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Cryptic deletions are a common finding in “balanced” reciprocal and complex chromosome rearrangements: a study of 59 patients M De Gregori, R Ciccone, P Magini, T Pramparo, S Gimelli, J Messa, ... Journal of medical genetics 44 (12), 750-762, 2007 | 352 | 2007 |
Multiple clinical forms of dehydrated hereditary stomatocytosis arise from mutations in PIEZO1 I Andolfo, SL Alper, L De Franceschi, C Auriemma, R Russo, L De Falco, ... Blood, The Journal of the American Society of Hematology 121 (19), 3925-3935, 2013 | 346 | 2013 |
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 | 270 | 2019 |
Molecular mechanisms generating and stabilizing terminal 22q13 deletions in 44 subjects with Phelan/McDermid syndrome MC Bonaglia, R Giorda, S Beri, C De Agostini, F Novara, M Fichera, ... PLoS genetics 7 (7), e1002173, 2011 | 222 | 2011 |
Monogenic variants in dystonia: an exome-wide sequencing study M Zech, R Jech, S Boesch, M Škorvánek, S Weber, M Wagner, C Zhao, ... The Lancet Neurology 19 (11), 908-918, 2020 | 182 | 2020 |
PRKACB and Carney complex A Forlino, A Vetro, L Garavelli, R Ciccone, E London, CA Stratakis, ... New England Journal of Medicine 370 (11), 1065-1067, 2014 | 159 | 2014 |
Identification of de novo mutations and rare variants in hypoplastic left heart syndrome M Iascone, R Ciccone, L Galletti, D Marchetti, F Seddio, AR Lincesso, ... Clinical genetics 81 (6), 542-554, 2012 | 131 | 2012 |
XX males SRY negative: a confirmed cause of infertility A Vetro, R Ciccone, R Giorda, MG Patricelli, E Della Mina, A Forlino, ... Journal of medical genetics 48 (10), 710-712, 2011 | 117 | 2011 |
Testis development in the absence of SRY: chromosomal rearrangements at SOX9 and SOX3 A Vetro, MR Dehghani, L Kraoua, R Giorda, S Beri, L Cardarelli, M Merico, ... European Journal of Human Genetics 23 (8), 1025-1032, 2015 | 90 | 2015 |
A 12 Mb deletion at 7q33–q35 associated with autism spectrum disorders and primary amenorrhea E Rossi, AP Verri, MG Patricelli, V Destefani, I Ricca, A Vetro, R Ciccone, ... European Journal of Medical Genetics 51 (6), 631-638, 2008 | 90 | 2008 |
The introduction of arrays in prenatal diagnosis: a special challenge A Vetro, K Bouman, R Hastings, DJ McMullan, JR Vermeesch, K Miller, ... Human mutation 33 (6), 923-929, 2012 | 87 | 2012 |
MCM5: a new actor in the link between DNA replication and Meier-Gorlin syndrome A Vetro, S Savasta, A Russo Raucci, C Cerqua, G Sartori, I Limongelli, ... European Journal of Human Genetics 25 (5), 646-650, 2017 | 80 | 2017 |
Current controversies in prenatal diagnosis 3: is conventional chromosome analysis necessary in the post‐array CGH era? TH Bui, A Vetro, O Zuffardi, LG Shaffer Prenatal Diagnosis 31 (3), 235-243, 2011 | 80 | 2011 |
The phenotype of recurrent 10q22q23 deletions and duplications BWM Van Bon, J Balciuniene, G Fruhman, SCS Nagamani, DL Broome, ... European journal of human genetics 19 (4), 400-408, 2011 | 79 | 2011 |
Improving molecular diagnosis in epilepsy by a dedicated high-throughput sequencing platform ED Mina, R Ciccone, F Brustia, B Bayindir, I Limongelli, A Vetro, ... European Journal of Human Genetics 23 (3), 354-362, 2015 | 75 | 2015 |
Deletions of the PRKAR1A Locus at 17q24.2-q24.3 in Carney Complex: Genotype-Phenotype Correlations and Implications for Genetic Testing P Salpea, A Horvath, E London, FR Faucz, A Vetro, I Levy, E Gourgari, ... The Journal of Clinical Endocrinology & Metabolism 99 (1), E183-E188, 2014 | 70 | 2014 |
SMARCA4 inactivating mutations cause concomitant Coffin–Siris syndrome, microphthalmia and small‐cell carcinoma of the ovary hypercalcaemic type E Errichiello, N Mustafa, A Vetro, LD Notarangelo, H de Jonge, B Rinaldi, ... The Journal of pathology 243 (1), 9-15, 2017 | 64 | 2017 |
Epilepsy subtype-specific copy number burden observed in a genome-wide study of 17 458 subjects LM Niestroj, E Perez-Palma, DP Howrigan, Y Zhou, F Cheng, ... Brain 143 (7), 2106-2118, 2020 | 63 | 2020 |
ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria A Vetro, HN Nielsen, R Holm, RF Hevner, E Parrini, Z Powis, RS Møller, ... Brain 144 (5), 1435-1450, 2021 | 61 | 2021 |