Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2017 1
2018 1
2019 1
2020 2
2021 2
2022 2
2024 2

Text availability

Article attribute

Article type

Publication date

Search Results

10 results

Results by year

Filters applied: . Clear all
Page 1
Exome sequencing and characterization of 49,960 individuals in the UK Biobank.
Van Hout CV, Tachmazidou I, Backman JD, Hoffman JD, Liu D, Pandey AK, Gonzaga-Jauregui C, Khalid S, Ye B, Banerjee N, Li AH, O'Dushlaine C, Marcketta A, Staples J, Schurmann C, Hawes A, Maxwell E, Barnard L, Lopez A, Penn J, Habegger L, Blumenfeld AL, Bai X, O'Keeffe S, Yadav A, Praveen K, Jones M, Salerno WJ, Chung WK, Surakka I, Willer CJ, Hveem K, Leader JB, Carey DJ, Ledbetter DH; Geisinger-Regeneron DiscovEHR Collaboration; Cardon L, Yancopoulos GD, Economides A, Coppola G, Shuldiner AR, Balasubramanian S, Cantor M; Regeneron Genetics Center; Nelson MR, Whittaker J, Reid JG, Marchini J, Overton JD, Scott RA, Abecasis GR, Yerges-Armstrong L, Baras A. Van Hout CV, et al. Nature. 2020 Oct;586(7831):749-756. doi: 10.1038/s41586-020-2853-0. Epub 2020 Oct 21. Nature. 2020. PMID: 33087929 Free PMC article.
Reduced penetrance of MODY-associated HNF1A/HNF4A variants but not GCK variants in clinically unselected cohorts.
Mirshahi UL, Colclough K, Wright CF, Wood AR, Beaumont RN, Tyrrell J, Laver TW, Stahl R, Golden A, Goehringer JM; Geisinger-Regeneron DiscovEHR Collaboration; Frayling TF, Hattersley AT, Carey DJ, Weedon MN, Patel KA. Mirshahi UL, et al. Am J Hum Genet. 2022 Nov 3;109(11):2018-2028. doi: 10.1016/j.ajhg.2022.09.014. Epub 2022 Oct 17. Am J Hum Genet. 2022. PMID: 36257325 Free PMC article.
A multiancestry genome-wide association study of unexplained chronic ALT elevation as a proxy for nonalcoholic fatty liver disease with histological and radiological validation.
Vujkovic M, Ramdas S, Lorenz KM, Guo X, Darlay R, Cordell HJ, He J, Gindin Y, Chung C, Myers RP, Schneider CV, Park J, Lee KM, Serper M, Carr RM, Kaplan DE, Haas ME, MacLean MT, Witschey WR, Zhu X, Tcheandjieu C, Kember RL, Kranzler HR, Verma A, Giri A, Klarin DM, Sun YV, Huang J, Huffman JE, Creasy KT, Hand NJ, Liu CT, Long MT, Yao J, Budoff M, Tan J, Li X, Lin HJ, Chen YI, Taylor KD, Chang RK, Krauss RM, Vilarinho S, Brancale J, Nielsen JB, Locke AE, Jones MB, Verweij N, Baras A, Reddy KR, Neuschwander-Tetri BA, Schwimmer JB, Sanyal AJ, Chalasani N, Ryan KA, Mitchell BD, Gill D, Wells AD, Manduchi E, Saiman Y, Mahmud N, Miller DR, Reaven PD, Phillips LS, Muralidhar S, DuVall SL, Lee JS, Assimes TL, Pyarajan S, Cho K, Edwards TL, Damrauer SM, Wilson PW, Gaziano JM, O'Donnell CJ, Khera AV, Grant SFA, Brown CD, Tsao PS, Saleheen D, Lotta LA, Bastarache L, Anstee QM, Daly AK, Meigs JB, Rotter JI, Lynch JA; Regeneron Genetics Center; Geisinger-Regeneron DiscovEHR Collaboration; EPoS Consortium; VA Million Veteran Program; Rader DJ, Voight BF, Chang KM. Vujkovic M, et al. Nat Genet. 2022 Jun;54(6):761-771. doi: 10.1038/s41588-022-01078-z. Epub 2022 Jun 2. Nat Genet. 2022. PMID: 35654975 Free PMC article.
GWAS of serum ALT and AST reveals an association of SLC30A10 Thr95Ile with hypermanganesemia symptoms.
Ward LD, Tu HC, Quenneville CB, Tsour S, Flynn-Carroll AO, Parker MM, Deaton AM, Haslett PAJ, Lotta LA, Verweij N, Ferreira MAR; Regeneron Genetics Center; Geisinger-Regeneron DiscovEHR Collaboration; Baras A, Hinkle G, Nioi P. Ward LD, et al. Nat Commun. 2021 Jul 27;12(1):4571. doi: 10.1038/s41467-021-24563-1. Nat Commun. 2021. PMID: 34315874 Free PMC article.
Applying a genetic risk score model to enhance prediction of future multiple sclerosis diagnosis at first presentation with optic neuritis.
Loginovic P, Wang F, Li J, Ferrat L, Mirshahi UL, Rao HS, Petzold A, Tyrrell J, Green HD, Weedon MN, Ganna A, Tuomi T, Carey DJ; UKBB Eye & Vision Consortium; FinnGen; Geisinger-Regeneron DiscovEHR Collaboration; Oram RA, Braithwaite T. Loginovic P, et al. Nat Commun. 2024 Feb 28;15(1):1415. doi: 10.1038/s41467-024-44917-9. Nat Commun. 2024. PMID: 38418465 Free PMC article.
Clinical and Molecular Prevalence of Lipodystrophy in an Unascertained Large Clinical Care Cohort.
Gonzaga-Jauregui C, Ge W, Staples J, Van Hout C, Yadav A, Colonie R, Leader JB, Kirchner HL, Murray MF, Reid JG, Carey DJ, Overton JD, Shuldiner AR, Gottesman O, Gao S, Gromada J, Baras A, Altarejos J; Geisinger-Regeneron DiscovEHR collaboration. Gonzaga-Jauregui C, et al. Diabetes. 2020 Feb;69(2):249-258. doi: 10.2337/db19-0447. Epub 2019 Dec 13. Diabetes. 2020. PMID: 31836692
Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program.
Klarin D, Damrauer SM, Cho K, Sun YV, Teslovich TM, Honerlaw J, Gagnon DR, DuVall SL, Li J, Peloso GM, Chaffin M, Small AM, Huang J, Tang H, Lynch JA, Ho YL, Liu DJ, Emdin CA, Li AH, Huffman JE, Lee JS, Natarajan P, Chowdhury R, Saleheen D, Vujkovic M, Baras A, Pyarajan S, Di Angelantonio E, Neale BM, Naheed A, Khera AV, Danesh J, Chang KM, Abecasis G, Willer C, Dewey FE, Carey DJ; Global Lipids Genetics Consortium; Myocardial Infarction Genetics (MIGen) Consortium; Geisinger-Regeneron DiscovEHR Collaboration; VA Million Veteran Program; Concato J, Gaziano JM, O'Donnell CJ, Tsao PS, Kathiresan S, Rader DJ, Wilson PWF, Assimes TL. Klarin D, et al. Nat Genet. 2018 Nov;50(11):1514-1523. doi: 10.1038/s41588-018-0222-9. Epub 2018 Oct 1. Nat Genet. 2018. PMID: 30275531 Free PMC article.
Integrative common and rare variant analyses provide insights into the genetic architecture of liver cirrhosis.
Ghouse J, Sveinbjörnsson G, Vujkovic M, Seidelin AS, Gellert-Kristensen H, Ahlberg G, Tragante V, Rand SA, Brancale J, Vilarinho S, Lundegaard PR, Sørensen E, Erikstrup C, Bruun MT, Jensen BA, Brunak S, Banasik K, Ullum H; DBDS Genomic Consortium; Verweij N, Lotta L, Baras A; Regeneron Genetics Center; Mirshahi T, Carey DJ; Geisinger-Regeneron DiscovEHR Collaboration; VA Million Veteran Program; Kaplan DE, Lynch J, Morgan T, Schwantes-An TH, Dochtermann DR, Pyarajan S, Tsao PS; Estonian Biobank Research Team; Laisk T, Mägi R, Kozlitina J, Tybjærg-Hansen A, Jones D, Knowlton KU, Nadauld L, Ferkingstad E, Björnsson ES, Ulfarsson MO, Sturluson Á, Sulem P, Pedersen OB, Ostrowski SR, Gudbjartsson DF, Stefansson K, Olesen MS, Chang KM, Holm H, Bundgaard H, Stender S. Ghouse J, et al. Nat Genet. 2024 Apr 17. doi: 10.1038/s41588-024-01720-y. Online ahead of print. Nat Genet. 2024. PMID: 38632349
Genome-wide association analyses for lung function and chronic obstructive pulmonary disease identify new loci and potential druggable targets.
Wain LV, Shrine N, Artigas MS, Erzurumluoglu AM, Noyvert B, Bossini-Castillo L, Obeidat M, Henry AP, Portelli MA, Hall RJ, Billington CK, Rimington TL, Fenech AG, John C, Blake T, Jackson VE, Allen RJ, Prins BP; Understanding Society Scientific Group; Campbell A, Porteous DJ, Jarvelin MR, Wielscher M, James AL, Hui J, Wareham NJ, Zhao JH, Wilson JF, Joshi PK, Stubbe B, Rawal R, Schulz H, Imboden M, Probst-Hensch NM, Karrasch S, Gieger C, Deary IJ, Harris SE, Marten J, Rudan I, Enroth S, Gyllensten U, Kerr SM, Polasek O, Kähönen M, Surakka I, Vitart V, Hayward C, Lehtimäki T, Raitakari OT, Evans DM, Henderson AJ, Pennell CE, Wang CA, Sly PD, Wan ES, Busch R, Hobbs BD, Litonjua AA, Sparrow DW, Gulsvik A, Bakke PS, Crapo JD, Beaty TH, Hansel NN, Mathias RA, Ruczinski I, Barnes KC, Bossé Y, Joubert P, van den Berge M, Brandsma CA, Paré PD, Sin DD, Nickle DC, Hao K, Gottesman O, Dewey FE, Bruse SE, Carey DJ, Kirchner HL; Geisinger-Regeneron DiscovEHR Collaboration; Jonsson S, Thorleifsson G, Jonsdottir I, Gislason T, Stefansson K, Schurmann C, Nadkarni G, Bottinger EP, Loos RJ, Walters RG, Chen Z, Millwood IY, Vaucher J, Kurmi OP, Li L, Hansell AL, Brightling C, Zeggini E, Cho MH, Silv… See abstract for full author list ➔ Wain LV, et al. Nat Genet. 2017 Mar;49(3):416-425. doi: 10.1038/ng.3787. Epub 2017 Feb 6. Nat Genet. 2017. PMID: 28166213 Free PMC article.