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Page 1
Unsupervised representation learning improves genomic discovery and risk prediction for respiratory and circulatory functions and diseases.
Yun T, Cosentino J, Behsaz B, McCaw ZR, Hill D, Luben R, Lai D, Bates J, Yang H, Schwantes-An TH, Zhou Y, Khawaja AP, Carroll A, Hobbs BD, Cho MH, McLean CY, Hormozdiari F. Yun T, et al. medRxiv [Preprint]. 2023 Aug 29:2023.04.28.23289285. doi: 10.1101/2023.04.28.23289285. medRxiv. 2023. PMID: 37163049 Free PMC article. Preprint.
Utilizing multimodal AI to improve genetic analyses of cardiovascular traits.
Zhou Y, Cosentino J, Yun T, Biradar MI, Shreibati J, Lai D, Schwantes-An TH, Luben R, McCaw Z, Engmann J, Providencia R, Schmidt AF, Munroe P, Yang H, Carroll A, Khawaja AP, McLean CY, Behsaz B, Hormozdiari F. Zhou Y, et al. Among authors: schwantes an th. medRxiv [Preprint]. 2024 Mar 20:2024.03.19.24304547. doi: 10.1101/2024.03.19.24304547. medRxiv. 2024. PMID: 38562791 Free PMC article. Preprint.
Providing genetic testing and genetic counseling for Parkinson's disease to the community.
Cook L, Verbrugge J, Schwantes-An TH, Schulze J, Beck JC, Naito A, Hall A, Chan AK, Casaceli CJ, Marder K, Nance M, Schwarzschild MA, Simuni T, Wills AM, Alcalay RN; Parkinson’s Foundation and Parkinson's Study Group (PSG). Cook L, et al. Genet Med. 2023 Oct;25(10):100907. doi: 10.1016/j.gim.2023.100907. Epub 2023 Jun 8. Genet Med. 2023. PMID: 37302021 Free article. Clinical Trial.
Reduction of APOE accounts for neurobehavioral deficits in fetal alcohol spectrum disorders.
Hwang HM, Yamashita S, Matsumoto Y, Ito M, Edwards A, Sasaki J, Dutta DJ, Mohammad S, Yamashita C, Wetherill L, Schwantes-An TH, Abreu M, Mahnke AH, Mattson SN, Foroud T, Miranda RC, Chambers C, Torii M, Hashimoto-Torii K. Hwang HM, et al. Among authors: schwantes an th. Mol Psychiatry. 2024 May 11. doi: 10.1038/s41380-024-02586-6. Online ahead of print. Mol Psychiatry. 2024. PMID: 38734844
A polygenic risk score for alcohol-associated cirrhosis among heavy drinkers with European ancestry.
Schwantes-An TH, Whitfield JB, Aithal GP, Atkinson SR, Bataller R, Botwin G, Chalasani NP, Cordell HJ, Daly AK, Darlay R, Day CP, Eyer F, Foroud T, Gawrieh S, Gleeson D, Goldman D, Haber PS, Jacquet JM, Lammert CS, Liang T, Liangpunsakul S, Masson S, Mathurin P, Moirand R, McQuillin A, Moreno C, Morgan MY, Mueller S, Müllhaupt B, Nagy LE, Nahon P, Nalpas B, Naveau S, Perney P, Pirmohamed M, Seitz HK, Soyka M, Stickel F, Thompson A, Thursz MR, Trépo E, Morgan TR, Seth D; GenomALC Consortium. Schwantes-An TH, et al. Hepatol Commun. 2024 May 10;8(6):e0431. doi: 10.1097/HC9.0000000000000431. eCollection 2024 Jun 1. Hepatol Commun. 2024. PMID: 38727677 Free PMC article.
Deficiency of the Deubiquitinase UCHL1 Attenuates Pulmonary Arterial Hypertension.
Tang H, Gupta A, Morrisroe SA, Bao C, Schwantes-An TH, Gupta G, Liang S, Sun Y, Chu A, Luo A, Ramamoorthi Elangovan V, Sangam S, Shi Y, Naidu SR, Jheng JR, Ciftci-Yilmaz S, Warfel NA, Hecker L, Mitra S, Coleman AW, Lutz KA, Pauciulo MW, Lai YC, Javaheri A, Dharmakumar R, Wu WH, Flaherty DP, Karnes JH, Breuils-Bonnet S, Boucherat O, Bonnet S, Yuan JX, Jacobson JR, Duarte JD, Nichols WC, Garcia JGN, Desai AA. Tang H, et al. Among authors: schwantes an th. Circulation. 2024 May 2. doi: 10.1161/CIRCULATIONAHA.123.065304. Online ahead of print. Circulation. 2024. PMID: 38695173
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. Among authors: schwantes an th. Nat Genet. 2024 May;56(5):827-837. doi: 10.1038/s41588-024-01720-y. Epub 2024 Apr 17. Nat Genet. 2024. PMID: 38632349 Free PMC article.
Genetic regulation and targeted reversal of lysosomal dysfunction and inflammatory sterol metabolism in pulmonary arterial hypertension.
Harvey LD, Alotaibi M, Kim HJ, Tai YY, Tang Y, Sun W, El Khoury W, Woodcock CC, Aaraj YA, St Croix CM, Stolz DB, Lee J, Cheng MH, Schwantes-An TH, Desai AA, Pauciulo MW, Nichols WC, Webb A, Lafyatis R, Nouraie M, Wu H, McDonald JG, Chauvet C, Cheng S, Bahar I, Bertero T, Benza RL, Jain M, Chan SY. Harvey LD, et al. Among authors: schwantes an th. bioRxiv [Preprint]. 2024 Mar 1:2024.02.26.582142. doi: 10.1101/2024.02.26.582142. bioRxiv. 2024. PMID: 38464060 Free PMC article. Preprint.
Allele-specific control of rodent and human lncRNA KMT2E-AS1 promotes hypoxic endothelial pathology in pulmonary hypertension.
Tai YY, Yu Q, Tang Y, Sun W, Kelly NJ, Okawa S, Zhao J, Schwantes-An TH, Lacoux C, Torrino S, Al Aaraj Y, El Khoury W, Negi V, Liu M, Corey CG, Belmonte F, Vargas SO, Schwartz B, Bhat B, Chau BN, Karnes JH, Satoh T, Barndt RJ, Wu H, Parikh VN, Wang J, Zhang Y, McNamara D, Li G, Speyer G, Wang B, Shiva S, Kaufman B, Kim S, Gomez D, Mari B, Cho MH, Boueiz A, Pauciulo MW, Southgate L, Trembath RC, Sitbon O, Humbert M, Graf S, Morrell NW, Rhodes CJ, Wilkins MR, Nouraie M, Nichols WC, Desai AA, Bertero T, Chan SY. Tai YY, et al. Among authors: schwantes an th. Sci Transl Med. 2024 Jan 10;16(729):eadd2029. doi: 10.1126/scitranslmed.add2029. Epub 2024 Jan 10. Sci Transl Med. 2024. PMID: 38198571 Free PMC article.
55 results