonal expansions of transduced liver cells

PSMA-targeting TGFβ-insensitive armored CAR T cells in metastatic castration-resistant prostate cancer: a phase 1 trial

Distinct pathways of homologous recombination controlled by the SWS1–SWSAP1–SPIDR complex

Dissociation of tau pathology and neuronal hypometabolism within the ATN framework of Alzheimer’s disease

Identification of early neurodegenerative pathways in progressive multiple sclerosis

Synovial fluid as a complex molecular pool contributing to knee osteoarthritis

Whole-genome sequencing of a sporadic primary immunodeficiency cohort

Make global biodiversity information useful to national decision-makers

Lentiviral gene therapy for X-linked chronic granulomatous disease

Prevalence and architecture of de novo mutations in developmental disorders

Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

Publisher Correction: Whole-genome sequencing of a sporadic primary immunodeficiency cohort

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

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

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