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A novel SHANK3 interstitial microdeletion in a family with intellectual disability and brain MRI abnormalities resembling Unidentified Bright Objects.
Terrone G, Vitiello G, Genesio R, D'Amico A, Imperati F, Ugga L, Giugliano T, Piluso G, Nitsch L, Brunetti-Pierri N, Del Giudice E. Terrone G, et al. Among authors: genesio r. Eur J Paediatr Neurol. 2017 Nov;21(6):902-906. doi: 10.1016/j.ejpn.2017.07.006. Epub 2017 Jul 20. Eur J Paediatr Neurol. 2017. PMID: 28754298
A small 7q11.23 microduplication involving GTF2I in a family with intellectual disability.
Pinelli M, Terrone G, Troglio F, Squeo GM, Cappuccio G, Imperati F, Pignataro P, Genesio R, Nitch L, Del Giudice E, Merla G, Testa G, Brunetti-Pierri N. Pinelli M, et al. Among authors: genesio r. Clin Genet. 2020 Jun;97(6):940-942. doi: 10.1111/cge.13753. Epub 2020 Apr 29. Clin Genet. 2020. PMID: 32349160 Free PMC article.
Listen to Your Patients: A Diagnostic Clue.
Grasso F, Genesio R, Brunetti-Pierri N. Grasso F, et al. Among authors: genesio r. J Pediatr. 2020 Sep;224:171. doi: 10.1016/j.jpeds.2020.05.015. Epub 2020 May 20. J Pediatr. 2020. PMID: 32442447 No abstract available.
Two cases of 16q12.1q21 deletions and refinement of the critical region.
Apuzzo D, Cappuccio G, Vaisanen T, Alagia M, Pignataro P, Genesio R, Brunetti-Pierri N. Apuzzo D, et al. Among authors: genesio r. Eur J Med Genet. 2020 Jun;63(6):103878. doi: 10.1016/j.ejmg.2020.103878. Epub 2020 Feb 8. Eur J Med Genet. 2020. PMID: 32045705
Microdeletion of pseudogene chr14.232.a affects LRFN5 expression in cells of a patient with autism spectrum disorder.
Cappuccio G, Attanasio S, Alagia M, Mutarelli M, Borzone R, Karali M, Genesio R, Mormile A, Nitsch L, Imperati F, Esposito A, Banfi S, Del Giudice E, Brunetti-Pierri N. Cappuccio G, et al. Among authors: genesio r. Eur J Hum Genet. 2019 Sep;27(9):1475-1480. doi: 10.1038/s41431-019-0430-5. Epub 2019 May 31. Eur J Hum Genet. 2019. PMID: 31152157 Free PMC article.
Peculiar footprints in a child with agenesis of corpus callosum.
Cappuccio G, Genesio R, Pignataro P, Brunetti-Pierri N. Cappuccio G, et al. Among authors: genesio r. J Paediatr Child Health. 2021 Mar;57(3):450-451. doi: 10.1111/jpc.1_15176. J Paediatr Child Health. 2021. PMID: 33728780 No abstract available.
New insights in the interpretation of array-CGH: autism spectrum disorder and positive family history for intellectual disability predict the detection of pathogenic variants.
Cappuccio G, Vitiello F, Casertano A, Fontana P, Genesio R, Bruzzese D, Ginocchio VM, Mormile A, Nitsch L, Andria G, Melis D. Cappuccio G, et al. Among authors: genesio r. Ital J Pediatr. 2016 Apr 12;42:39. doi: 10.1186/s13052-016-0246-7. Ital J Pediatr. 2016. PMID: 27072107 Free PMC article.
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