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Page 1
De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders.
Chen Y, Dawes R, Kim HC, Stenton SL, Walker S, Ljungdahl A, Lord J, Ganesh VS, Ma J, Martin-Geary AC, Lemire G, D'Souza EN, Dong S, Ellingford JM, Adams DR, Allan K, Bakshi M, Baldwin EE, Berger SI, Bernstein JA, Brown NJ, Burrage LC, Chapman K, Compton AG, Cunningham CA, D'Souza P, Délot EC, Dias KR, Elias ER, Evans CA, Ewans L, Ezell K, Fraser JL, Gallacher L, Genetti CA, Grant CL, Haack T, Kuechler A, Lalani SR, Leitão E, Fevre AL, Leventer RJ, Liebelt JE, Lockhart PJ, Ma AS, Macnamara EF, Maurer TM, Mendez HR, Montgomery SB, Nassogne MC, Neumann S, O'Leary M, Palmer EE, Phillips J, Pitsava G, Pysar R, Rehm HL, Reuter CM, Revencu N, Riess A, Rius R, Rodan L, Roscioli T, Rosenfeld JA, Sachdev R, Simons C, Sisodiya SM, Snell P, Clair L, Stark Z, Tan TY, Tan NB, Temple SE, Thorburn DR, Tifft CJ, Uebergang E, VanNoy GE, Vilain E, Viskochil DH, Wedd L, Wheeler MT, White SM, Wojcik M, Wolfe LA, Wolfenson Z, Xiao C, Zocche D, Rubenstein JL, Markenscoff-Papadimitriou E, Fica SM, Baralle D, Depienne C, MacArthur DG, Howson JM, Sanders SJ, O'Donnell-Luria A, Whiffin N. Chen Y, et al. Among authors: palmer ee. medRxiv [Preprint]. 2024 Apr 9:2024.04.07.24305438. doi: 10.1101/2024.04.07.24305438. medRxiv. 2024. PMID: 38645094 Free PMC article. Preprint.
The need for co-educators to drive a new model of inclusive, person-centred and respectful co-healthcare with people with intellectual disability.
Molnar C, Strnadová I, Dunn M, Loblinzk J, Sarfaraz S, Cathcart-King Y, Tso M, Danker J, Hayes S, Willow SA, Hansen J, Lim TQ, Boyle J, Terrill B, Scully JL, Palmer EE. Molnar C, et al. Front Psychiatry. 2024 Feb 13;15:1346423. doi: 10.3389/fpsyt.2024.1346423. eCollection 2024. Front Psychiatry. 2024. PMID: 38414506 Free PMC article. No abstract available.
"Somewhere to turn to with my questions": A pre-post pilot of an information linker service for caregivers who have a child with a Developmental and Epileptic Encephalopathy.
Robertson EG, Roberts NJ, Le Marne F, Beavis E, Macintosh R, Kelada L, Best S, Goranitis I, Pierce K, Gill D, Sachdev R, Bye A, Palmer EE. Robertson EG, et al. Among authors: palmer ee. Eur J Paediatr Neurol. 2023 Nov;47:94-104. doi: 10.1016/j.ejpn.2023.09.010. Epub 2023 Oct 7. Eur J Paediatr Neurol. 2023. PMID: 37832466 Free article.
ILAE Genetics Literacy series: Progressive myoclonus epilepsies.
Cameron JM, Ellis CA, Berkovic SF; ILAE Genetics Commission; ILAE Genetic Literacy Task Force. Cameron JM, et al. Epileptic Disord. 2023 Oct;25(5):670-680. doi: 10.1002/epd2.20152. Epub 2023 Sep 6. Epileptic Disord. 2023. PMID: 37616028 Free PMC article. Review.
76 results