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Page 1
De novo variants in genes regulating stress granule assembly associate with neurodevelopmental disorders.
Jia X, Zhang S, Tan S, Du B, He M, Qin H, Chen J, Duan X, Luo J, Chen F, Ouyang L, Wang J, Chen G, Yu B, Zhang G, Zhang Z, Lyu Y, Huang Y, Jiao J, Chen JYH, Swoboda KJ, Agolini E, Novelli A, Leoni C, Zampino G, Cappuccio G, Brunetti-Pierri N, Gerard B, Ginglinger E, Richer J, McMillan H, White-Brown A, Hoekzema K, Bernier RA, Kurtz-Nelson EC, Earl RK, Meddens C, Alders M, Fuchs M, Caumes R, Brunelle P, Smol T, Kuehl R, Day-Salvatore DL, Monaghan KG, Morrow MM, Eichler EE, Hu Z, Yuan L, Tan J, Xia K, Shen Y, Guo H. Jia X, et al. Among authors: chen jyh. Sci Adv. 2022 Aug 19;8(33):eabo7112. doi: 10.1126/sciadv.abo7112. Epub 2022 Aug 17. Sci Adv. 2022. PMID: 35977029 Free PMC article.
Massachusetts' Findings from Statewide Newborn Screening for Spinal Muscular Atrophy.
Hale JE, Darras BT, Swoboda KJ, Estrella E, Chen JYH, Abbott MA, Hay BN, Kumar B, Counihan AM, Gerstel-Thompson J, Sahai I, Eaton RB, Comeau AM. Hale JE, et al. Among authors: chen jyh. Int J Neonatal Screen. 2021 May 23;7(2):26. doi: 10.3390/ijns7020026. Int J Neonatal Screen. 2021. PMID: 34071063 Free PMC article.
Population-Based Screening of Newborns: Findings From the NBS Expansion Study (Part One).
Brower A, Chan K, Williams M, Berry S, Currier R, Rinaldo P, Caggana M, Gaviglio A, Wilcox W, Steiner R, Holm IA, Taylor J, Orsini JJ, Brunelli L, Adelberg J, Bodamer O, Viall S, Scharfe C, Wasserstein M, Chen JY, Escolar M, Goldenberg A, Swoboda K, Ficicioglu C, Matern D, Lee R, Watson M. Brower A, et al. Front Genet. 2022 Jul 22;13:867337. doi: 10.3389/fgene.2022.867337. eCollection 2022. Front Genet. 2022. PMID: 35938011 Free PMC article.
Gerstmann-Sträussler-Scheinker Disease Presenting as Late-Onset Slowly Progressive Spinocerebellar Ataxia, and Comparative Case Series with Neuropathology.
Stephen CD, de Gusmao CM, Srinivasan SR, Olsen A, Freua F, Kok F, Montes Garcia Barbosa R, Chen JYH, Appleby BS, Prior T, Frosch MP, Schmahmann JD. Stephen CD, et al. Among authors: chen jyh. Mov Disord Clin Pract. 2024 Apr;11(4):411-423. doi: 10.1002/mdc3.13976. Epub 2024 Jan 23. Mov Disord Clin Pract. 2024. PMID: 38258626
Patterns of oral anticoagulant use and outcomes in Asian patients with atrial fibrillation: a post-hoc analysis from the GLORIA-AF Registry.
Romiti GF, Corica B, Proietti M, Mei DA, Frydenlund J, Bisson A, Boriani G, Olshansky B, Chan YH, Huisman MV, Chao TF, Lip GYH; GLORIA-AF Investigators. Romiti GF, et al. EClinicalMedicine. 2023 Aug 25;63:102039. doi: 10.1016/j.eclinm.2023.102039. eCollection 2023 Sep. EClinicalMedicine. 2023. PMID: 37753446 Free PMC article.
Truncating Variants in RFC1 in Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome.
Ronco R, Perini C, Currò R, Dominik N, Facchini S, Gennari A, Simone R, Stuart S, Nagy S, Vegezzi E, Quartesan I, El-Saddig A, Lavin T, Tucci A, Szymura A, Novis De Farias LE, Gary A, Delfeld M, Kandikatla P, Niu N, Tawde S, Shaw J, Polke J, Reilly MM, Wood NW, Crespan E, Gomez C, Chen JYH, Schmahmann JD, Gosal D, Houlden H, Das S, Cortese A. Ronco R, et al. Among authors: chen jyh. Neurology. 2023 Jan 31;100(5):e543-e554. doi: 10.1212/WNL.0000000000201486. Epub 2022 Oct 26. Neurology. 2023. PMID: 36289003 Free PMC article.
Correction to: Comparative effectiveness and safety of non-vitamin K antagonists for atrial fibrillation in clinical practice: GLORIA-AF Registry.
Lip GYH, Kotalczyk A, Teutsch C, Diener HC, Dubner SJ, Halperin JL, Ma CS, Rothman KJ, Marler S, Gurusamy VK, Huisman MV; GLORIA-AF Investigators. Lip GYH, et al. Clin Res Cardiol. 2022 May;111(5):593. doi: 10.1007/s00392-022-02021-2. Clin Res Cardiol. 2022. PMID: 35384487 Free PMC article. No abstract available.
31 results