| Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11. 2 locus S Jacquemont, A Reymond, F Zufferey, L Harewood, RG Walters, ... Nature 478 (7367), 97-102, 2011 | 530 | 2011 |
| A 600 kb deletion syndrome at 16p11. 2 leads to energy imbalance and neuropsychiatric disorders F Zufferey, EH Sherr, ND Beckmann, E Hanson, AM Maillard, L Hippolyte, ... Journal of medical genetics 49 (10), 660-668, 2012 | 308 | 2012 |
| Confirmation of chromosomal microarray as a first-tier clinical diagnostic test for individuals with developmental delay, intellectual disability, autism spectrum disorders and … A Battaglia, V Doccini, L Bernardini, A Novelli, S Loddo, A Capalbo, ... European Journal of Paediatric Neurology 17 (6), 589-599, 2013 | 264 | 2013 |
| Histone lysine methylases and demethylases in the landscape of human developmental disorders V Faundes, WG Newman, L Bernardini, N Canham, J Clayton-Smith, ... The American Journal of Human Genetics 102 (1), 175-187, 2018 | 205 | 2018 |
| Human neural stem cell transplantation in ALS: initial results from a phase I trial L Mazzini, M Gelati, DC Profico, G Sgaravizzi, M Projetti Pensi, G Muzi, ... Journal of translational medicine 13, 1-16, 2015 | 194 | 2015 |
| Recurrent microdeletion at 17q12 as a cause of Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome: two case reports L Bernardini, S Gimelli, C Gervasini, M Carella, A Baban, G Frontino, ... Orphanet journal of rare diseases 4, 1-6, 2009 | 159 | 2009 |
| Mutations in PVRL4, encoding cell adhesion molecule nectin-4, cause ectodermal dysplasia-syndactyly syndrome F Brancati, P Fortugno, I Bottillo, M Lopez, E Josselin, ... The American Journal of Human Genetics 87 (2), 265-273, 2010 | 120 | 2010 |
| ACTB loss-of-function mutations result in a pleiotropic developmental disorder S Cuvertino, HM Stuart, KE Chandler, NA Roberts, R Armstrong, ... The American Journal of Human Genetics 101 (6), 1021-1033, 2017 | 108 | 2017 |
| Permanent diabetes during the first year of life: multiple gene screening in 54 patients L Russo, D Iafusco, S Brescianini, V Nocerino, C Bizzarri, S Toni, F Cerutti, ... Diabetologia 54, 1693-1701, 2011 | 106 | 2011 |
| COVID-19: neonatal–perinatal perspectives A Barrero-Castillero, KS Beam, LB Bernardini, EGC Ramos, ... Journal of Perinatology 41 (5), 940-951, 2021 | 103 | 2021 |
| Mutations in ZBTB20 cause Primrose syndrome V Cordeddu, B Redeker, E Stellacci, A Jongejan, A Fragale, TEJ Bradley, ... Nature genetics 46 (8), 815-817, 2014 | 101 | 2014 |
| High-resolution SNP arrays in mental retardation diagnostics: how much do we gain? L Bernardini, V Alesi, S Loddo, A Novelli, I Bottillo, A Battaglia, MC Digilio, ... European Journal of Human Genetics 18 (2), 178-185, 2010 | 96 | 2010 |
| Deletions of NF1 gene and exons detected by multiplex ligation-dependent probe amplification A De Luca, I Bottillo, MC Dasdia, A Morella, V Lanari, L Bernardini, ... Journal of medical genetics 44 (12), 800-808, 2007 | 91 | 2007 |
| Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes MN Loviglio, M Leleu, K Männik, M Passeggeri, G Giannuzzi, ... Molecular Psychiatry 22 (6), 836-849, 2017 | 89 | 2017 |
| Novel and recurrent EVC and EVC2 mutations in Ellis-van Creveld syndrome and Weyers acrofacial dyostosis MC D'Asdia, I Torrente, F Consoli, R Ferese, M Magliozzi, L Bernardini, ... European journal of medical genetics 56 (2), 80-87, 2013 | 84 | 2013 |
| Microarray application in prenatal diagnosis: a position statement from the cytogenetics working group of the Italian Society of Human Genetics (SIGU), November 2011 A Novelli, FR Grati, L Ballarati, L Bernardini, D Bizzoco, L Camurri, ... Ultrasound in obstetrics & gynecology 39 (4), 384-388, 2012 | 83 | 2012 |
| SHOX duplications found in some cases with type I Mayer-Rokitansky-Kuster-Hauser syndrome C Gervasini, FR Grati, F Lalatta, S Tabano, B Gentilin, P Colapietro, ... Genetics in Medicine 12 (10), 634-640, 2010 | 82 | 2010 |
| Results from phase I clinical trial with intraspinal injection of neural stem cells in amyotrophic lateral sclerosis: a long-term outcome L Mazzini, M Gelati, DC Profico, G Sorarù, D Ferrari, M Copetti, G Muzi, ... Stem Cells Translational Medicine 8 (9), 887-897, 2019 | 79 | 2019 |
| Spectrum of epilepsy in terminal 1p36 deletion syndrome N Bahi‐Buisson, E Guttierrez‐Delicado, C Soufflet, M Rio, ... Epilepsia 49 (3), 509-515, 2008 | 79 | 2008 |
| Array‐based comparative genomic hybridization in early‐stage mycosis fungoides: recurrent deletion of tumor suppressor genes BCL7A, SMAC/DIABLO, and RHOF A Carbone, L Bernardini, F Valenzano, I Bottillo, C De Simone, R Capizzi, ... Genes, Chromosomes and Cancer 47 (12), 1067-1075, 2008 | 71 | 2008 |
