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Variants in GNAI1 cause a syndrome associated with variable features including developmental delay, seizures, and hypotonia.
Muir AM, Gardner JF, van Jaarsveld RH, de Lange IM, van der Smagt JJ, Wilson GN, Dubbs H, Goldberg EM, Zitano L, Bupp C, Martinez J, Srour M, Accogli A, Alhakeem A, Meltzer M, Gropman A, Brewer C, Caswell RC, Montgomery T, McKenna C, McKee S, Powell C, Vasudevan PC, Brady AF, Joss S, Tysoe C, Noh G, Tarnopolsky M, Brady L, Zafar M, Schrier Vergano SA, Murray B, Sawyer L, Hainline BE, Sapp K, DeMarzo D, Huismann DJ, Wentzensen IM, Schnur RE, Monaghan KG, Juusola J, Rhodes L, Dobyns WB, Lecoquierre F, Goldenberg A, Polster T, Axer-Schaefer S, Platzer K, Klöckner C, Hoffman TL, MacArthur DG, O'Leary MC, VanNoy GE, England E, Varghese VC, Mefford HC. Muir AM, et al. Among authors: murray b. Genet Med. 2021 May;23(5):881-887. doi: 10.1038/s41436-020-01076-8. Epub 2021 Jan 20. Genet Med. 2021. PMID: 33473207 Free PMC article.
Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms.
Yabumoto M, Kianmahd J, Singh M, Palafox MF, Wei A, Elliott K, Goodloe DH, Dean SJ, Gooch C, Murray BK, Swartz E, Schrier Vergano SA, Towne MC, Nugent K, Roeder ER, Kresge C, Pletcher BA, Grand K, Graham JM Jr, Gates R, Gomez-Ospina N, Ramanathan S, Clark RD, Glaser K, Benke PJ, Cohen JS, Fatemi A, Mu W, Baranano KW, Madden JA, Gubbels CS, Yu TW, Agrawal PB, Chambers MK, Phornphutkul C, Pugh JA, Tauber KA, Azova S, Smith JR, O'Donnell-Luria A, Medsker H, Srivastava S, Krakow D, Schweitzer DN, Arboleda VA. Yabumoto M, et al. Among authors: murray bk. Mol Genet Genomic Med. 2021 Oct;9(10):e1809. doi: 10.1002/mgg3.1809. Epub 2021 Sep 14. Mol Genet Genomic Med. 2021. PMID: 34519438 Free PMC article.
The Specificity of Left Ventricular Bite-Like Fibrofatty Replacement for Diagnosis of Arrhythmogenic Right Ventricular Cardiomyopathy.
Umair M, Asatryan B, Aliyari Ghasabeh M, Bosman LP, Murray B, Tichnell C, Te Riele ASJM, Velthuis BK, James CA, Zimmerman SL. Umair M, et al. Among authors: murray b. JACC Cardiovasc Imaging. 2024 Apr 26:S1936-878X(24)00126-8. doi: 10.1016/j.jcmg.2024.03.011. Online ahead of print. JACC Cardiovasc Imaging. 2024. PMID: 38727643 No abstract available.
Symptoms before and after COVID-19: a population and case-control study using prospective data.
Sudre CH, Antonelli M, Cheetham NJ, Molteni E, Canas LS, Bowyer V, Murray B, Rjoob K, Modat M, Capdevila Pujol J, Hu C, Wolf J, Spector TD, Hammers A, Steves CJ, Ourselin S, Duncan EL. Sudre CH, et al. Among authors: murray b. Eur Respir J. 2024 Apr 4:2301853. doi: 10.1183/13993003.01853-2023. Online ahead of print. Eur Respir J. 2024. PMID: 38575161
1,875 results