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Page 1
GREGoR: Accelerating Genomics for Rare Diseases.
Dawood M, Heavner B, Wheeler MM, Ungar RA, LoTempio J, Wiel L, Berger S, Bernstein JA, Chong JX, Délot EC, Eichler EE, Gibbs RA, Lupski JR, Shojaie A, Talkowski ME, Wagner AH, Wei CL, Wellington C, Wheeler MT, Members GP, Carvalho CMB, Gifford CA, May S, Miller DE, Rehm HL, Sedlazeck FJ, Vilain E, O'Donnell-Luria A, Posey JE, Chadwick LH, Bamshad MJ, Montgomery SB, Diseases GRTETGOR, Consortium. Dawood M, et al. Among authors: heavner b. ArXiv [Preprint]. 2024 Dec 18:arXiv:2412.14338v1. ArXiv. 2024. PMID: 39764392 Free PMC article. Preprint.
The PRIMED Consortium: Reducing disparities in polygenic risk assessment.
Kullo IJ, Conomos MP, Nelson SC, Adebamowo SN, Choudhury A, Conti D, Fullerton SM, Gogarten SM, Heavner B, Hornsby WE, Kenny EE, Khan A, Khera AV, Li Y, Martin I, Mercader JM, Ng M, Raffield LM, Reiner A, Rowley R, Schaid D, Stilp A, Wiley K, Wilson R, Witte JS, Natarajan P; Polygenic Risk Methods in Diverse Populations (PRIMED) Consortium. Kullo IJ, et al. Among authors: heavner b. Am J Hum Genet. 2024 Dec 5;111(12):2594-2606. doi: 10.1016/j.ajhg.2024.10.010. Epub 2024 Nov 18. Am J Hum Genet. 2024. PMID: 39561770 Free PMC article.
Correction: Reproducible big data science: A case study in continuous FAIRness.
Madduri R, Chard K, D'Arcy M, Jung SC, Rodriguez A, Sulakhe D, Deutsch E, Funk C, Heavner B, Richards M, Shannon P, Glusman G, Price N, Kesselman C, Foster I. Madduri R, et al. Among authors: heavner b. PLoS One. 2023 Nov 21;18(11):e0294883. doi: 10.1371/journal.pone.0294883. eCollection 2023. PLoS One. 2023. PMID: 37988378 Free PMC article.
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: heavner 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.
Epigenome-wide DNA methylation association study of circulating IgE levels identifies novel targets for asthma.
Recto K, Kachroo P, Huan T, Van Den Berg D, Lee GY, Bui H, Lee DH, Gereige J, Yao C, Hwang SJ, Joehanes R, Weiss ST; NHLBI Trans-Omics in Precision Medicine (TOPMed) Consortium; O'Connor GT, Levy D, DeMeo DL. Recto K, et al. EBioMedicine. 2023 Sep;95:104758. doi: 10.1016/j.ebiom.2023.104758. Epub 2023 Aug 18. EBioMedicine. 2023. PMID: 37598461 Free PMC article.
Beyond the exome: What's next in diagnostic testing for Mendelian conditions.
Wojcik MH, Reuter CM, Marwaha S, Mahmoud M, Duyzend MH, Barseghyan H, Yuan B, Boone PM, Groopman EE, Délot EC, Jain D, Sanchis-Juan A; Genomics Research to Elucidate the Genetics of Rare Diseases (GREGoR) Consortium; Starita LM, Talkowski M, Montgomery SB, Bamshad MJ, Chong JX, Wheeler MT, Berger SI, O'Donnell-Luria A, Sedlazeck FJ, Miller DE. Wojcik MH, et al. Am J Hum Genet. 2023 Aug 3;110(8):1229-1248. doi: 10.1016/j.ajhg.2023.06.009. Am J Hum Genet. 2023. PMID: 37541186 Free PMC article. Review.
Author Correction: 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 Jul;619(7970):E47. doi: 10.1038/s41586-023-06375-z. Nature. 2023. PMID: 37400552 No abstract available.
Building a collaborative cloud platform to accelerate heart, lung, blood, and sleep research.
Ahalt S, Avillach P, Boyles R, Bradford K, Cox S, Davis-Dusenbery B, Grossman RL, Krishnamurthy A, Manning A, Paten B, Philippakis A, Borecki I, Chen SH, Kaltman J, Ladwa S, Schwartz C, Thomson A, Davis S, Leaf A, Lyons J, Sheets E, Bis JC, Conomos M, Culotti A, Desain T, Digiovanna J, Domazet M, Gogarten S, Gutierrez-Sacristan A, Harris T, Heavner B, Jain D, O'Connor B, Osborn K, Pillion D, Pleiness J, Rice K, Rupp G, Serret-Larmande A, Smith A, Stedman JP, Stilp A, Barsanti T, Cheadle J, Erdmann C, Farlow B, Gartland-Gray A, Hayes J, Hiles H, Kerr P, Lenhardt C, Madden T, Mieczkowska JO, Miller A, Patton P, Rathbun M, Suber S, Asare J. Ahalt S, et al. Among authors: heavner b. J Am Med Inform Assoc. 2023 Jun 20;30(7):1293-1300. doi: 10.1093/jamia/ocad048. J Am Med Inform Assoc. 2023. PMID: 37192819 Free PMC article.
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.
52 results