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Tommaso Pippucci
Tommaso Pippucci
IRCCS Azienda Ospedaliero-Universitaria di Bologna, Policlinico Sant'Orsola-Malpighi, Bologna, Italy
Verified email at unibo.it
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Cited by
Cited by
Year
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
4042011
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
3172011
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
2662020
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
2502013
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
2362011
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
2242019
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
2082016
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
1872019
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
1692016
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
1212019
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
1182014
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
1132016
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
1092012
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
882016
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
842015
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
842013
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
782016
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
742020
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
722014
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
672015
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