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Page 1
WHOLE GENOME SEQUENCING ANALYSIS OF BODY MASS INDEX IDENTIFIES NOVEL AFRICAN ANCESTRY-SPECIFIC RISK ALLELE.
Zhang X, Brody JA, Graff M, Highland HM, Chami N, Xu H, Wang Z, Ferrier K, Chittoor G, Josyula NS, Li X, Li Z, Allison MA, Becker DM, Bielak LF, Bis JC, Boorgula MP, Bowden DW, Broome JG, Buth EJ, Carlson CS, Chang KM, Chavan S, Chiu YF, Chuang LM, Conomos MP, DeMeo DL, Du M, Duggirala R, Eng C, Fohner AE, Freedman BI, Garrett ME, Guo X, Haiman C, Heavner BD, Hidalgo B, Hixson JE, Ho YL, Hobbs BD, Hu D, Hui Q, Hwu CM, Jackson RD, Jain D, Kalyani RR, Kardia SLR, Kelly TN, Lange EM, LeNoir M, Li C, Marchand LL, McDonald MN, McHugh CP, Morrison AC, Naseri T; NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium; O'Connell J, O'Donnell CJ, Palmer ND, Pankow JS, Perry JA, Peters U, Preuss MH, Rao DC, Regan EA, Reupena SM, Roden DM, Rodriguez-Santana J, Sitlani CM, Smith JA, Tiwari HK, Vasan RS, Wang Z, Weeks DE, Wessel J, Wiggins KL, Wilkens LR, Wilson PWF, Yanek LR, Yoneda ZT, Zhao W, Zöllner S, Arnett DK, Ashley-Koch AE, Barnes KC, Blangero J, Boerwinkle E, Burchard EG, Carson AP, Chasman DI, Chen YI, Curran JE, Fornage M, Gordeuk VR, He J, Heckbert SR, Hou L, Irvin MR, Kooperberg C, Minster RL, Mitchell BD, Nouraie M, Psaty BM, Raffield LM, Reiner AP, Rich SS, Rotter J… See abstract for full author list ➔ Zhang X, et al. Among authors: hobbs bd. medRxiv [Preprint]. 2023 Aug 22:2023.08.21.23293271. doi: 10.1101/2023.08.21.23293271. medRxiv. 2023. PMID: 37662265 Free PMC article. Preprint.
Clonal haematopoiesis and risk of chronic liver disease.
Wong WJ, Emdin C, Bick AG, Zekavat SM, Niroula A, Pirruccello JP, Dichtel L, Griffin G, Uddin MM, Gibson CJ, Kovalcik V, Lin AE, McConkey ME, Vromman A, Sellar RS, Kim PG, Agrawal M, Weinstock J, Long MT, Yu B, Banerjee R, Nicholls RC, Dennis A, Kelly M, Loh PR, McCarroll S, Boerwinkle E, Vasan RS, Jaiswal S, Johnson AD, Chung RT, Corey K, Levy D, Ballantyne C; NHLBI TOPMed Hematology Working Group; Ebert BL, Natarajan P. Wong WJ, et al. Nature. 2023 Apr;616(7958):747-754. doi: 10.1038/s41586-023-05857-4. Epub 2023 Apr 12. Nature. 2023. PMID: 37046084 Free PMC article.
Genotyping, sequencing and analysis of 140,000 adults from Mexico City.
Ziyatdinov A, Torres J, Alegre-Díaz J, Backman J, Mbatchou J, Turner M, Gaynor SM, Joseph T, Zou Y, Liu D, Wade R, Staples J, Panea R, Popov A, Bai X, Balasubramanian S, Habegger L, Lanche R, Lopez A, Maxwell E, Jones M, García-Ortiz H, Ramirez-Reyes R, Santacruz-Benítez R, Nag A, Smith KR, Damask A, Lin N, Paulding C, Reppell M, Zöllner S, Jorgenson E, Salerno W, Petrovski S, Overton J, Reid J, Thornton TA, Abecasis G, Berumen J, Orozco-Orozco L, Collins R; Regeneron Genetics Center; Mexico City Prospective Study; Baras A, Hill MR, Emberson JR, Marchini J, Kuri-Morales P, Tapia-Conyer R. Ziyatdinov A, et al. Nature. 2023 Oct;622(7984):784-793. doi: 10.1038/s41586-023-06595-3. Epub 2023 Oct 11. Nature. 2023. PMID: 37821707 Free PMC article.
Genetic Association and Risk Scores in a Chronic Obstructive Pulmonary Disease Meta-analysis of 16,707 Subjects.
Busch R, Hobbs BD, Zhou J, Castaldi PJ, McGeachie MJ, Hardin ME, Hawrylkiewicz I, Sliwinski P, Yim JJ, Kim WJ, Kim DK, Agusti A, Make BJ, Crapo JD, Calverley PM, Donner CF, Lomas DA, Wouters EF, Vestbo J, Tal-Singer R, Bakke P, Gulsvik A, Litonjua AA, Sparrow D, Paré PD, Levy RD, Rennard SI, Beaty TH, Hokanson J, Silverman EK, Cho MH; National Emphysema Treatment Trial Genetics; Evaluation of COPD Longitudinally to Identify Predictive Surrogate End-Points; International COPD Genetics Network; COPDGene Investigators. Busch R, et al. Among authors: hobbs bd. Am J Respir Cell Mol Biol. 2017 Jul;57(1):35-46. doi: 10.1165/rcmb.2016-0331OC. Am J Respir Cell Mol Biol. 2017. PMID: 28170284 Free PMC article.
Rare and Common Genetic Variation Underlying Atrial Fibrillation Risk.
Vad OB, Monfort LM, Paludan-Müller C, Kahnert K, Diederichsen SZ, Andreasen L, Lotta LA, Nielsen JB, Lundby A, Svendsen JH, Olesen MS; Geisinger MyCode Community Health Initiative and the Regeneron Genetics Center (RGC) Research Team. Vad OB, et al. JAMA Cardiol. 2024 Aug 1;9(8):732-740. doi: 10.1001/jamacardio.2024.1528. JAMA Cardiol. 2024. PMID: 38922602 Free PMC article.
A large meta-analysis identifies genes associated with anterior uveitis.
Gelfman S, Moscati A, Huergo SM, Wang R, Rajagopal V, Parikshak N, Pounraja VK, Chen E, Leblanc M, Hazlewood R, Freudenberg J, Cooper B, Ligocki AJ, Miller CG, Van Zyl T, Weyne J, Romano C, Sagdullaev B, Melander O, Baras A; Regeneron Genetics Center; Stahl EA, Coppola G. Gelfman S, et al. Nat Commun. 2023 Nov 11;14(1):7300. doi: 10.1038/s41467-023-43036-1. Nat Commun. 2023. PMID: 37949852 Free PMC article.
Author Correction: Genotyping, sequencing and analysis of 140,000 adults from Mexico City.
Ziyatdinov A, Torres J, Alegre-Díaz J, Backman J, Mbatchou J, Turner M, Gaynor SM, Joseph T, Zou Y, Liu D, Wade R, Staples J, Panea R, Popov A, Bai X, Balasubramanian S, Habegger L, Lanche R, Lopez A, Maxwell E, Jones M, García-Ortiz H, Ramirez-Reyes R, Santacruz-Benítez R, Nag A, Smith KR, Damask A, Lin N, Paulding C, Reppell M, Zöllner S, Jorgenson E, Salerno W, Petrovski S, Overton J, Reid J, Thornton TA, Abecasis G, Berumen J, Orozco-Orozco L, Collins R; Regeneron Genetics Center; Mexico City Prospective Study; Baras A, Hill MR, Emberson JR, Marchini J, Kuri-Morales P, Tapia-Conyer R. Ziyatdinov A, et al. Nature. 2024 Feb;626(8001):E18. doi: 10.1038/s41586-024-07051-6. Nature. 2024. PMID: 38332034 Free PMC article. No abstract available.
A deep catalogue of protein-coding variation in 983,578 individuals.
Sun KY, Bai X, Chen S, Bao S, Zhang C, Kapoor M, Backman J, Joseph T, Maxwell E, Mitra G, Gorovits A, Mansfield A, Boutkov B, Gokhale S, Habegger L, Marcketta A, Locke AE, Ganel L, Hawes A, Kessler MD, Sharma D, Staples J, Bovijn J, Gelfman S, Di Gioia A, Rajagopal VM, Lopez A, Varela JR, Alegre-Díaz J, Berumen J, Tapia-Conyer R, Kuri-Morales P, Torres J, Emberson J, Collins R; Regeneron Genetics Center; RGC-ME Cohort Partners; Cantor M, Thornton T, Kang HM, Overton JD, Shuldiner AR, Cremona ML, Nafde M, Baras A, Abecasis G, Marchini J, Reid JG, Salerno W, Balasubramanian S. Sun KY, et al. Nature. 2024 Jul;631(8021):583-592. doi: 10.1038/s41586-024-07556-0. Epub 2024 May 20. Nature. 2024. PMID: 38768635 Free PMC article.
NOTCH3 p.Arg1231Cys is markedly enriched in South Asians and associated with stroke.
Rodriguez-Flores JL, Khalid S, Parikshak N, Rasheed A, Ye B, Kapoor M, Backman J, Sepehrband F, Gioia SAD, Gelfman S, De T, Banerjee N, Sharma D, Martinez H, Castaneda S, D'Ambrosio D, Zhang XA, Xun P, Tsai E, Tsai IC; Regeneron Genetics Center; Khan MZ, Jahanzaib M, Mian MR, Liaqat MB, Mahmood K, Salam TU, Hussain M, Iqbal J, Aslam F, Cantor MN, Tzoneva G, Overton J, Marchini J, Reid JG, Baras A, Verweij N, Lotta LA, Coppola G, Karalis K, Economides A, Fazio S, Liedtke W, Danesh J, Kamal A, Frossard P, Coleman T, Shuldiner AR, Saleheen D. Rodriguez-Flores JL, et al. Nat Commun. 2024 Sep 13;15(1):8029. doi: 10.1038/s41467-024-51819-3. Nat Commun. 2024. PMID: 39271666 Free PMC article.
Polygenic and transcriptional risk scores identify chronic obstructive pulmonary disease subtypes in the COPDGene and ECLIPSE cohort studies.
Moll M, Hecker J, Platig J, Zhang J, Ghosh AJ, Pratte KA, Wang RS, Hill D, Konigsberg IR, Chiles JW 3rd, Hersh CP, Castaldi PJ, Glass K, Dy JG, Sin DD, Tal-Singer R, Mouded M, Rennard SI, Anderson GP, Kinney GL, Bowler RP, Curtis JL, McDonald ML, Silverman EK, Hobbs BD, Cho MH. Moll M, et al. Among authors: hobbs bd. EBioMedicine. 2024 Dec;110:105429. doi: 10.1016/j.ebiom.2024.105429. Epub 2024 Nov 6. EBioMedicine. 2024. PMID: 39509750 Free PMC article.
135 results