Search Results - "Burtt NP"

Association of common variation in the HNF1alpha gene region with risk of type 2 diabetes.

Authors: Winckler W Burtt NP Holmkvist J et al.

Source: Diabetes. Aug2005, Vol. 54 Issue 8, p2336-2342. 7p.

Polymorphisms associated with cholesterol and risk of cardiovascular events.

Authors: Kathiresan S Melander O Anevski D et al.

Source: New England Journal of Medicine. 3/20/2008, Vol. 358 Issue 12, p1240-1249. 10p.

URL: 31383151

The Krüppel-like factor 11 (KLF11) Q62R polymorphism is not associated with type 2 diabetes in 8,676 people.

Authors: Florez JC Saxena R Winckler W et al.

Source: Diabetes. Dec2006, Vol. 55 Issue 12, p3620-3624. 5p.

URL: 23599315

Haplotype structures and large-scale association testing of the 5' AMP-activated protein kinase genes PRKAA2, PRKAB1, and PRKAB2 [corrected] with type 2 diabetes.

Authors: Sun MW Lee JY de Bakker PIW et al.

Source: Diabetes. Mar2006, Vol. 55 Issue 3, p849-855. 7p.

URL: 20210008

Empirically determined baseline masking strategies and other considerations for gene-level burden tests.

Authors: Nguyen T Koesterer R Haydarlou P et al.

Source: Nature genetics [Nat Genet] 2026 Jun; Vol. 58 (6), pp. 1226-1236. Date of Electronic Publication: 2026 May 08.

Publication Type: Journal Article; Systematic Review

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

Accelerating Medicines Partnership in Type 2 Diabetes and Common Metabolic Diseases: Collaborating to Maximize the Value of Genetic and Genomic Data.

Authors: Costanzo MC Akolkar B Claussnitzer M et al.

Corporate Authors: Costanzo MC Akolkar B Claussnitzer M et al.

Source: Diabetes [Diabetes] 2025 Jul 01; Vol. 74 (7), pp. 1089-1098.

Publication Type: Journal Article; Review

Journal Info: Publisher: American Diabetes Association Country of Publication: United States NLM ID: 0372763 Publication Model: Print Cited Medium: Internet ISSN: 1939-327X (Electronic) Linking ISSN: 00121797 NLM ISO Abbreviation: Diabetes Subsets: MEDLINE

The Common Fund Data Ecosystem (CFDE).

Authors: Jurgens JA Bueckle A Vora J et al.

Corporate Authors: Jurgens JA Bueckle A Vora J et al.

Source: BioRxiv : the preprint server for biology [bioRxiv] 2026 Apr 16. Date of Electronic Publication: 2026 Apr 16.

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

The Skin Genetics Consortium.

Authors: Petukhova L Dand N Watts K et al.

Source: The British journal of dermatology [Br J Dermatol] 2026 Feb 18; Vol. 194 (3), pp. 570-572.

Publication Type: Journal Article

Journal Info: Publisher: Oxford University Press Country of Publication: England NLM ID: 0004041 Publication Model: Print Cited Medium: Internet ISSN: 1365-2133 (Electronic) Linking ISSN: 00070963 NLM ISO Abbreviation: Br J Dermatol Subsets: MEDLINE; In Process

A resource of "bottom-line" variant associations for 1,281 complex traits by integrating data across published genome-wide association studies.

Authors: Nguyen T Büyükgöl F Smadbeck P et al.

Source: Research square [Res Sq] 2026 Jan 22. Date of Electronic Publication: 2026 Jan 22.

Publication Type: Journal Article; Preprint

Journal Info: Country of Publication: United States NLM ID: 101768035 Publication Model: Electronic Cited Medium: Internet ISSN: 2693-5015 (Electronic) Linking ISSN: 26935015 NLM ISO Abbreviation: Res Sq Subsets: PubMed not MEDLINE

GWASHub: An Automated Cloud-Based Platform for Genome-Wide Association Study Meta-Analysis.

Authors: Sunderland N Hite D Smadbeck P et al.

Source: MedRxiv : the preprint server for health sciences [medRxiv] 2025 Oct 23. Date of Electronic Publication: 2025 Oct 23.

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

Phenome- and genome-wide analyses of retinal optical coherence tomography images identify links between ocular and systemic health.

Authors: Zekavat SM Jorshery SD Rauscher FG et al.

Source: Science translational medicine [Sci Transl Med] 2024 Jan 24; Vol. 16 (731), pp. eadg4517. Date of Electronic Publication: 2024 Jan 24.

Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

Journal Info: Publisher: American Association for the Advancement of Science Country of Publication: United States NLM ID: 101505086 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1946-6242 (Electronic) Linking ISSN: 19466234 NLM ISO Abbreviation: Sci Transl Med Subsets: MEDLINE

Realizing the promise of genome-wide association studies for effector gene prediction.

Authors: Costanzo MC Harris LW Ji Y et al.

Source: Nature genetics [Nat Genet] 2025 Jul; Vol. 57 (7), pp. 1578-1587. Date of Electronic Publication: 2025 May 29.

Publication Type: Journal Article; Review

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

Erratum: The Neurodegenerative Disease Knowledge Portal: Propelling Discovery Through the Sharing of Neurodegenerative Disease Genomic Resources.

Authors: Dilliott AA Costanzo MC Bandres-Ciga S et al.

Source: Neurology. Genetics [Neurol Genet] 2025 Jun 03; Vol. 11 (3), pp. e200273. Date of Electronic Publication: 2025 Jun 03 (Print Publication: 2025).

Publication Type: Published Erratum

Journal Info: Publisher: Published for the American Academy of Neurology by Wolters Kluwer Country of Publication: United States NLM ID: 101671068 Publication Model: eCollection Cited Medium: Print ISSN: 2376-7839 (Print) Linking ISSN: 23767839 NLM ISO Abbreviation: Neurol Genet Subsets: PubMed not MEDLINE

Leveraging type 1 diabetes human genetic and genomic data in the T1D knowledge portal.

Authors: Kudtarkar P Costanzo MC Sun Y et al.

Source: PLoS biology [PLoS Biol] 2023 Aug 10; Vol. 21 (8), pp. e3002233. Date of Electronic Publication: 2023 Aug 10 (Print Publication: 2023).

Publication Type: Journal Article; Research Support, N.I.H., Extramural

Journal Info: Publisher: Public Library of Science Country of Publication: United States NLM ID: 101183755 Publication Model: eCollection Cited Medium: Internet ISSN: 1545-7885 (Electronic) Linking ISSN: 15449173 NLM ISO Abbreviation: PLoS Biol Subsets: MEDLINE

The Neurodegenerative Disease Knowledge Portal: Propelling Discovery Through the Sharing of Neurodegenerative Disease Genomic Resources.

Authors: Dilliott AA Costanzo MC Bandres-Ciga S et al.

Source: Neurology. Genetics [Neurol Genet] 2025 Feb 21; Vol. 11 (2), pp. e200246. Date of Electronic Publication: 2025 Feb 21 (Print Publication: 2025).

Publication Type: Journal Article; Review

Journal Info: Publisher: Published for the American Academy of Neurology by Wolters Kluwer Country of Publication: United States NLM ID: 101671068 Publication Model: eCollection Cited Medium: Print ISSN: 2376-7839 (Print) Linking ISSN: 23767839 NLM ISO Abbreviation: Neurol Genet Subsets: PubMed not MEDLINE

Mapping genomic regulation of kidney disease and traits through high-resolution and interpretable eQTLs.

Authors: Han SK McNulty MT Benway CJ et al.

Corporate Authors: Han SK McNulty MT Benway CJ et al.

Source: Nature communications [Nat Commun] 2023 Apr 19; Vol. 14 (1), pp. 2229. Date of Electronic Publication: 2023 Apr 19.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural

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

Implicating genes, pleiotropy, and sexual dimorphism at blood lipid loci through multi-ancestry meta-analysis.

Authors: Kanoni S Graham SE Wang Y et al.

Source: Genome biology [Genome Biol] 2022 Dec 27; Vol. 23 (1), pp. 268. Date of Electronic Publication: 2022 Dec 27.

Publication Type: Meta-Analysis; Journal Article; Research Support, N.I.H., Intramural; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural

Journal Info: Publisher: BioMed Central Ltd Country of Publication: England NLM ID: 100960660 Publication Model: Electronic Cited Medium: Internet ISSN: 1474-760X (Electronic) Linking ISSN: 14747596 NLM ISO Abbreviation: Genome Biol Subsets: MEDLINE

The Neurodegenerative Disease Knowledge Portal: Propelling Discovery Through the Sharing of Neurodegenerative Disease Genomic Resources.

Authors: Dilliott AA Costanzo MC Bandres-Ciga S et al.

Source: MedRxiv : the preprint server for health sciences [medRxiv] 2024 Dec 12. Date of Electronic Publication: 2024 Dec 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

Rare coding variant analysis for human diseases across biobanks and ancestries.

Authors: Jurgens SJ Wang X Choi SH et al.

Source: Nature genetics [Nat Genet] 2024 Sep; Vol. 56 (9), pp. 1811-1820. Date of Electronic Publication: 2024 Aug 29.

Publication Type: Journal Article

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

Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes.

Authors: Goodrich JK Singer-Berk M Son R et al.

Corporate Authors: Goodrich JK Singer-Berk M Son R et al.

Source: Nature communications [Nat Commun] 2021 Jun 09; Vol. 12 (1), pp. 3505. Date of Electronic Publication: 2021 Jun 09.

Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

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