| Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases HAF Stessman, BO Xiong, BP Coe, T Wang, K Hoekzema, M Fenckova, ... Nature genetics 49 (4), 515-526, 2017 | 513 | 2017 |
| Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains MR Geisheker, G Heymann, T Wang, BP Coe, TN Turner, HAF Stessman, ... Nature neuroscience 20 (8), 1043-1051, 2017 | 171 | 2017 |
| A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency S Jansen, A Hoischen, BP Coe, GL Carvill, H Van Esch, DGM Bosch, ... European journal of human genetics 26 (1), 54-63, 2018 | 39 | 2018 |
| A de novo heterozygous mutation in KCNC2 gene implicated in severe developmental and epileptic encephalopathy L Vetri, F Calì, M Vinci, C Amato, M Roccella, T Granata, E Freri, R Solazzi, ... European Journal of Medical Genetics 63 (4), 103848, 2020 | 26 | 2020 |
| The epilepsy phenotypic spectrum associated with a recurrent CUX2 variant N Chatron, RS Møller, NL Champaigne, AL Schneider, A Kuechler, ... Annals of neurology 83 (5), 926-934, 2018 | 24 | 2018 |
| Exon deletions of the phenylalanine hydroxylase gene in Italian hyperphenylalaninemics F Calì, G Ruggeri, M Vinci, C Meli, C Carducci, V Leuzzi, S Pozzessere, ... Experimental & Molecular Medicine 42 (2), 81-86, 2010 | 20 | 2010 |
| Definition of minimal duplicated region encompassing the XIAP and STAG2 genes in the Xq25 microduplication syndrome D Di Benedetto, SA Musumeci, E Avola, A Alberti, S Buono, C Scuderi, ... American Journal of Medical Genetics Part A 164 (8), 1923-1930, 2014 | 19 | 2014 |
| Biallelic intragenic duplication in ADGRB3 (BAI3) gene associated with intellectual disability, cerebellar atrophy, and behavioral disorder C Scuderi, L Saccuzzo, M Vinci, L Castiglia, O Galesi, M Salemi, T Mattina, ... European Journal of Human Genetics 27 (4), 594-602, 2019 | 17 | 2019 |
| Intragenic ILRAPL1 deletion in a male patient with intellectual disability, mild dysmorphic signs, deafness, and behavioral problems C Barone, S Bianca, D Luciano, D Di Benedetto, M Vinci, M Fichera American Journal of Medical Genetics Part A 161 (6), 1381-1385, 2013 | 17 | 2013 |
| Interpreting genetic variants: hints from a family cluster of Parkinson’s disease F Cali, M Cantone, FII Cosentino, G Lanza, G Ruggeri, V Chiavetta, ... Journal of Parkinson's Disease 9 (1), 203-206, 2019 | 13 | 2019 |
| Novel deletion of the E3A ubiquitin protein ligase gene detected by multiplex ligation-dependent probe amplification in a patient with Angelman syndrome F Calì, A Ragalmuto, V Chiavetta, G Calabrese, M Fichera, M Vinci, ... Experimental & molecular medicine 42 (12), 842-848, 2010 | 11 | 2010 |
| Novel c. C2254T (p. Q752*) mutation in ZFYVE26 (SPG15) gene in a patient with hereditary spastic paraparesis M Vinci, M Fichera, SA Musumeci, F Cali, GA Vitello Journal of genetics 97 (5), 1469-1472, 2018 | 7 | 2018 |
| A Customized next-generation sequencing-based panel to identify novel genetic variants in dementing disorders: a pilot study G Lanza, F Calì, M Vinci, FII Cosentino, M Tripodi, RS Spada, M Cantone, ... Neural Plasticity 2020, 2020 | 6 | 2020 |
| A de novo mutation of KRT1 in a baby girl causing epidermolytic ichthyosis with impressive epidermolytic palmoplantar keratoderma F Calì, P Failla, M Vinci, M Siragusa, C Schepis Dermatology online journal 26 (7), 2020 | 6 | 2020 |
| Identification of a Novel Missense Mutation of POLR3A Gene in a Cohort of Sicilian Patients with Leukodystrophy A Musumeci, F Calì, C Scuderi, M Vinci, GA Vitello, SA Musumeci, ... Biomedicines 10 (9), 2276, 2022 | 5 | 2022 |
| Allelic Variations in the Human Genes TMPRSS2 and CCR5, and the Resistance to Viral Infection by SARS-CoV-2 GA Vitello, C Federico, F Bruno, M Vinci, A Musumeci, A Ragalmuto, ... International Journal of Molecular Sciences 23 (16), 9171, 2022 | 5 | 2022 |
| Implementation of sample pooling procedure using a rapid SARS-CoV-2 diagnostic Real-Time PCR test performed prior to hospital admission of people with intellectual disabilities A Musumeci, M Vinci, F L’Episcopo, A Ragalmuto, V Neri, M Roccella, ... International Journal of Environmental Research and Public Health 18 (17), 9317, 2021 | 5 | 2021 |
| Familial 1q22 microduplication associated with psychiatric disorders, intellectual disability and late-onset autoimmune inflammatory response M Fichera, R Barone, L Grillo, M De Grandi, V Fiore, I Morana, ... Molecular Cytogenetics 7, 1-6, 2014 | 5 | 2014 |
| PHF21A Related Disorder: Description of a New Case A Butera, AG Nicotera, G Di Rosa, SA Musumeci, GA Vitello, A Musumeci, ... International Journal of Molecular Sciences 23 (24), 16130, 2022 | 4 | 2022 |
| Role of COMT V158M polymorphism in the development of dystonia after administration of antipsychotic drugs AG Nicotera, G Di Rosa, L Turriziani, MC Costanzo, E Stracuzzi, ... Brain Sciences 11 (10), 1293, 2021 | 4 | 2021 |
Maurizio EliaOasi Research Institute - IRCCS, Troina, ItalyBestätigte E-Mail-Adresse bei oasi.en.it
