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1,848 results

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Page 1
Quantitative metrics of the LV trabeculated layer by cardiac CT and cardiac MRI in patients with suspected noncompaction cardiomyopathy.
Manohar A, Vigneault DM, Kwon DH, Caliskan K, Budde RPJ, Hirsch A, Lee SP, Lee W, Owens A, Litt H, Haddad F, Mistelbauer G, Wheeler M, Rubin D, Tang WHW, Nieman K. Manohar A, et al. Among authors: wheeler m. Eur Radiol. 2023 Dec 19. doi: 10.1007/s00330-023-10526-1. Online ahead of print. Eur Radiol. 2023. PMID: 38114847
Progression through return-to-sport and return-to-academics guidelines for concussion management and recovery in collegiate student athletes: findings from the Ivy League-Big Ten Epidemiology of Concussion Study.
Wiebe DJ, Bretzin AC, D'Alonzo BA; and the Ivy League–Big Ten Epidemiology of Concussion Study Investigators. Wiebe DJ, et al. Br J Sports Med. 2022 Jul;56(14):801-811. doi: 10.1136/bjsports-2021-104451. Epub 2022 Apr 20. Br J Sports Med. 2022. PMID: 35444018 Free PMC article.
Author Correction: The frequency of pathogenic variation in the All of Us cohort reveals ancestry-driven disparities.
Venner E, Patterson K, Kalra D, Wheeler MM, Chen YJ, Kalla SE, Yuan B, Karnes JH, Walker K, Smith JD, McGee S, Radhakrishnan A, Haddad A, Empey PE, Wang Q, Lichtenstein L, Toledo D, Jarvik G, Musick A, Gibbs RA; All of Us Research Program Investigators. Venner E, et al. Among authors: wheeler mm. Commun Biol. 2024 Jun 10;7(1):713. doi: 10.1038/s42003-024-06408-x. Commun Biol. 2024. PMID: 38858496 Free PMC article. No abstract available.
Impact of genome build on RNA-seq interpretation and diagnostics.
Ungar RA, Goddard PC, Jensen TD, Degalez F, Smith KS, Jin CA; Undiagnosed Diseases Network; Bonner DE, Bernstein JA, Wheeler MT, Montgomery SB. Ungar RA, et al. Among authors: wheeler mt. Am J Hum Genet. 2024 May 31:S0002-9297(24)00168-X. doi: 10.1016/j.ajhg.2024.05.005. Online ahead of print. Am J Hum Genet. 2024. PMID: 38834072
Biallelic variants in CSMD1 are implicated in a neurodevelopmental disorder with intellectual disability and variable cortical malformations.
Werren EA, Peirent ER, Jantti H, Guxholli A, Srivastava KR, Orenstein N, Narayanan V, Wiszniewski W, Dawidziuk M, Gawlinski P, Umair M, Khan A, Khan SN, Geneviève D, Lehalle D, van Gassen KLI, Giltay JC, Oegema R, van Jaarsveld RH, Rafiullah R, Rappold GA, Rabin R, Pappas JG, Wheeler MM, Bamshad MJ, Tsan YC, Johnson MB, Keegan CE, Srivastava A, Bielas SL. Werren EA, et al. Among authors: wheeler mm. Cell Death Dis. 2024 May 30;15(5):379. doi: 10.1038/s41419-024-06768-6. Cell Death Dis. 2024. PMID: 38816421 Free PMC article.
Large-scale mutational analysis identifies UNC93B1 variants that drive TLR-mediated autoimmunity in mice and humans.
Rael VE, Yano JA, Huizar JP, Slayden LC, Weiss MA, Turcotte EA, Terry JM, Zuo W, Thiffault I, Pastinen T, Farrow EG, Jenkins JL, Becker ML, Wong SC, Stevens AM, Otten C, Allenspach EJ, Bonner DE, Bernstein JA, Wheeler MT, Saxton RA; Undiagnosed Diseases Network; Liu B, Majer O, Barton GM. Rael VE, et al. Among authors: wheeler mt. J Exp Med. 2024 Aug 5;221(8):e20232005. doi: 10.1084/jem.20232005. Epub 2024 May 23. J Exp Med. 2024. PMID: 38780621 Free PMC article.
Loss of function of FAM177A1, a Golgi complex localized protein, causes a novel neurodevelopmental disorder.
Kohler JN, Legro NR, Baldridge D, Shin J, Bowman A, Ugur B, Jackstadt MM, Shriver LP, Patti GJ, Zhang B, Feng W, McAdow AR, Goddard P, Ungar RA, Jensen T, Smith KS, Fresard L, Alvarez R, Bonner D, Reuter CM, McCormack C, Kravets E, Marwaha S, Holt JM; Undiagnosed Diseases Network; Worthey E, Ashley EA, Montgomery SB, Fisher P, Postlethwait J, De Camilli P, Solnica-Krezel L, Bernstein JA, Wheeler MT. Kohler JN, et al. Among authors: wheeler mt. Genet Med. 2024 May 16:101166. doi: 10.1016/j.gim.2024.101166. Online ahead of print. Genet Med. 2024. PMID: 38767059
Aficamten for Symptomatic Obstructive Hypertrophic Cardiomyopathy.
Maron MS, Masri A, Nassif ME, Barriales-Villa R, Arad M, Cardim N, Choudhury L, Claggett B, Coats CJ, Düngen HD, Garcia-Pavia P, Hagège AA, Januzzi JL, Lee MMY, Lewis GD, Ma CS, Michels M, Olivotto I, Oreziak A, Owens AT, Spertus JA, Solomon SD, Tfelt-Hansen J, van Sinttruije M, Veselka J, Watkins H, Jacoby DL, Heitner SB, Kupfer S, Malik FI, Meng L, Wohltman A, Abraham TP; SEQUOIA-HCM Investigators. Maron MS, et al. N Engl J Med. 2024 May 30;390(20):1849-1861. doi: 10.1056/NEJMoa2401424. Epub 2024 May 13. N Engl J Med. 2024. PMID: 38739079 Clinical Trial.
1,848 results