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Association of novel mutation in TRPV4 with familial nonsyndromic craniosynostosis with complete penetrance and variable expressivity.
Gayden T, Crevier-Sorbo G, Jawhar W, Saint-Martin C, Eveleigh R, Gilardino MS, Anastasio N, Trakadis Y, Bassenden AV, Berghuis AM, Jabado N, Dudley RWR. Gayden T, et al. Among authors: trakadis y. J Neurosurg Pediatr. 2023 Mar 10;31(6):584-592. doi: 10.3171/2023.1.PEDS22287. Print 2023 Jun 1. J Neurosurg Pediatr. 2023. PMID: 36905673
Metabolomics in patients with psychosis: A systematic review.
Li C, Wang A, Wang C, Ramamurthy J, Zhang E, Guadagno E, Trakadis Y. Li C, et al. Among authors: trakadis y. Am J Med Genet B Neuropsychiatr Genet. 2018 Sep;177(6):580-588. doi: 10.1002/ajmg.b.32662. Epub 2018 Aug 4. Am J Med Genet B Neuropsychiatr Genet. 2018. PMID: 30076730
Case 1: Recurrent acute liver dysfunction in a 19-month-old boy.
Trakadis YJ, D'Agostino DM, Braverman NE, Lévesque S, Morinville V. Trakadis YJ, et al. Paediatr Child Health. 2012 May;17(5):247-8. doi: 10.1093/pch/17.5.247. Paediatr Child Health. 2012. PMID: 23633898 Free PMC article. No abstract available.
PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production.
Ebstein F, Küry S, Most V, Rosenfelt C, Scott-Boyer MP, van Woerden GM, Besnard T, Papendorf JJ, Studencka-Turski M, Wang T, Hsieh TC, Golnik R, Baldridge D, Forster C, de Konink C, Teurlings SMW, Vignard V, van Jaarsveld RH, Ades L, Cogné B, Mignot C, Deb W, Jongmans MCJ, Cole FS, van den Boogaard MH, Wambach JA, Wegner DJ, Yang S, Hannig V, Brault JA, Zadeh N, Bennetts B, Keren B, Gélineau AC, Powis Z, Towne M, Bachman K, Seeley A, Beck AE, Morrison J, Westman R, Averill K, Brunet T, Haasters J, Carter MT, Osmond M, Wheeler PG, Forzano F, Mohammed S, Trakadis Y, Accogli A, Harrison R, Guo Y, Hakonarson H, Rondeau S, Baujat G, Barcia G, Feichtinger RG, Mayr JA, Preisel M, Laumonnier F, Kallinich T, Knaus A, Isidor B, Krawitz P, Völker U, Hammer E, Droit A, Eichler EE, Elgersma Y, Hildebrand PW, Bolduc F, Krüger E, Bézieau S. Ebstein F, et al. Among authors: trakadis y. Sci Transl Med. 2023 May 31;15(698):eabo3189. doi: 10.1126/scitranslmed.abo3189. Epub 2023 May 31. Sci Transl Med. 2023. PMID: 37256937 Free PMC article.
44 results