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Page 1
Characterization of intellectual disability and autism comorbidity through gene panel sequencing.
Aspromonte MC, Bellini M, Gasparini A, Carraro M, Bettella E, Polli R, Cesca F, Bigoni S, Boni S, Carlet O, Negrin S, Mammi I, Milani D, Peron A, Sartori S, Toldo I, Soli F, Turolla L, Stanzial F, Benedicenti F, Marino-Buslje C, Tosatto SCE, Murgia A, Leonardi E. Aspromonte MC, et al. Among authors: boni s. Hum Mutat. 2019 Sep;40(9):1346-1363. doi: 10.1002/humu.23822. Epub 2019 Aug 2. Hum Mutat. 2019. PMID: 31209962 Free PMC article.
Enhanced MAPK1 Function Causes a Neurodevelopmental Disorder within the RASopathy Clinical Spectrum.
Motta M, Pannone L, Pantaleoni F, Bocchinfuso G, Radio FC, Cecchetti S, Ciolfi A, Di Rocco M, Elting MW, Brilstra EH, Boni S, Mazzanti L, Tamburrino F, Walsh L, Payne K, Fernández-Jaén A, Ganapathi M, Chung WK, Grange DK, Dave-Wala A, Reshmi SC, Bartholomew DW, Mouhlas D, Carpentieri G, Bruselles A, Pizzi S, Bellacchio E, Piceci-Sparascio F, Lißewski C, Brinkmann J, Waclaw RR, Waisfisz Q, van Gassen K, Wentzensen IM, Morrow MM, Álvarez S, Martínez-García M, De Luca A, Memo L, Zampino G, Rossi C, Seri M, Gelb BD, Zenker M, Dallapiccola B, Stella L, Prada CE, Martinelli S, Flex E, Tartaglia M. Motta M, et al. Among authors: boni s. Am J Hum Genet. 2020 Sep 3;107(3):499-513. doi: 10.1016/j.ajhg.2020.06.018. Epub 2020 Jul 27. Am J Hum Genet. 2020. PMID: 32721402 Free PMC article.
Characterization of intellectual disability and autism comorbidity through gene panel sequencing.
Aspromonte MC, Bellini M, Gasparini A, Carraro M, Bettella E, Polli R, Cesca F, Bigoni S, Boni S, Carlet O, Negrin S, Mammi I, Milani D, Peron A, Sartori S, Toldo I, Soli F, Turolla L, Stanzial F, Benedicenti F, Marino-Buslje C, Tosatto SCE, Murgia A, Leonardi E. Aspromonte MC, et al. Among authors: boni s. Hum Mutat. 2020 Jun;41(6):1183. doi: 10.1002/humu.24012. Epub 2020 Mar 20. Hum Mutat. 2020. PMID: 32400065 No abstract available.
Molecular characterization of 11 Italian patients with Darier disease.
Pedace L, Barboni L, Pozzetto E, Amantea A, Zambruno G, Preziosi N, Benedicenti F, Boni S, De Brasi D, Panetta C, Ferraro C, De Bernardo C, Castori M, Grammatico P. Pedace L, et al. Among authors: boni s. Eur J Dermatol. 2011 May-Jun;21(3):334-8. doi: 10.1684/ejd.2011.1339. Eur J Dermatol. 2011. PMID: 21527373
A Novel WAC Loss of Function Mutation in an Individual Presenting with Encephalopathy Related to Status Epilepticus during Sleep (ESES).
Leonardi E, Bellini M, Aspromonte MC, Polli R, Mercante A, Ciaccio C, Granocchio E, Bettella E, Donati I, Cainelli E, Boni S, Sartori S, Pantaleoni C, Boniver C, Murgia A. Leonardi E, et al. Among authors: boni s. Genes (Basel). 2020 Mar 24;11(3):344. doi: 10.3390/genes11030344. Genes (Basel). 2020. PMID: 32214004 Free PMC article.