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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.
Performance of ARVC Risk Calculators in (Likely) Pathogenic Plakophilin-2 Variant Carriers Without Definite ARVC Diagnosis.
Muller SA, Asatryan B, Murray B, Tichnell C, Cox MGPJ, Amin AS, Yap SC, Gasperetti A, Carrick RT, Cadrin-Tourigny J, Oerlemans MIFJ, Calkins H, van Tintelen JP, James CA, Te Riele ASJM. Muller SA, et al. Among authors: murray b. Circ Arrhythm Electrophysiol. 2024 Dec 13:e013144. doi: 10.1161/CIRCEP.124.013144. Online ahead of print. Circ Arrhythm Electrophysiol. 2024. PMID: 39670315 No abstract available.
Impaired Atrial and Ventricular Strain Predicts Heart Failure in Arrhythmogenic Right Ventricular Cardiomyopathy.
Jacquemyn X, Van den Eynde J, Zhan J, Doshi AN, Ravekes WJ, Gilotra NA, Scheel P, Wu KC, Gasperetti A, James CA, Calkins H, Murray B, Tichnell C, Hays AG, Kutty S. Jacquemyn X, et al. Among authors: murray b. Can J Cardiol. 2024 Nov 29:S0828-282X(24)01228-5. doi: 10.1016/j.cjca.2024.11.024. Online ahead of print. Can J Cardiol. 2024. PMID: 39617050
DOC screen completion time reflects executive function, speed of processing and fluency.
Sujanthan S, Southwell A, Armel T, Xing E, Kapoor A, Liu XYE, Lanctot KL, Herrmann N, Murray BJ, Thorpe KE, Cayley ML, Sicard MN, Lien K, Sahlas DJ, Swartz RH. Sujanthan S, et al. Among authors: murray bj. Can J Neurol Sci. 2024 Nov 21:1-21. doi: 10.1017/cjn.2024.303. Online ahead of print. Can J Neurol Sci. 2024. PMID: 39568224 No abstract available.
1,925 results