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MSL2 variants lead to a neurodevelopmental syndrome with lack of coordination, epilepsy, specific dysmorphisms, and a distinct episignature.
Karayol R, Borroto MC, Haghshenas S, Namasivayam A, Reilly J, Levy MA, Relator R, Kerkhof J, McConkey H, Shvedunova M, Petersen AK, Magnussen K, Zweier C, Vasileiou G, Reis A, Savatt JM, Mulligan MR, Bicknell LS, Poke G, Abu-El-Haija A, Duis J, Hannig V, Srivastava S, Barkoudah E, Hauser NS, van den Born M, Hamiel U, Henig N, Baris Feldman H, McKee S, Krapels IPC, Lei Y, Todorova A, Yordanova R, Atemin S, Rogac M, McConnell V, Chassevent A, Barañano KW, Shashi V, Sullivan JA, Peron A, Iascone M, Canevini MP, Friedman J, Reyes IA, Kierstein J, Shen JJ, Ahmed FN, Mao X, Almoguera B, Blanco-Kelly F, Platzer K, Treu AB, Quilichini J, Bourgois A, Chatron N, Januel L, Rougeot C, Carere DA, Monaghan KG, Rousseau J, Myers KA, Sadikovic B, Akhtar A, Campeau PM. Karayol R, et al. Among authors: friedman j. Am J Hum Genet. 2024 May 28:S0002-9297(24)00164-2. doi: 10.1016/j.ajhg.2024.05.001. Online ahead of print. Am J Hum Genet. 2024. PMID: 38815585
Isolated Toe Tremor with APS: Why Publish?
Friedman JH. Friedman JH. R I Med J (2013). 2024 Jun 3;107(6):47-48. R I Med J (2013). 2024. PMID: 38810016 Free article. No abstract available.
Gender differences in PTSD severity and pain outcomes: Baseline results from the LAMP trial.
Friedman JK, Taylor BC, Campbell EH, Allen K, Bangerter A, Branson M, Bronfort G, Calvert C, Cross LJS, Driscoll MA, Evans R, Ferguson JE, Haley A, Hennessy S, Meis LA, Burgess DJ. Friedman JK, et al. PLoS One. 2024 May 16;19(5):e0293437. doi: 10.1371/journal.pone.0293437. eCollection 2024. PLoS One. 2024. PMID: 38753651 Free PMC article. Clinical Trial.
4,019 results