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Novel pathogenic SMAD2 variants in five families with arterial aneurysm and dissection: further delineation of the phenotype.
Cannaerts E, Kempers M, Maugeri A, Marcelis C, Gardeitchik T, Richer J, Micha D, Beauchesne L, Timmermans J, Vermeersch P, Meyten N, Chénier S, van de Beek G, Peeters N, Alaerts M, Schepers D, Van Laer L, Verstraeten A, Loeys B. Cannaerts E, et al. Among authors: chenier s. J Med Genet. 2019 Apr;56(4):220-227. doi: 10.1136/jmedgenet-2018-105304. Epub 2018 Jul 2. J Med Genet. 2019. PMID: 29967133
Genotype-phenotype analysis of the branchio-oculo-facial syndrome.
Milunsky JM, Maher TM, Zhao G, Wang Z, Mulliken JB, Chitayat D, Clemens M, Stalker HJ, Bauer M, Burch M, Chénier S, Cunningham ML, Drack AV, Janssens S, Karlea A, Klatt R, Kini U, Klein O, Lachmeijer AM, Megarbane A, Mendelsohn NJ, Meschino WS, Mortier GR, Parkash S, Ray CR, Roberts A, Roberts A, Reardon W, Schnur RE, Smith R, Splitt M, Tezcan K, Whiteford ML, Wong DA, Zori R, Lin AE. Milunsky JM, et al. Among authors: chenier s. Am J Med Genet A. 2011 Jan;155A(1):22-32. doi: 10.1002/ajmg.a.33783. Am J Med Genet A. 2011. PMID: 21204207
Successful in vitro maturation of oocytes in a woman with gonadotropin-resistant ovary syndrome associated with a novel combination of FSH receptor gene variants: a case report.
Flageole C, Toufaily C, Bernard DJ, Ates S, Blais V, Chénier S, Benkhalifa M, Miron P. Flageole C, et al. Among authors: chenier s. J Assist Reprod Genet. 2019 Mar;36(3):425-432. doi: 10.1007/s10815-018-1394-z. Epub 2019 Jan 5. J Assist Reprod Genet. 2019. PMID: 30610662 Free PMC article.
Copy number variation in genetic epilepsy with febrile seizures plus.
Fortin O, Vincelette C, Chénier S, Ghais A, Shevell MI, Simard-Tremblay E, Myers KA. Fortin O, et al. Among authors: chenier s. Eur J Paediatr Neurol. 2020 Jul;27:111-115. doi: 10.1016/j.ejpn.2020.05.005. Epub 2020 Jun 20. Eur J Paediatr Neurol. 2020. PMID: 32595013
Biallelic Loss-of-Function Variants in AIMP1 Cause a Rare Neurodegenerative Disease.
Accogli A, Guerrero K, D'Agostino MD, Tran L, Cieuta-Walti C, Thiffault I, Chénier S, Schwartzentruber J, Majewski J; Care4Rare Canada Consortium; Bernard G. Accogli A, et al. Among authors: chenier s. J Child Neurol. 2019 Feb;34(2):74-80. doi: 10.1177/0883073818811223. Epub 2018 Nov 28. J Child Neurol. 2019. PMID: 30486714
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