| Consanguineous marriages, pearls and perils: Geneva international consanguinity workshop report H Hamamy, SE Antonarakis, LL Cavalli-Sforza, S Temtamy, G Romeo, ... Genetics in Medicine 13 (9), 841-847, 2011 | 445 | 2011 |
| Mutations in ANKRD26 are responsible for a frequent form of inherited thrombocytopenia: analysis of 78 patients from 21 families P Noris, S Perrotta, M Seri, A Pecci, C Gnan, G Loffredo, N Pujol-Moix, ... Blood, The Journal of the American Society of Hematology 117 (24), 6673-6680, 2011 | 328 | 2011 |
| ACE2 gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population E Benetti, R Tita, O Spiga, A Ciolfi, G Birolo, A Bruselles, G Doddato, ... European Journal of Human Genetics 28 (11), 1602-1614, 2020 | 280 | 2020 |
| Ultra-rare genetic variation in the epilepsies: a whole-exome sequencing study of 17,606 individuals YCA Feng, DP Howrigan, LE Abbott, K Tashman, F Cerrato, T Singh, ... The American Journal of Human Genetics 105 (2), 267-282, 2019 | 274 | 2019 |
| Mutations in the 5′ UTR of ANKRD26, the ankirin repeat domain 26 gene, cause an autosomal-dominant form of inherited thrombocytopenia, THC2 T Pippucci, A Savoia, S Perrotta, N Pujol-Moix, P Noris, G Castegnaro, ... The American Journal of Human Genetics 88 (1), 115-120, 2011 | 254 | 2011 |
| EXCAVATOR: detecting copy number variants from whole-exome sequencing data A Magi, L Tattini, I Cifola, R D’Aurizio, M Benelli, E Mangano, C Battaglia, ... Genome biology 14, 1-18, 2013 | 253 | 2013 |
| Mutations in the mammalian target of rapamycin pathway regulators NPRL2 and NPRL3 cause focal epilepsy MG Ricos, BL Hodgson, T Pippucci, A Saidin, YS Ong, SE Heron, ... Annals of neurology 79 (1), 120-131, 2016 | 230 | 2016 |
| The landscape of epilepsy-related GATOR1 variants S Baldassari, F Picard, NE Verbeek, M van Kempen, EH Brilstra, G Lesca, ... Genetics in Medicine 21 (2), 398-408, 2019 | 222 | 2019 |
| Recurrent de novo and biallelic variation of ATAD3A, encoding a mitochondrial membrane protein, results in distinct neurological syndromes T Harel, WH Yoon, C Garone, S Gu, Z Coban-Akdemir, MK Eldomery, ... The American Journal of Human Genetics 99 (4), 831-845, 2016 | 186 | 2016 |
| Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2 MA Corbett, T Kroes, L Veneziano, MF Bennett, R Florian, AL Schneider, ... Nature communications 10 (1), 4920, 2019 | 138 | 2019 |
| H 3 M 2 : detection of runs of homozygosity from whole-exome sequencing data A Magi, L Tattini, F Palombo, M Benelli, A Gialluisi, B Giusti, R Abbate, ... Bioinformatics 30 (20), 2852-2859, 2014 | 123 | 2014 |
| Clinical and pathogenic features of ETV6-related thrombocytopenia with predisposition to acute lymphoblastic leukemia F Melazzini, F Palombo, A Balduini, D De Rocco, C Marconi, P Noris, ... Haematologica 101 (11), 1333, 2016 | 122 | 2016 |
| Read count approach for DNA copy number variants detection A Magi, L Tattini, T Pippucci, F Torricelli, M Benelli Bioinformatics 28 (4), 470-478, 2012 | 108 | 2012 |
| Enhanced copy number variants detection from whole-exome sequencing data using EXCAVATOR2 R D'Aurizio, T Pippucci, L Tattini, B Giusti, M Pellegrini, A Magi Nucleic acids research 44 (20), e154-e154, 2016 | 103 | 2016 |
| Mutations in RAD21 disrupt regulation of APOB in patients with chronic intestinal pseudo-obstruction E Bonora, F Bianco, L Cordeddu, M Bamshad, L Francescatto, D Dowless, ... Gastroenterology 148 (4), 771-782. e11, 2015 | 95 | 2015 |
| A novel null homozygous mutation confirms CACNA2D2 as a gene mutated in epileptic encephalopathy T Pippucci, A Parmeggiani, F Palombo, A Maresca, A Angius, L Crisponi, ... PloS one 8 (12), e82154, 2013 | 93 | 2013 |
| SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorder V Del Dotto, F Ullah, I Di Meo, P Magini, M Gusic, A Maresca, L Caporali, ... The Journal of clinical investigation 130 (1), 108-125, 2020 | 92 | 2020 |
| GATOR1 complex: the common genetic actor in focal epilepsies S Baldassari, L Licchetta, P Tinuper, F Bisulli, T Pippucci Journal of Medical Genetics 53 (8), 503-510, 2016 | 88 | 2016 |
| Analysis of 339 pregnancies in 181 women with 13 different forms of inherited thrombocytopenia P Noris, N Schlegel, C Klersy, PG Heller, E Civaschi, N Pujol-Moix, ... haematologica 99 (8), 1387, 2014 | 79 | 2014 |
| ACTN1-related thrombocytopenia: identification of novel families for phenotypic characterization R Bottega, C Marconi, M Faleschini, G Baj, C Cagioni, A Pecci, T Pippucci, ... Blood, The Journal of the American Society of Hematology 125 (5), 869-872, 2015 | 76 | 2015 |
Marco SeriProfessore di Genetica Medica, Università di BolognaVerifisert e-postadresse på unibo.it
