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Page 1
Relaxation properties of human umbilical cord blood at 1.5 Tesla.
Portnoy S, Osmond M, Zhu MY, Seed M, Sled JG, Macgowan CK. Portnoy S, et al. Among authors: osmond m. Magn Reson Med. 2017 Apr;77(4):1678-1690. doi: 10.1002/mrm.26231. Epub 2016 Apr 5. Magn Reson Med. 2017. PMID: 27059881 Free PMC article.
Symptom Recovery in Children Aged 5 to 12 Years With Sport-Related and Non-Sport-Related Concussion.
Ledoux AA, Sicard V, Bijelic V, Barrowman N, van Ierssel J, Beer D, Boutis K, Burns E, Craig W, Freedman SB, Gagnon I, Gravel J, Sangha G, Yeates KO, Osmond M, Zemek R; Pediatric Emergency Research Canada (PERC) Predicting and Preventing Postconcussive Problems in Pediatrics (5P) Concussion Team. Ledoux AA, et al. Among authors: osmond m. JAMA Netw Open. 2024 Dec 2;7(12):e2448797. doi: 10.1001/jamanetworkopen.2024.48797. JAMA Netw Open. 2024. PMID: 39630449 Free PMC article.
POLR3B is associated with a developmental and epileptic encephalopathy with myoclonic-atonic seizures and ataxia.
Symonds JD, Park KL, Mignot C, Macleod S, Armstrong M, Ashrafian H, Bernard G, Brown K, Brunklaus A, Callaghan M, Classen G, Cohen JS, Cutcutache I, de Sainte Agathe JM, Dyment D, Elliot KS, Isapof A, Joss S, Keren B, Marble M, McTague A, Osmond M, Page M, Planes M, Platzer K, Redon S, Reese J, Saenz M, Smith-Hicks C, Stobo D, Stockhaus C, Vuillaume ML, Wolf NI, Wakeling EL, Yoon G, Knight JC, Zuberi SM. Symonds JD, et al. Among authors: osmond m. Epilepsia. 2024 Nov;65(11):3303-3323. doi: 10.1111/epi.18115. Epub 2024 Sep 30. Epilepsia. 2024. PMID: 39348199
Genetics Navigator: protocol for a mixed methods randomized controlled trial evaluating a digital platform to deliver genomic services in Canadian pediatric and adult populations.
D'Amours G, Clausen M, Luca S, Reble E, Kodida R, Assamad D, Bernier F, Chad L, Costain G, Dhalla I, Faghfoury H, Friedman JM, Hewson S, Jamieson T, Silver J, Shuman C, Osmond M, Carroll JC, Jobling R, Laberge AM, Aronson M, Liston E, Lerner-Ellis J, Marshall C, Brudno M, Pham Q, Rudzicz F, Cohn R, Mamdani M, Smith M, Shastri-Estrada S, Seto E, Thorpe K, Ungar W, Hayeems RZ, Bombard Y. D'Amours G, et al. Among authors: osmond m. BMJ Open. 2024 Sep 3;14(9):e090084. doi: 10.1136/bmjopen-2024-090084. BMJ Open. 2024. PMID: 39231549 Free PMC article.
Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy.
Banks E, Francis V, Lin SJ, Kharfallah F, Fonov V, Lévesque M, Han C, Kulasekaran G, Tuznik M, Bayati A, Al-Khater R, Alkuraya FS, Argyriou L, Babaei M, Bahlo M, Bakhshoodeh B, Barr E, Bartik L, Bassiony M, Bertrand M, Braun D, Buchert R, Budetta M, Cadieux-Dion M, Calame DG, Cope H, Cushing D, Efthymiou S, Elmaksoud MA, El Said HG, Froukh T, Gill HK, Gleeson JG, Gogoll L, Goh ES, Gowda VK, Haack TB, Hashem MO, Hauser S, Hoffman TL, Hogue JS, Hosokawa A, Houlden H, Huang K, Huynh S, Karimiani EG, Kaulfuß S, Korenke GC, Kritzer A, Lee H, Lupski JR, Marco EJ, McWalter K, Minassian A, Minassian BA, Murphy D, Neira-Fresneda J, Northrup H, Nyaga DM, Oehl-Jaschkowitz B, Osmond M, Person R, Pehlivan D, Petree C, Sadleir LG, Saunders C, Schoels L, Shashi V, Spillmann RC, Srinivasan VM, Torbati PN, Tos T; Undiagnosed Diseases Network; Zaki MS, Zhou D, Zweier C, Trempe JF, Durcan TM, Gan-Or Z, Avoli M, Alves C, Varshney GK, Maroofian R, Rudko DA, McPherson PS. Banks E, et al. Among authors: osmond m. Nat Commun. 2024 Aug 22;15(1):7239. doi: 10.1038/s41467-024-51310-z. Nat Commun. 2024. PMID: 39174524 Free PMC article.
De novo missense variants in exon 9 of SEPHS1 cause a neurodevelopmental condition with developmental delay, poor growth, hypotonia, and dysmorphic features.
Mullegama SV, Kiernan KA, Torti E, Pavlovsky E, Tilton N, Sekula A, Gao H, Alaimo JT, Engleman K, Rush ET, Blocker K, Dipple KM, Fettig VM, Hare H, Glass I, Grange DK, Griffin M, Phornphutkul C, Massingham L, Mehta L, Miller DE, Thies J, Merritt JL 2nd, Muller E 2nd, Osmond M, Sawyer SL, Slaugh R, Hickey RE, Wolf B; Care4Rare Canada Consortium; Undiagnosed Diseases Network; Choudhary S, Simonović M, Zhang Y, Palculict TB, Telegrafi A, Carere DA, Wentzensen IM, Morrow MM, Monaghan KG, Juusola J, Yang J. Mullegama SV, et al. Among authors: osmond m. Am J Hum Genet. 2024 Jun 6;111(6):1240. doi: 10.1016/j.ajhg.2024.05.004. Epub 2024 May 14. Am J Hum Genet. 2024. PMID: 38749428 Free PMC article. No abstract available.
206 results