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A de novo microdeletion of SEMA5A in a boy with autism spectrum disorder and intellectual disability.
Mosca-Boidron AL, Gueneau L, Huguet G, Goldenberg A, Henry C, Gigot N, Pallesi-Pocachard E, Falace A, Duplomb L, Thevenon J, Duffourd Y, St-Onge J, Chambon P, Rivière JB, Thauvin-Robinet C, Callier P, Marle N, Payet M, Ragon C, Goubran Botros H, Buratti J, Calderari S, Dumas G, Delorme R, Lagarde N, Pinoit JM, Rosier A, Masurel-Paulet A, Cardoso C, Mugneret F, Saugier-Veber P, Campion D, Faivre L, Bourgeron T. Mosca-Boidron AL, et al. Among authors: falace a. Eur J Hum Genet. 2016 Jun;24(6):838-43. doi: 10.1038/ejhg.2015.211. Epub 2015 Sep 23. Eur J Hum Genet. 2016. PMID: 26395558 Free PMC article.
Disorders of neurogenesis and cortical development.
Guarnieri FC, de Chevigny A, Falace A, Cardoso C. Guarnieri FC, et al. Among authors: falace a. Dialogues Clin Neurosci. 2018 Dec;20(4):255-266. doi: 10.31887/DCNS.2018.20.4/ccardoso. Dialogues Clin Neurosci. 2018. PMID: 30936766 Free PMC article. Review.
Do regulatory regions matter in FOXG1 duplications?
Falace A, Vanni N, Mallamaci A, Striano P, Zara F. Falace A, et al. Eur J Hum Genet. 2013 Apr;21(4):365-6. doi: 10.1038/ejhg.2012.142. Epub 2012 Jul 4. Eur J Hum Genet. 2013. PMID: 22763380 Free PMC article. No abstract available.
A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations.
Conti V, Carabalona A, Pallesi-Pocachard E, Leventer RJ, Schaller F, Parrini E, Deparis AA, Watrin F, Buhler E, Novara F, Lise S, Pagnamenta AT, Kini U, Taylor JC, Zuffardi O, Represa A, Keays DA, Guerrini R, Falace A, Cardoso C. Conti V, et al. Among authors: falace a. J Vis Exp. 2017 Dec 1;(130):53570. doi: 10.3791/53570. J Vis Exp. 2017. PMID: 29286390 Free PMC article.
DAG1 haploinsufficiency is associated with sporadic and familial isolated or pauci-symptomatic hyperCKemia.
Traverso M, Baratto S, Iacomino M, Di Duca M, Panicucci C, Casalini S, Grandis M, Falace A, Torella A, Picillo E, Onore ME, Politano L, Nigro V, Innes AM, Barresi R, Bruno C, Zara F, Fiorillo C, Scala M. Traverso M, et al. Among authors: falace a. Eur J Hum Genet. 2024 Mar;32(3):342-349. doi: 10.1038/s41431-023-01516-4. Epub 2024 Jan 4. Eur J Hum Genet. 2024. PMID: 38177406
TBC1D24, an ARF6-interacting protein, is mutated in familial infantile myoclonic epilepsy.
Falace A, Filipello F, La Padula V, Vanni N, Madia F, De Pietri Tonelli D, de Falco FA, Striano P, Dagna Bricarelli F, Minetti C, Benfenati F, Fassio A, Zara F. Falace A, et al. Am J Hum Genet. 2010 Sep 10;87(3):365-70. doi: 10.1016/j.ajhg.2010.07.020. Epub 2010 Aug 19. Am J Hum Genet. 2010. PMID: 20727515 Free PMC article.
47 results