Nature Search

Prospective study to analyze the yield and clinical impact of trio exome sequencing in 137 Indian children with autism spectrum disorder

Shruti Bajaj
Shreya Gandhi
Anaita Udwadia Hegde
Research21 Aug 2025
Journal of Human Genetics

P: 1-14
QTL mapping of human retina DNA methylation identifies 87 gene-epigenome interactions in age-related macular degeneration

Here, the authors perform genome-wide mapping of DNA methylation and expression quantitative trait loci, revealing associations among genotype, epigenome and transcriptome, uncovering genes and gene-environment interactions contributing to age-related macular degeneration (AMD).

Jayshree Advani
Puja A. Mehta
Anand Swaroop
ResearchOpen Access04 Mar 2024
Nature Communications

Volume: 15, P: 1-20
Integrating genetic regulation and single-cell expression with GWAS prioritizes causal genes and cell types for glaucoma

The molecular and cellular causes of glaucoma are not well understood. Here, the authors integrate GWAS with genetic regulation and single cell expression from multiple eye tissues to identify genes and key cell types that affect glaucoma pathogenesis.

Andrew R. Hamel
Wenjun Yan
Ayellet V. Segrè
ResearchOpen Access09 Jan 2024
Nature Communications

Volume: 15, P: 1-25
Human SARS-CoV-2 challenge uncovers local and systemic response dynamics

A human SARS-CoV-2 challenge study in individuals without previous exposure to the virus or vaccines provides detailed profiles of local and systemic epithelial and immune cell response dynamics over time and infection status.

Rik G. H. Lindeboom
Kaylee B. Worlock
Sarah A. Teichmann
ResearchOpen Access19 Jun 2024
Nature

Volume: 631, P: 189-198
Age-specific nasal epithelial responses to SARS-CoV-2 infection

Age-specific differences upon SARS-CoV-2 infection are marked by emergence of goblet 2 inflammatory cells expressing antiviral interferon stimulating genes in paediatric nasal cultures, and basaloid-like cells with increased viral spread in cultures from older adults.

Maximillian N. J. Woodall
Ana-Maria Cujba
Claire M. Smith
ResearchOpen Access15 Apr 2024
Nature Microbiology

Volume: 9, P: 1293-1311
Local and systemic responses to SARS-CoV-2 infection in children and adults

Mechanisms explaining the milder clinical syndrome that is observed in children with SARS-CoV-2 infection.

Masahiro Yoshida
Kaylee B. Worlock
Kerstin B. Meyer
ResearchOpen Access22 Dec 2021
Nature

Volume: 602, P: 321-327
The SOD1-mediated ALS phenotype shows a decoupling between age of symptom onset and disease duration

Analysis of age of onset and disease duration in a large, international cohort of people with SOD1-ALS shows that there is a distinct phenotype and that onset and progression are decoupled.

Sarah Opie-Martin
Alfredo Iacoangeli
Christopher E. Shaw
ResearchOpen Access12 Nov 2022
Nature Communications

Volume: 13, P: 1-9
Author Correction: Age-specific nasal epithelial responses to SARS-CoV-2 infection

Maximillian N. J. Woodall
Ana-Maria Cujba
Claire M. Smith
Amendments and CorrectionsOpen Access18 Jun 2024
Nature Microbiology

Volume: 9, P: 3076
Author Correction: Human SARS-CoV-2 challenge uncovers local and systemic response dynamics

Rik G. H. Lindeboom
Kaylee B. Worlock
Sarah A. Teichmann
Amendments and CorrectionsOpen Access01 Aug 2024
Nature

Volume: 632, P: E3
Large-scale multitrait genome-wide association analyses identify hundreds of glaucoma risk loci

Multitrait genome-wide association analyses identify hundreds of risk loci for primary open-angle glaucoma. Integration with other data types highlights potential new drug targets, including proteins likely to act via the optic nerve.

Xikun Han
Puya Gharahkhani
Stuart MacGregor
ResearchOpen Access29 Jun 2023
Nature Genetics

Volume: 55, P: 1116-1125
Author Correction: The SOD1-mediated ALS phenotype shows a decoupling between age of symptom onset and disease duration

Sarah Opie-Martin
Alfredo Iacoangeli
Christopher E. Shaw
Amendments and CorrectionsOpen Access02 Jul 2024
Nature Communications

Volume: 15, P: 1-2

Search

Prospective study to analyze the yield and clinical impact of trio exome sequencing in 137 Indian children with autism spectrum disorder

QTL mapping of human retina DNA methylation identifies 87 gene-epigenome interactions in age-related macular degeneration

Integrating genetic regulation and single-cell expression with GWAS prioritizes causal genes and cell types for glaucoma

Human SARS-CoV-2 challenge uncovers local and systemic response dynamics

Age-specific nasal epithelial responses to SARS-CoV-2 infection

Local and systemic responses to SARS-CoV-2 infection in children and adults

The SOD1-mediated ALS phenotype shows a decoupling between age of symptom onset and disease duration

Author Correction: Age-specific nasal epithelial responses to SARS-CoV-2 infection

Author Correction: Human SARS-CoV-2 challenge uncovers local and systemic response dynamics

Large-scale multitrait genome-wide association analyses identify hundreds of glaucoma risk loci

Author Correction: The SOD1-mediated ALS phenotype shows a decoupling between age of symptom onset and disease duration

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