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Page 1
Zoster-Associated Prothrombotic Plasma Exosomes and Increased Stroke Risk.
Bubak AN, Coughlan C, Posey J, Saviola AJ, Niemeyer CS, Lewis SWR, Lopez SB, Solano A, Tyring SK, Delaney C, Neeves KB, Mahalingam R, Hansen KC, Nagel MA. Bubak AN, et al. Among authors: posey j. J Infect Dis. 2023 Apr 18;227(8):993-1001. doi: 10.1093/infdis/jiac405. J Infect Dis. 2023. PMID: 36200236 Free PMC article.
Platelet activation contributes to hypoxia-induced inflammation.
Delaney C, Davizon-Castillo P, Allawzi A, Posey J, Gandjeva A, Neeves K, Tuder RM, Di Paola J, Stenmark KR, Nozik ES. Delaney C, et al. Among authors: posey j. Am J Physiol Lung Cell Mol Physiol. 2021 Mar 1;320(3):L413-L421. doi: 10.1152/ajplung.00519.2020. Epub 2020 Dec 2. Am J Physiol Lung Cell Mol Physiol. 2021. PMID: 33264579 Free PMC article.
Implementing Evidence-Based Assertions of Clinical Actionability in the Context of Secondary Findings: Updates from the ClinGen Actionability Working Group.
Pak CM, Gilmore MJ, Bulkley JE, Chakraborty P, Dagan-Rosenfeld O, Foreman AKM, Gollob MH, Jenkins CL, Katz AE, Lee K, Meeks N, O'Daniel JM, Posey JE, Rego SM, Shah N, Steiner RD, Stergachis AB, Subramanian SL, Trotter T, Wallace K, Williams MS, Goddard KAB, Buchanan AH, Manickam K, Powell B, Ezzell Hunter J; ClinGen Resource. Pak CM, et al. Among authors: posey je. Genet Med. 2024 May 14:101164. doi: 10.1016/j.gim.2024.101164. Online ahead of print. Genet Med. 2024. PMID: 38757444
Exome sequencing implicates ancestry-related Mendelian variation at SYNE1 in childhood-onset essential hypertension.
Copeland I, Wonkam-Tingang E, Gupta-Malhotra M, Hashmi SS, Han Y, Jajoo A, Hall NJ, Hernandez PP, Lie N, Liu D, Xu J, Rosenfeld J, Haldipur A, Desire Z, Coban-Akdemir ZH, Scott DA, Li Q, Chao HT, Zaske AM, Lupski JR, Milewicz DM, Shete S, Posey JE, Hanchard NA. Copeland I, et al. Among authors: posey je. JCI Insight. 2024 May 8;9(9):e172152. doi: 10.1172/jci.insight.172152. JCI Insight. 2024. PMID: 38716726 Free article.
Core planar cell polarity genes VANGL1 and VANGL2 in predisposition to congenital vertebral malformations.
Feng X, Ye Y, Zhang J, Zhang Y, Zhao S, Mak JCW, Otomo N, Zhao Z, Niu Y, Yonezawa Y, Li G, Lin M, Li X, Cheung PWH, Xu K, Takeda K, Wang S, Xie J, Kotani T, Choi VNT, Song YQ, Yang Y, Luk KDK, Lee KS, Li Z, Li PS, Leung CYH, Lin X, Wang X, Qiu G; DISCO (Deciphering disorders Involving Scoliosis and COmorbidities) study group; Watanabe K; Japanese Early Onset Scoliosis Research Group; Wu Z, Posey JE, Ikegawa S, Lupski JR, Cheung JPY, Zhang TJ, Gao B, Wu N. Feng X, et al. Among authors: posey je. Proc Natl Acad Sci U S A. 2024 Apr 30;121(18):e2310283121. doi: 10.1073/pnas.2310283121. Epub 2024 Apr 26. Proc Natl Acad Sci U S A. 2024. PMID: 38669183
Defining and Reducing Variant Classification Disparities.
Dawood M, Fayer S, Pendyala S, Post M, Kalra D, Patterson K, Venner E, Muffley LA, Fowler DM, Rubin AF, Posey JE, Plon SE, Lupski JR, Gibbs RA, Starita LM, Robles-Espinoza CD, Coyote-Maestas W, Gallego Romero I. Dawood M, et al. Among authors: posey je. medRxiv [Preprint]. 2024 Apr 12:2024.04.11.24305690. doi: 10.1101/2024.04.11.24305690. medRxiv. 2024. PMID: 38645101 Free PMC article. Preprint.
NODAL variants are associated with a continuum of laterality defects from simple D-transposition of the great arteries to heterotaxy.
Dardas Z, Fatih JM, Jolly A, Dawood M, Du H, Grochowski CM, Jones EG, Jhangiani SN, Wehrens XHT, Liu P, Bi W, Boerwinkle E, Posey JE, Muzny DM, Gibbs RA, Lupski JR, Coban-Akdemir Z, Morris SA. Dardas Z, et al. Among authors: posey je. Genome Med. 2024 Apr 3;16(1):53. doi: 10.1186/s13073-024-01312-9. Genome Med. 2024. PMID: 38570875 Free PMC article.
407 results