Search Results - "Karczewski KJ"

Mechanisms linking cytoplasmic decay of translation-defective mRNA to transcriptional adaptation.

Authors: El-Brolosy MA Oak A Hoang AT et al.

Source: Science (New York, N.Y.) [Science] 2026 Feb 12; Vol. 391 (6786), pp. eaea1272. Date of Electronic Publication: 2026 Feb 12.

Publication Type: Journal Article

Journal Info: Publisher: American Association for the Advancement of Science Country of Publication: United States NLM ID: 0404511 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1095-9203 (Electronic) Linking ISSN: 00368075 NLM ISO Abbreviation: Science Subsets: MEDLINE

Alternate RNA decoding results in stable and abundant proteins in mammals.

Authors: Tsour S Machné R Leduc A et al.

Source: Nature [Nature] 2026 Jun 24. Date of Electronic Publication: 2026 Jun 24.

Publication Type: Journal Article

Journal Info: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 0410462 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-4687 (Electronic) Linking ISSN: 00280836 NLM ISO Abbreviation: Nature Subsets: MEDLINE

Rare Coding Variants Reveal Distinct Genetic Architectures Across Multidimensional Sleep Phenotypes.

Authors: Zhang Y Lu W Kunorozva L et al.

Source: MedRxiv : the preprint server for health sciences [medRxiv] 2026 Jun 18. Date of Electronic Publication: 2026 Jun 18.

Publication Type: Journal Article; Preprint

Journal Info: Country of Publication: United States NLM ID: 101767986 Publication Model: Electronic Cited Medium: Internet NLM ISO Abbreviation: medRxiv Subsets: PubMed not MEDLINE

Inference of elevated mutation rates and variant effects using 700k exomes.

Authors: Kar P Moldovan MA Guez J et al.

Source: BioRxiv : the preprint server for biology [bioRxiv] 2026 Jun 10. Date of Electronic Publication: 2026 Jun 10.

Publication Type: Journal Article; Preprint

Journal Info: Country of Publication: United States NLM ID: 101680187 Publication Model: Electronic Cited Medium: Internet ISSN: 2692-8205 (Electronic) Linking ISSN: 26928205 NLM ISO Abbreviation: bioRxiv Subsets: PubMed not MEDLINE

Meta-analysis across six global biobanks identifies recessive coding associations with complex traits and diseases.

Authors: Lassen FH Kalantzis G Eoli A et al.

Corporate Authors: Lassen FH Kalantzis G Eoli A et al.

Source: American journal of human genetics [Am J Hum Genet] 2026 Jun 04; Vol. 113 (6), pp. 1330-1346. Date of Electronic Publication: 2026 May 01.

Publication Type: Journal Article; Meta-Analysis

Journal Info: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

Mechanism of age-related accumulation of mtDNA mutations in human blood.

Authors: Gupta R Durham TJ Chau G et al.

Source: Nature [Nature] 2026 May 27. Date of Electronic Publication: 2026 May 27.

Publication Type: Journal Article

Journal Info: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 0410462 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-4687 (Electronic) Linking ISSN: 00280836 NLM ISO Abbreviation: Nature Subsets: MEDLINE

The Biobank Rare Variant consortium powers the discovery of rare genetic associations through global collaboration.

Authors: Palmer DS Hill B Hodgson S et al.

Corporate Authors: Palmer DS Hill B Hodgson S et al.

Source: MedRxiv : the preprint server for health sciences [medRxiv] 2026 May 24. Date of Electronic Publication: 2026 May 24.

Publication Type: Journal Article; Preprint

Journal Info: Country of Publication: United States NLM ID: 101767986 Publication Model: Electronic Cited Medium: Internet NLM ISO Abbreviation: medRxiv Subsets: PubMed not MEDLINE

Cell Painting for cytotoxicity and mode-of-action analysis in primary human hepatocytes.

Authors: Ewald JD Titterton KL Bäuerle A et al.

Source: Cell systems [Cell Syst] 2026 May 20; Vol. 17 (5), pp. 101566. Date of Electronic Publication: 2026 Mar 27.

Publication Type: Journal Article

Journal Info: Publisher: Cell Press Country of Publication: United States NLM ID: 101656080 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2405-4720 (Electronic) Linking ISSN: 24054712 NLM ISO Abbreviation: Cell Syst Subsets: MEDLINE

Systematic common and rare variant association testing in 392,030 whole genomes in All of Us.

Authors: Lu W Carroll RJ Solomonson M et al.

Corporate Authors: Lu W Carroll RJ Solomonson M et al.

Source: MedRxiv : the preprint server for health sciences [medRxiv] 2026 May 12. Date of Electronic Publication: 2026 May 12.

Publication Type: Journal Article; Preprint

Journal Info: Country of Publication: United States NLM ID: 101767986 Publication Model: Electronic Cited Medium: Internet NLM ISO Abbreviation: medRxiv Subsets: PubMed not MEDLINE

Identification of genetic risk loci associated with aquaporin 4-positive neuromyelitis optica spectrum disorder: a genome-wide association study.

Authors: Attfield KE Armen AP Kuttikkatte SB et al.

Corporate Authors: Attfield KE Armen AP Kuttikkatte SB et al.

Source: The Lancet. Neurology [Lancet Neurol] 2026 May; Vol. 25 (5), pp. 482-491.

Publication Type: Journal Article

Journal Info: Publisher: Lancet Pub. Group Country of Publication: England NLM ID: 101139309 Publication Model: Print Cited Medium: Internet ISSN: 1474-4465 (Electronic) Linking ISSN: 14744422 NLM ISO Abbreviation: Lancet Neurol Subsets: MEDLINE

Improved allele frequencies in gnomAD through local ancestry inference.

Authors: Kore P Wilson MW Tiao G et al.

Corporate Authors: Kore P Wilson MW Tiao G et al.

Source: Nature communications [Nat Commun] 2025 Oct 06; Vol. 16 (1), pp. 8734. Date of Electronic Publication: 2025 Oct 06.

Publication Type: Journal Article

Journal Info: Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE

Integrating 730,947 exome sequences with clinical literature improves gene discovery.

Authors: Guez J Goodrich JK Moldovan MA et al.

Corporate Authors: Guez J Goodrich JK Moldovan MA et al.

Source: MedRxiv : the preprint server for health sciences [medRxiv] 2026 Mar 25. Date of Electronic Publication: 2026 Mar 25.

Publication Type: Journal Article; Preprint

Journal Info: Country of Publication: United States NLM ID: 101767986 Publication Model: Electronic Cited Medium: Internet NLM ISO Abbreviation: medRxiv Subsets: PubMed not MEDLINE

Genome-wide association analyses of autoimmune hypothyroidism reveal autoimmune and thyroid-specific contributions and an inverse relationship with cancer risk.

Authors: Reeve MP Kanai M Graham DB et al.

Corporate Authors: Reeve MP Kanai M Graham DB et al.

Source: Nature genetics [Nat Genet] 2026 Mar; Vol. 58 (3), pp. 550-559. Date of Electronic Publication: 2026 Feb 26.

Publication Type: Journal Article; Meta-Analysis

Journal Info: Publisher: Nature Pub. Co Country of Publication: United States NLM ID: 9216904 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1546-1718 (Electronic) Linking ISSN: 10614036 NLM ISO Abbreviation: Nat Genet Subsets: MEDLINE

The scalable variant call representation: enabling genetic analysis beyond one million genomes.

Authors: Poterba T Vittal C King D et al.

Source: Bioinformatics (Oxford, England) [Bioinformatics] 2024 Dec 26; Vol. 41 (1).

Publication Type: Journal Article

Journal Info: Publisher: Oxford University Press Country of Publication: England NLM ID: 9808944 Publication Model: Print Cited Medium: Internet ISSN: 1367-4811 (Electronic) Linking ISSN: 13674803 NLM ISO Abbreviation: Bioinformatics Subsets: MEDLINE

Widespread naturally variable human exons aid genetic interpretation.

Authors: Jacobs HN Gorissen BL Guez J et al.

Source: Nature communications [Nat Commun] 2025 Dec 16; Vol. 16 (1), pp. 11345. Date of Electronic Publication: 2025 Dec 16.

Publication Type: Journal Article

Journal Info: Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE

The 9p21.3 Coronary Artery Disease Risk Locus Modulates Vascular Cell-State Transitions via Enhancer-Driven Regulation of MTAP.

Authors: Audam TN Schmandt B Huang Y et al.

Source: BioRxiv : the preprint server for biology [bioRxiv] 2025 Nov 18. Date of Electronic Publication: 2025 Nov 18.

Publication Type: Journal Article; Preprint

Journal Info: Country of Publication: United States NLM ID: 101680187 Publication Model: Electronic Cited Medium: Internet ISSN: 2692-8205 (Electronic) Linking ISSN: 26928205 NLM ISO Abbreviation: bioRxiv Subsets: PubMed not MEDLINE

Childhood Cancer Predisposition and Evolutionary Constraints: Novel Lessons from Germline Genomes from 1,127 Children with Cancer.

Authors: Stoltze UK Hansen TVO Foss-Skiftesvik J et al.

Source: Clinical cancer research : an official journal of the American Association for Cancer Research [Clin Cancer Res] 2025 Nov 03; Vol. 31 (21), pp. 4495-4509.

Publication Type: Journal Article

Journal Info: Publisher: American Association for Cancer Research Country of Publication: United States NLM ID: 9502500 Publication Model: Print Cited Medium: Internet ISSN: 1557-3265 (Electronic) Linking ISSN: 10780432 NLM ISO Abbreviation: Clin Cancer Res Subsets: MEDLINE

Pan-UK Biobank genome-wide association analyses enhance discovery and resolution of ancestry-enriched effects.

Authors: Karczewski KJ Gupta R Kanai M et al.

Source: Nature genetics [Nat Genet] 2025 Oct; Vol. 57 (10), pp. 2408-2417. Date of Electronic Publication: 2025 Sep 18.

Publication Type: Journal Article; Meta-Analysis

Journal Info: Publisher: Nature Pub. Co Country of Publication: United States NLM ID: 9216904 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1546-1718 (Electronic) Linking ISSN: 10614036 NLM ISO Abbreviation: Nat Genet Subsets: MEDLINE

Tutorial: guidelines for quality filtering of whole-exome and whole-genome sequencing data for population-scale association analyses.

Authors: Sealock JM Ivankovic F Liao C et al.

Source: Nature protocols [Nat Protoc] 2025 Sep; Vol. 20 (9), pp. 2372-2382. Date of Electronic Publication: 2025 Mar 28.

Publication Type: Journal Article; Review

Journal Info: Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101284307 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1750-2799 (Electronic) Linking ISSN: 17502799 NLM ISO Abbreviation: Nat Protoc Subsets: MEDLINE

The evolutionary impact of childhood cancer on the human gene pool.

Authors: Stoltze UK Foss-Skiftesvik J Hansen TVO et al.

Source: Nature communications [Nat Commun] 2024 Feb 29; Vol. 15 (1), pp. 1881. Date of Electronic Publication: 2024 Feb 29.

Publication Type: Journal Article

Journal Info: Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE