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A de novo X;8 translocation creates a PTK2-THOC2 gene fusion with THOC2 expression knockdown in a patient with psychomotor retardation and congenital cerebellar hypoplasia.
Di Gregorio E, Bianchi FT, Schiavi A, Chiotto AM, Rolando M, Verdun di Cantogno L, Grosso E, Cavalieri S, Calcia A, Lacerenza D, Zuffardi O, Retta SF, Stevanin G, Marelli C, Durr A, Forlani S, Chelly J, Montarolo F, Tempia F, Beggs HE, Reed R, Squadrone S, Abete MC, Brussino A, Ventura N, Di Cunto F, Brusco A. Di Gregorio E, et al. Among authors: lacerenza d. J Med Genet. 2013 Aug;50(8):543-51. doi: 10.1136/jmedgenet-2013-101542. Epub 2013 Jun 7. J Med Genet. 2013. PMID: 23749989 Free PMC article.
ELOVL5 mutations cause spinocerebellar ataxia 38.
Di Gregorio E, Borroni B, Giorgio E, Lacerenza D, Ferrero M, Lo Buono N, Ragusa N, Mancini C, Gaussen M, Calcia A, Mitro N, Hoxha E, Mura I, Coviello DA, Moon YA, Tesson C, Vaula G, Couarch P, Orsi L, Duregon E, Papotti MG, Deleuze JF, Imbert J, Costanzi C, Padovani A, Giunti P, Maillet-Vioud M, Durr A, Brice A, Tempia F, Funaro A, Boccone L, Caruso D, Stevanin G, Brusco A. Di Gregorio E, et al. Among authors: lacerenza d. Am J Hum Genet. 2014 Aug 7;95(2):209-17. doi: 10.1016/j.ajhg.2014.07.001. Epub 2014 Jul 24. Am J Hum Genet. 2014. PMID: 25065913 Free PMC article.
Analysis of LMNB1 duplications in autosomal dominant leukodystrophy provides insights into duplication mechanisms and allele-specific expression.
Giorgio E, Rolyan H, Kropp L, Chakka AB, Yatsenko S, Di Gregorio E, Lacerenza D, Vaula G, Talarico F, Mandich P, Toro C, Pierre EE, Labauge P, Capellari S, Cortelli P, Vairo FP, Miguel D, Stubbolo D, Marques LC, Gahl W, Boespflug-Tanguy O, Melberg A, Hassin-Baer S, Cohen OS, Pjontek R, Grau A, Klopstock T, Fogel B, Meijer I, Rouleau G, Bouchard JP, Ganapathiraju M, Vanderver A, Dahl N, Hobson G, Brusco A, Brussino A, Padiath QS. Giorgio E, et al. Among authors: lacerenza d. Hum Mutat. 2013 Aug;34(8):1160-71. doi: 10.1002/humu.22348. Epub 2013 May 28. Hum Mutat. 2013. PMID: 23649844 Free PMC article.
Characterization of ancestry informative markers in the Tigray population of Ethiopia: A contribution to the identification process of dead migrants in the Mediterranean Sea.
Kumar HRS, Haddish K, Lacerenza D, Aneli S, Di Gaetano C, Tewelemedhin G, Manukonda RV, Futwi N, Alvarez-Iglesias V, de la Puente M, Fondevila M, Lareu MV, Phillips C, Robino C. Kumar HRS, et al. Among authors: lacerenza d. Forensic Sci Int Genet. 2020 Mar;45:102207. doi: 10.1016/j.fsigen.2019.102207. Epub 2019 Nov 20. Forensic Sci Int Genet. 2020. PMID: 31812100 Free article.
Investigation of extended Y chromosome STR haplotypes in Sardinia.
Lacerenza D, Aneli S, Di Gaetano C, Critelli R, Piazza A, Matullo G, Culigioni C, Robledo R, Robino C, Calò C. Lacerenza D, et al. Forensic Sci Int Genet. 2017 Mar;27:172-174. doi: 10.1016/j.fsigen.2016.12.009. Epub 2016 Dec 28. Forensic Sci Int Genet. 2017. PMID: 28057510 Free article.
Allele and haplotype diversity of 12 X-STRs in Sardinia.
Robino C, Lacerenza D, Aneli S, Di Gaetano C, Matullo G, Robledo R, Calò C. Robino C, et al. Among authors: lacerenza d. Forensic Sci Int Genet. 2018 Mar;33:e1-e3. doi: 10.1016/j.fsigen.2017.12.002. Epub 2017 Dec 5. Forensic Sci Int Genet. 2018. PMID: 29221994 Free article.
17 results