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Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7.
Castilla-Vallmanya L, Selmer KK, Dimartino C, Rabionet R, Blanco-Sánchez B, Yang S, Reijnders MRF, van Essen AJ, Oufadem M, Vigeland MD, Stadheim B, Houge G, Cox H, Kingston H, Clayton-Smith J, Innis JW, Iascone M, Cereda A, Gabbiadini S, Chung WK, Sanders V, Charrow J, Bryant E, Millichap J, Vitobello A, Thauvin C, Mau-Them FT, Faivre L, Lesca G, Labalme A, Rougeot C, Chatron N, Sanlaville D, Christensen KM, Kirby A, Lewandowski R, Gannaway R, Aly M, Lehman A, Clarke L, Graul-Neumann L, Zweier C, Lessel D, Lozic B, Aukrust I, Peretz R, Stratton R, Smol T, Dieux-Coëslier A, Meira J, Wohler E, Sobreira N, Beaver EM, Heeley J, Briere LC, High FA, Sweetser DA, Walker MA, Keegan CE, Jayakar P, Shinawi M, Kerstjens-Frederikse WS, Earl DL, Siu VM, Reesor E, Yao T, Hegele RA, Vaske OM, Rego S; Undiagnosed Diseases Network, Care4Rare Canada Consortium; Shapiro KA, Wong B, Gambello MJ, McDonald M, Karlowicz D, Colombo R, Serretti A, Pais L, O'Donnell-Luria A, Wray A, Sadedin S, Chong B, Tan TY, Christodoulou J, White SM, Slavotinek A, Barbouth D, Morel Swols D, Parisot M, Bole-Feysot C, Nitschké P, Pingault V, Munnich A, Cho MT, Cormier-Daire V, Balcells S, Lyonnet S, Grinberg D, Am… See abstract for full author list ➔ Castilla-Vallmanya L, et al. Among authors: wray a. Genet Med. 2020 Jul;22(7):1215-1226. doi: 10.1038/s41436-020-0792-7. Epub 2020 May 7. Genet Med. 2020. PMID: 32376980 Free PMC article.
Second-hit DEPDC5 mutation is limited to dysmorphic neurons in cortical dysplasia type IIA.
Lee WS, Stephenson SEM, Howell KB, Pope K, Gillies G, Wray A, Maixner W, Mandelstam SA, Berkovic SF, Scheffer IE, MacGregor D, Harvey AS, Lockhart PJ, Leventer RJ. Lee WS, et al. Among authors: wray a. Ann Clin Transl Neurol. 2019 Jul;6(7):1338-1344. doi: 10.1002/acn3.50815. Epub 2019 Jun 17. Ann Clin Transl Neurol. 2019. PMID: 31353856 Free PMC article.
An unexpected disease course for a patient with diffuse midline glioma.
Malalasekera VS, D'Arcy CE, Mignone C, Wray AC, Nazarian J, Freeman JL, Hansford JR. Malalasekera VS, et al. Pediatr Blood Cancer. 2021 Oct;68(10):e29205. doi: 10.1002/pbc.29205. Epub 2021 Jul 10. Pediatr Blood Cancer. 2021. PMID: 34245217 No abstract available.
One-Stage, Limited-Resection Epilepsy Surgery for Bottom-of-Sulcus Dysplasia.
Macdonald-Laurs E, Maixner WJ, Bailey CA, Barton SM, Mandelstam SA, Yuan-Mou Yang J, Warren AEL, Kean MJ, Francis P, MacGregor D, D'Arcy C, Wrennall JA, Davidson A, Pope K, Leventer RJ, Freeman JL, Wray A, Jackson GD, Harvey AS. Macdonald-Laurs E, et al. Among authors: wray a. Neurology. 2021 Jul 13;97(2):e178-e190. doi: 10.1212/WNL.0000000000012147. Epub 2021 May 4. Neurology. 2021. PMID: 33947776
Pediatric dural arteriovenous malformations.
Appaduray SP, King JA, Wray A, Lo P, Maixner W. Appaduray SP, et al. Among authors: wray a. J Neurosurg Pediatr. 2014 Jul;14(1):16-22. doi: 10.3171/2014.4.PEDS13695. Epub 2014 May 9. J Neurosurg Pediatr. 2014. PMID: 24867128
Dural infantile hemangioma masquerading as a skull vault lesion.
Philpott C, Wray A, MacGregor D, Coleman L. Philpott C, et al. Among authors: wray a. AJNR Am J Neuroradiol. 2012 Jun;33(6):E85-7. doi: 10.3174/ajnr.A2752. Epub 2011 Nov 24. AJNR Am J Neuroradiol. 2012. PMID: 22116108 Free PMC article.
203 results