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Improving fine-mapping by modeling infinitesimal effects

Peer-reviewed
DOI
10.1038/s41588-023-01597-3
Cui, Ran; Elzur, Roy A.; Kanai, Masahiro; Ulirsch, Jacob C.; Weissbrod, Omer; Daly, Mark J.; Neale, ...
Nature Genetics2024Publications information icon

Inferring compound heterozygosity from large-scale exome sequencing data

Peer-reviewed
DOI
10.1038/s41588-023-01608-3
gnomAD Project Consortium; Guo, Michael H.; Francioli, Laurent C.; Stenton, Sarah L.; Goodrich, Juli...
Nature genetics2024Publications information icon

Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy

Peer-reviewed
Open access
DOI
10.1038/s41588-023-01651-0
Töpf, Ana; Cox, Dan; Zaharieva, Irina T.; Di Leo, Valeria; Sarparanta, Jaakko; Jonson, Per Harald; S...
Nature Genetics2024Publications information icon

APOBEC mutagenesis is a common process in normal human small intestine

Peer-reviewed
Open access
DOI
10.1038/s41588-022-01296-5
Wang, Yichen; Robinson, Philip S.; Coorens, Tim H. H.; Moore, Luiza; Lee-Six, Henry; Noorani, Ayesha...
Nature Genetics2023Publications information icon

The impact of rare protein coding genetic variation on adult cognitive function

Peer-reviewed
Open access
DOI
10.1038/s41588-023-01398-8
Chen, Chia-Yen; Tian, Ruoyu; Ge, Tian; Lam, Max; Sanchez-Andrade, Gabriela; Singh, Tarjinder; Urpa, ...
Nature Genetics2023Publications information icon

Multi-ancestry genome-wide association analyses improve resolution of genes and pathways influencing lung function and chronic obstructive pulmonary disease risk

Peer-reviewed
Open access
DOI
10.1038/s41588-023-01314-0
Shrine, Nick; Izquierdo, Abril G.; Chen, Jing; Packer, Richard; Hall, Robert J.; Guyatt, Anna L.; Ba...
Nature genetics2023Publications information icon

Genetic architecture of the inflammatory bowel diseases across East Asian and European ancestries

Peer-reviewed
Open access
DOI
10.1038/s41588-023-01384-0
International Inflammatory Bowel Disease Genetics Consortium; Chinese Inflammatory Bowel Disease Gen...
Nature Genetics2023Publications information icon

Genome-wide analyses of ADHD identify 27 risk loci, refine the genetic architecture and implicate several cognitive domains

Peer-reviewed
Open access
DOI
10.1038/s41588-022-01285-8
ADHD Working Group of the Psychiatric Genomics Consortium; iPSYCH-Broad Consortium; Demontis, Ditte;...
Nature Genetics2023Publications information icon

Schizophrenia risk conferred by rare protein-truncating variants is conserved across diverse human populations

Peer-reviewed
Open access
DOI
10.1038/s41588-023-01305-1
Liu, Dongjing; Meyer, Dara; Fennessy, Brian; Feng, Claudia; Cheng, Esther; Johnson, Jessica; Park, Y...
Nature Genetics2023Publications information icon

Genome-wide association study and functional characterization identifies candidate genes for insulin-stimulated glucose uptake

Peer-reviewed
Open access
DOI
10.1038/s41588-023-01408-9
Williamson, Alice; Norris, Dougall M.; Yin, Xianyong; Broadaway, K. Alaine; Moxley, Anne H.; Vadlamu...
Nature genetics2023

Improving fine-mapping by modeling infinitesimal effects

Peer-reviewed
DOI
10.1038/s41588-023-01597-3
2024

Inferring compound heterozygosity from large-scale exome sequencing data

Peer-reviewed
DOI
10.1038/s41588-023-01608-3
2024

Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy

Peer-reviewed
Open access
DOI
10.1038/s41588-023-01651-0
2024

APOBEC mutagenesis is a common process in normal human small intestine

Peer-reviewed
Open access
DOI
10.1038/s41588-022-01296-5
2023

The impact of rare protein coding genetic variation on adult cognitive function

Peer-reviewed
Open access
DOI
10.1038/s41588-023-01398-8
2023

Multi-ancestry genome-wide association analyses improve resolution of genes and pathways influencing lung function and chronic obstructive pulmonary disease risk

Peer-reviewed
Open access
DOI
10.1038/s41588-023-01314-0
2023

Genetic architecture of the inflammatory bowel diseases across East Asian and European ancestries

Peer-reviewed
Open access
DOI
10.1038/s41588-023-01384-0
2023

Genome-wide analyses of ADHD identify 27 risk loci, refine the genetic architecture and implicate several cognitive domains

Peer-reviewed
Open access
DOI
10.1038/s41588-022-01285-8
2023

Schizophrenia risk conferred by rare protein-truncating variants is conserved across diverse human populations

Peer-reviewed
Open access
DOI
10.1038/s41588-023-01305-1
2023

Genome-wide association study and functional characterization identifies candidate genes for insulin-stimulated glucose uptake

Peer-reviewed
Open access
DOI
10.1038/s41588-023-01408-9
2023