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Mutations in SYNGAP1 cause intellectual disability, autism, and a specific form of epilepsy by inducing haploinsufficiency.
Berryer MH, Hamdan FF, Klitten LL, Møller RS, Carmant L, Schwartzentruber J, Patry L, Dobrzeniecka S, Rochefort D, Neugnot-Cerioli M, Lacaille JC, Niu Z, Eng CM, Yang Y, Palardy S, Belhumeur C, Rouleau GA, Tommerup N, Immken L, Beauchamp MH, Patel GS, Majewski J, Tarnopolsky MA, Scheffzek K, Hjalgrim H, Michaud JL, Di Cristo G. Berryer MH, et al. Hum Mutat. 2013 Feb;34(2):385-94. doi: 10.1002/humu.22248. Epub 2012 Dec 12. Hum Mutat. 2013. PMID: 23161826
Antenatal Suppression of IL-1 Protects against Inflammation-Induced Fetal Injury and Improves Neonatal and Developmental Outcomes in Mice.
Nadeau-Vallée M, Chin PY, Belarbi L, Brien MÈ, Pundir S, Berryer MH, Beaudry-Richard A, Madaan A, Sharkey DJ, Lupien-Meilleur A, Hou X, Quiniou C, Beaulac A, Boufaied I, Boudreault A, Carbonaro A, Doan ND, Joyal JS, Lubell WD, Olson DM, Robertson SA, Girard S, Chemtob S. Nadeau-Vallée M, et al. Among authors: berryer mh. J Immunol. 2017 Mar 1;198(5):2047-2062. doi: 10.4049/jimmunol.1601600. Epub 2017 Feb 1. J Immunol. 2017. PMID: 28148737
Fly model sheds light on brain disease.
Berryer MH, Kosmaczewski SG, Barrett LE. Berryer MH, et al. Elife. 2019 Dec 6;8:e53233. doi: 10.7554/eLife.53233. Elife. 2019. PMID: 31808420 Free PMC article.