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Year Number of Results
2003 1
2004 2
2005 2
2006 5
2007 3
2008 7
2009 6
2010 7
2011 6
2012 4
2013 7
2014 12
2015 2
2016 2
2017 1
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2019 4
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2023 5
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74 results

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Page 1
Assortative mating and parental genetic relatedness contribute to the pathogenicity of variably expressive variants.
Smolen C, Jensen M, Dyer L, Pizzo L, Tyryshkina A, Banerjee D, Rohan L, Huber E, El Khattabi L, Prontera P, Caberg JH, Van Dijck A, Schwartz C, Faivre L, Callier P, Mosca-Boidron AL, Lefebvre M, Pope K, Snell P, Lockhart PJ, Castiglia L, Galesi O, Avola E, Mattina T, Fichera M, Luana Mandarà GM, Bruccheri MG, Pichon O, Le Caignec C, Stoeva R, Cuinat S, Mercier S, Bénéteau C, Blesson S, Nordsletten A, Martin-Coignard D, Sistermans E, Kooy RF, Amor DJ, Romano C, Isidor B, Juusola J, Girirajan S. Smolen C, et al. Among authors: fichera m. Am J Hum Genet. 2023 Dec 7;110(12):2015-2028. doi: 10.1016/j.ajhg.2023.10.015. Epub 2023 Nov 17. Am J Hum Genet. 2023. PMID: 37979581
Assortative mating and parental genetic relatedness drive the pathogenicity of variably expressive variants.
Smolen C, Jensen M, Dyer L, Pizzo L, Tyryshkina A, Banerjee D, Rohan L, Huber E, El Khattabi L, Prontera P, Caberg JH, Van Dijck A, Schwartz C, Faivre L, Callier P, Mosca-Boidron AL, Lefebvre M, Pope K, Snell P, Lockhart PJ, Castiglia L, Galesi O, Avola E, Mattina T, Fichera M, Mandarà GML, Bruccheri MG, Pichon O, Le Caignec C, Stoeva R, Cuinat S, Mercier S, Bénéteau C, Blesson S, Nordsletten A, Martin-Coignard D, Sistermans E, Kooy RF, Amor DJ, Romano C, Isidor B, Juusola J, Girirajan S. Smolen C, et al. Among authors: fichera m. medRxiv [Preprint]. 2023 May 26:2023.05.18.23290169. doi: 10.1101/2023.05.18.23290169. medRxiv. 2023. PMID: 37292616 Free PMC article. Updated. Preprint.
PARK2 microdeletion in a multiplex family with autism spectrum disorder.
Barone R, Cirnigliaro L, Saccuzzo L, Valdese S, Pettinato F, Prato A, Bernardini L, Fichera M, Rizzo R. Barone R, et al. Among authors: fichera m. Int J Dev Neurosci. 2023 Feb;83(1):121-131. doi: 10.1002/jdn.10246. Epub 2022 Dec 20. Int J Dev Neurosci. 2023. PMID: 36478299
Targeted next-generation sequencing identifies the disruption of the SHANK3 and RYR2 genes in a patient carrying a de novo t(1;22)(q43;q13.3) associated with signs of Phelan-McDermid syndrome.
Bonaglia MC, Bertuzzo S, Ciaschini AM, Discepoli G, Castiglia L, Romaniello R, Zuffardi O, Fichera M. Bonaglia MC, et al. Among authors: fichera m. Mol Cytogenet. 2020 Jun 11;13:22. doi: 10.1186/s13039-020-00490-6. eCollection 2020. Mol Cytogenet. 2020. PMID: 32536973 Free PMC article.
74 results