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Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen's Inherited Cardiomyopathy Expert Panel.
Kelly MA, Caleshu C, Morales A, Buchan J, Wolf Z, Harrison SM, Cook S, Dillon MW, Garcia J, Haverfield E, Jongbloed JDH, Macaya D, Manrai A, Orland K, Richard G, Spoonamore K, Thomas M, Thomson K, Vincent LM, Walsh R, Watkins H, Whiffin N, Ingles J, van Tintelen JP, Semsarian C, Ware JS, Hershberger R, Funke B. Kelly MA, et al. Among authors: thomas m. Genet Med. 2018 Mar;20(3):351-359. doi: 10.1038/gim.2017.218. Epub 2018 Jan 4. Genet Med. 2018. PMID: 29300372 Free PMC article.
Novel 9q34.11 gene deletions encompassing combinations of four Mendelian disease genes: STXBP1, SPTAN1, ENG, and TOR1A.
Campbell IM, Yatsenko SA, Hixson P, Reimschisel T, Thomas M, Wilson W, Dayal U, Wheless JW, Crunk A, Curry C, Parkinson N, Fishman L, Riviello JJ, Nowaczyk MJ, Zeesman S, Rosenfeld JA, Bejjani BA, Shaffer LG, Cheung SW, Lupski JR, Stankiewicz P, Scaglia F. Campbell IM, et al. Among authors: thomas m. Genet Med. 2012 Oct;14(10):868-76. doi: 10.1038/gim.2012.65. Epub 2012 Jun 21. Genet Med. 2012. PMID: 22722545 Free PMC article.
2013 Review and Update of the Genetic Counseling Practice Based Competencies by a Task Force of the Accreditation Council for Genetic Counseling.
Doyle DL, Awwad RI, Austin JC, Baty BJ, Bergner AL, Brewster SJ, Erby LA, Franklin CR, Greb AE, Grubs RE, Hooker GW, Noblin SJ, Ormond KE, Palmer CG, Petty EM, Singletary CN, Thomas MJ, Toriello H, Walton CS, Uhlmann WR. Doyle DL, et al. Among authors: thomas mj. J Genet Couns. 2016 Oct;25(5):868-79. doi: 10.1007/s10897-016-9984-3. Epub 2016 Jun 23. J Genet Couns. 2016. PMID: 27333894 Free article.
Number of passes and outcome of endovascular treatment of anterior circulation large core ischemic stroke: insights from the Endovascular Treatment in Ischemic Stroke (ETIS) registry.
Lambrou V, Gory B, Lapergue B, Marnat G, Pop R, Calviere L, Anadani M, Blanc R, Finitsis SN; ETIS Study Group. Lambrou V, et al. J Neurointerv Surg. 2024 May 30:jnis-2024-021857. doi: 10.1136/jnis-2024-021857. Online ahead of print. J Neurointerv Surg. 2024. PMID: 38816202
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