| 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 | 553 | 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 | 179 | 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 | 44 | 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 | 28 | 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 | 25 | 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 | 21 | 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 | 20 | 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 | 19 | 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 | 15 | 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 | 12 | 2010 |
| 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 (1), 8078103, 2020 | 9 | 2020 |
| STXBP6 gene mutation: a new form of SNAREopathy leads to developmental epileptic encephalopathy M Vinci, C Costanza, R Galati Rando, S Treccarichi, S Saccone, ... International Journal of Molecular Sciences 24 (22), 16436, 2023 | 7 | 2023 |
| 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 | 7 | 2022 |
| 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 | 7 | 2020 |
| 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 |
| 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 | 6 | 2021 |
| 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 |
| Prader–Willi Syndrome with Angelman Syndrome in the Offspring D Greco, L Vetri, L Ragusa, M Vinci, A Gloria, P Occhipinti, AA Costanzo, ... Medicina 57 (5), 460, 2021 | 5 | 2021 |
| GRIN2A: involvement in movement disorders and intellectual disability without seizures AG Nicotera, F Calì, M Vinci, SA Musumeci Neurological Sciences 40 (11), 2405-2406, 2019 | 5 | 2019 |
Maurizio EliaOasi Research Institute - IRCCS, Troina, Italy在 oasi.en.it 的电子邮件经过验证
