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Page 1
Burden of Cardiomyopathic Genetic Variation in Lethal Pediatric Myocarditis.
Kontorovich AR, Tang Y, Patel N, Georgievskaya Z, Shadrina M, Williams N, Moscati A, Peter I, Itan Y, Sampson B, Gelb BD. Kontorovich AR, et al. Among authors: moscati a. Circ Genom Precis Med. 2021 Aug;14(4):e003426. doi: 10.1161/CIRCGEN.121.003426. Epub 2021 Jul 6. Circ Genom Precis Med. 2021. PMID: 34228484 Free PMC article.
Inherited causes of clonal haematopoiesis in 97,691 whole genomes.
Bick AG, Weinstock JS, Nandakumar SK, Fulco CP, Bao EL, Zekavat SM, Szeto MD, Liao X, Leventhal MJ, Nasser J, Chang K, Laurie C, Burugula BB, Gibson CJ, Lin AE, Taub MA, Aguet F, Ardlie K, Mitchell BD, Barnes KC, Moscati A, Fornage M, Redline S, Psaty BM, Silverman EK, Weiss ST, Palmer ND, Vasan RS, Burchard EG, Kardia SLR, He J, Kaplan RC, Smith NL, Arnett DK, Schwartz DA, Correa A, de Andrade M, Guo X, Konkle BA, Custer B, Peralta JM, Gui H, Meyers DA, McGarvey ST, Chen IY, Shoemaker MB, Peyser PA, Broome JG, Gogarten SM, Wang FF, Wong Q, Montasser ME, Daya M, Kenny EE, North KE, Launer LJ, Cade BE, Bis JC, Cho MH, Lasky-Su J, Bowden DW, Cupples LA, Mak ACY, Becker LC, Smith JA, Kelly TN, Aslibekyan S, Heckbert SR, Tiwari HK, Yang IV, Heit JA, Lubitz SA, Johnsen JM, Curran JE, Wenzel SE, Weeks DE, Rao DC, Darbar D, Moon JY, Tracy RP, Buth EJ, Rafaels N, Loos RJF, Durda P, Liu Y, Hou L, Lee J, Kachroo P, Freedman BI, Levy D, Bielak LF, Hixson JE, Floyd JS, Whitsel EA, Ellinor PT, Irvin MR, Fingerlin TE, Raffield LM, Armasu SM, Wheeler MM, Sabino EC, Blangero J, Williams LK, Levy BD, Sheu WH, Roden DM, Boerwinkle E, Manson JE, Mathias RA, Desai P, Taylor KD, Johnson AD; NHL… See abstract for full author list ➔ Bick AG, et al. Among authors: moscati a. Nature. 2020 Oct;586(7831):763-768. doi: 10.1038/s41586-020-2819-2. Epub 2020 Oct 14. Nature. 2020. PMID: 33057201 Free PMC article.
Common and Rare Variant Prediction and Penetrance of IBD in a Large, Multi-ethnic, Health System-based Biobank Cohort.
Gettler K, Levantovsky R, Moscati A, Giri M, Wu Y, Hsu NY, Chuang LS, Sazonovs A, Venkateswaran S, Korie U, Chasteau C; UK IBD Genetics Consortium, National Institute of Diabetes, Digestive and Kidney Diseases Inflammatory Bowel Disease Genetics Consortium; Duerr RH, Silverberg MS, Snapper SB, Daly MJ, McGovern DP, Brant SR, Rioux JD, Kugathasan S, Anderson CA, Itan Y, Cho JH. Gettler K, et al. Among authors: moscati a. Gastroenterology. 2021 Apr;160(5):1546-1557. doi: 10.1053/j.gastro.2020.12.034. Epub 2020 Dec 24. Gastroenterology. 2021. PMID: 33359885 Free PMC article.
Inflamed Ulcerative Colitis Regions Associated With MRGPRX2-Mediated Mast Cell Degranulation and Cell Activation Modules, Defining a New Therapeutic Target.
Chen E, Chuang LS, Giri M, Villaverde N, Hsu NY, Sabic K, Joshowitz S, Gettler K, Nayar S, Chai Z, Alter IL, Chasteau CC, Korie UM, Dzedzik S, Thin TH, Jain A, Moscati A, Bongers G, Duerr RH, Silverberg MS, Brant SR, Rioux JD, Peter I, Schumm LP, Haritunians T, McGovern DP, Itan Y, Cho JH. Chen E, et al. Among authors: moscati a. Gastroenterology. 2021 Apr;160(5):1709-1724. doi: 10.1053/j.gastro.2020.12.076. Epub 2021 Jan 6. Gastroenterology. 2021. PMID: 33421512 Free PMC article.
Rare Coding Variants Associated With Electrocardiographic Intervals Identify Monogenic Arrhythmia Susceptibility Genes: A Multi-Ancestry Analysis.
Choi SH, Jurgens SJ, Haggerty CM, Hall AW, Halford JL, Morrill VN, Weng LC, Lagerman B, Mirshahi T, Pettinger M, Guo X, Lin HJ, Alonso A, Soliman EZ, Kornej J, Lin H, Moscati A, Nadkarni GN, Brody JA, Wiggins KL, Cade BE, Lee J, Austin-Tse C, Blackwell T, Chaffin MD, Lee CJ, Rehm HL, Roselli C; Regeneron Genetics Center; Redline S, Mitchell BD, Sotoodehnia N, Psaty BM, Heckbert SR, Loos RJF, Vasan RS, Benjamin EJ, Correa A, Boerwinkle E, Arking DE, Rotter JI, Rich SS, Whitsel EA, Perez M, Kooperberg C, Fornwalt BK, Lunetta KL, Ellinor PT, Lubitz SA; NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium. Choi SH, et al. Among authors: moscati a. Circ Genom Precis Med. 2021 Aug;14(4):e003300. doi: 10.1161/CIRCGEN.120.003300. Epub 2021 Jul 28. Circ Genom Precis Med. 2021. PMID: 34319147 Free PMC article.
Myopathic Cardiac Genotypes Increase Risk for Myocarditis.
Kontorovich AR, Patel N, Moscati A, Richter F, Peter I, Purevjav E, Selejan SR, Kindermann I, Towbin JA, Bohm M, Klingel K, Gelb BD. Kontorovich AR, et al. Among authors: moscati a. JACC Basic Transl Sci. 2021 Jul 26;6(7):584-592. doi: 10.1016/j.jacbts.2021.06.001. eCollection 2021 Jul. JACC Basic Transl Sci. 2021. PMID: 34368507 Free PMC article.
Genetic determinants of telomere length from 109,122 ancestrally diverse whole-genome sequences in TOPMed.
Taub MA, Conomos MP, Keener R, Iyer KR, Weinstock JS, Yanek LR, Lane J, Miller-Fleming TW, Brody JA, Raffield LM, McHugh CP, Jain D, Gogarten SM, Laurie CA, Keramati A, Arvanitis M, Smith AV, Heavner B, Barwick L, Becker LC, Bis JC, Blangero J, Bleecker ER, Burchard EG, Celedón JC, Chang YPC, Custer B, Darbar D, de Las Fuentes L, DeMeo DL, Freedman BI, Garrett ME, Gladwin MT, Heckbert SR, Hidalgo BA, Irvin MR, Islam T, Johnson WC, Kaab S, Launer L, Lee J, Liu S, Moscati A, North KE, Peyser PA, Rafaels N, Seidman C, Weeks DE, Wen F, Wheeler MM, Williams LK, Yang IV, Zhao W, Aslibekyan S, Auer PL, Bowden DW, Cade BE, Chen Z, Cho MH, Cupples LA, Curran JE, Daya M, Deka R, Eng C, Fingerlin TE, Guo X, Hou L, Hwang SJ, Johnsen JM, Kenny EE, Levin AM, Liu C, Minster RL, Naseri T, Nouraie M, Reupena MS, Sabino EC, Smith JA, Smith NL, Su JL, Taylor JG, Telen MJ, Tiwari HK, Tracy RP, White MJ, Zhang Y, Wiggins KL, Weiss ST, Vasan RS, Taylor KD, Sinner MF, Silverman EK, Shoemaker MB, Sheu WH, Sciurba F, Schwartz DA, Rotter JI, Roden D, Redline S, Raby BA, Psaty BM, Peralta JM, Palmer ND, Nekhai S, Montgomery CG, Mitchell BD, Meyers DA, McGarvey ST; NHLBI CARE Network; Mak AC, Loos RJ,… See abstract for full author list ➔ Taub MA, et al. Among authors: moscati a. Cell Genom. 2022 Jan 12;2(1):100084. doi: 10.1016/j.xgen.2021.100084. Epub 2022 Jan 13. Cell Genom. 2022. PMID: 35530816 Free PMC article.
Exome sequencing reveals a high prevalence of BRCA1 and BRCA2 founder variants in a diverse population-based biobank.
Abul-Husn NS, Soper ER, Odgis JA, Cullina S, Bobo D, Moscati A, Rodriguez JE; CBIPM Genomics Team; Regeneron Genetics Center; Loos RJF, Cho JH, Belbin GM, Suckiel SA, Kenny EE. Abul-Husn NS, et al. Among authors: moscati a. Genome Med. 2019 Dec 31;12(1):2. doi: 10.1186/s13073-019-0691-1. Genome Med. 2019. PMID: 31892343 Free PMC article.
De novo mutations across 1,465 diverse genomes reveal mutational insights and reductions in the Amish founder population.
Kessler MD, Loesch DP, Perry JA, Heard-Costa NL, Taliun D, Cade BE, Wang H, Daya M, Ziniti J, Datta S, Celedón JC, Soto-Quiros ME, Avila L, Weiss ST, Barnes K, Redline SS, Vasan RS, Johnson AD, Mathias RA, Hernandez R, Wilson JG, Nickerson DA, Abecasis G, Browning SR, Zöllner S, O'Connell JR, Mitchell BD; National Heart, Lung, and Blood Institute Trans-Omics for Precision Medicine (TOPMed) Consortium; TOPMed Population Genetics Working Group; O'Connor TD. Kessler MD, et al. Proc Natl Acad Sci U S A. 2020 Feb 4;117(5):2560-2569. doi: 10.1073/pnas.1902766117. Epub 2020 Jan 21. Proc Natl Acad Sci U S A. 2020. PMID: 31964835 Free PMC article.
74 results