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Independent role for presynaptic FMRP revealed by an FMR1 missense mutation associated with intellectual disability and seizures.
Myrick LK, Deng PY, Hashimoto H, Oh YM, Cho Y, Poidevin MJ, Suhl JA, Visootsak J, Cavalli V, Jin P, Cheng X, Warren ST, Klyachko VA. Myrick LK, et al. Among authors: suhl ja. Proc Natl Acad Sci U S A. 2015 Jan 27;112(4):949-56. doi: 10.1073/pnas.1423094112. Epub 2015 Jan 5. Proc Natl Acad Sci U S A. 2015. PMID: 25561520 Free PMC article.
Hemizygous mutations in SNAP29 unmask autosomal recessive conditions and contribute to atypical findings in patients with 22q11.2DS.
McDonald-McGinn DM, Fahiminiya S, Revil T, Nowakowska BA, Suhl J, Bailey A, Mlynarski E, Lynch DR, Yan AC, Bilaniuk LT, Sullivan KE, Warren ST, Emanuel BS, Vermeesch JR, Zackai EH, Jerome-Majewska LA. McDonald-McGinn DM, et al. J Med Genet. 2013 Feb;50(2):80-90. doi: 10.1136/jmedgenet-2012-101320. Epub 2012 Dec 11. J Med Genet. 2013. PMID: 23231787 Free PMC article.
A catalog of hemizygous variation in 127 22q11 deletion patients.
Hestand MS, Nowakowska BA, Vergaelen E, Van Houdt J, Dehaspe L, Suhl JA, Del-Favero J, Mortier G, Zackai E, Swillen A, Devriendt K, Gur RE, McDonald-McGinn DM, Warren ST, Emanuel BS, Vermeesch JR. Hestand MS, et al. Among authors: suhl ja. Hum Genome Var. 2016 Jan 14;3:15065. doi: 10.1038/hgv.2015.65. eCollection 2016. Hum Genome Var. 2016. PMID: 27274857 Free PMC article.