| Guidelines for management of glycogen storage disease type I–European Study on Glycogen Storage Disease Type I (ESGSD I) J Rake, G Visser, P Labrune, JV Leonard, K Ullrich, PG Smit European journal of pediatrics 161, S112-S119, 2002 | 271 | 2002 |
| (Epi) genotype–phenotype correlations in Beckwith–Wiedemann syndrome A Mussa, S Russo, A De Crescenzo, A Freschi, L Calzari, S Maitz, ... European journal of human genetics 24 (2), 183-190, 2016 | 161 | 2016 |
| Baraitser–Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases A Verloes, N Di Donato, J Masliah-Planchon, M Jongmans, ... European Journal of Human Genetics 23 (3), 292-301, 2015 | 159 | 2015 |
| Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in … M Koczkowska, T Callens, Y Chen, A Gomes, AD Hicks, A Sharp, E Johns, ... Human mutation 41 (1), 299-315, 2020 | 130 | 2020 |
| Estimated glomerular filtration rate, albuminuria and mortality in type 2 diabetes: the Casale Monferrato study G Bruno, F Merletti, G Bargero, G Novelli, D Melis, A Soddu, M Perotto, ... Diabetologia 50, 941-948, 2007 | 128 | 2007 |
| Nephrolithiasis in Cushing’s disease: prevalence, etiopathogenesis, and modification after disease cure A Faggiano, R Pivonello, D Melis, M Filippella, C Di Somma, M Petretta, ... The Journal of Clinical Endocrinology & Metabolism 88 (5), 2076-2080, 2003 | 122 | 2003 |
| Risk factors for hospital readmission of elderly patients C Franchi, A Nobili, D Mari, M Tettamanti, CD Djade, L Pasina, F Salerno, ... European journal of internal medicine 24 (1), 45-51, 2013 | 120 | 2013 |
| Mutation spectrum of MLL2 in a cohort of kabuki syndrome patients L Micale, B Augello, C Fusco, A Selicorni, MN Loviglio, MC Silengo, ... Orphanet journal of rare diseases 6, 1-8, 2011 | 112 | 2011 |
| Molecular analysis, pathogenic mechanisms, and readthrough therapy on a large cohort of K abuki syndrome patients L Micale, B Augello, C Maffeo, A Selicorni, F Zucchetti, C Fusco, ... Human mutation 35 (7), 841-850, 2014 | 111 | 2014 |
| 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 | 109 | 2014 |
| Genotype/phenotype correlation in glycogen storage disease type 1b: a multicentre study and review of the literature D Melis, R Fulceri, G Parenti, P Marcolongo, R Gatti, R Parini, E Riva, ... European journal of pediatrics 164, 501-508, 2005 | 105 | 2005 |
| A restricted spectrum of mutations in the SMAD4 tumor-suppressor gene underlies Myhre syndrome V Caputo, L Cianetti, M Niceta, C Carta, A Ciolfi, G Bocchinfuso, E Carrani, ... The American Journal of Human Genetics 90 (1), 161-169, 2012 | 101 | 2012 |
| Molecular and clinical heterogeneity in CLCN7‐dependent osteopetrosis: report of 20 novel mutations A Pangrazio, M Pusch, E Caldana, A Frattini, E Lanino, PM Tamhankar, ... Human mutation 31 (1), E1071-E1080, 2010 | 101 | 2010 |
| In vitro efficacy of ARQ 092, an allosteric AKT inhibitor, on primary fibroblast cells derived from patients with PIK3CA-related overgrowth spectrum (PROS) C Ranieri, S Di Tommaso, DC Loconte, V Grossi, P Sanese, R Bagnulo, ... Neurogenetics 19, 77-91, 2018 | 84 | 2018 |
| CREBBP mutations in individuals without Rubinstein–Taybi syndrome phenotype LA Menke, MJ van Belzen, M Alders, F Cristofoli, DDD Study, N Ehmke, ... American journal of medical genetics Part A 170 (10), 2681-2693, 2016 | 80 | 2016 |
| A multi-method approach to the molecular diagnosis of overt and borderline 11p15. 5 defects underlying Silver–Russell and Beckwith–Wiedemann syndromes S Russo, L Calzari, A Mussa, E Mainini, M Cassina, S Di Candia, ... Clinical epigenetics 8, 1-15, 2016 | 76 | 2016 |
| Nephrological findings and genotype–phenotype correlation in Beckwith–Wiedemann syndrome A Mussa, L Peruzzi, N Chiesa, A De Crescenzo, S Russo, D Melis, ... Pediatric Nephrology 27, 397-406, 2012 | 72 | 2012 |
| Brain damage in glycogen storage disease type I D Melis, G Parenti, R Della Casa, M Sibilio, A Romano, F Di Salle, ... The Journal of pediatrics 144 (5), 637-642, 2004 | 64 | 2004 |
| Aarskog–Scott syndrome: Clinical update and report of nine novel mutations of the FGD1 gene A Orrico, L Galli, L Faivre, J Clayton‐Smith, SM Azzarello‐Burri, JM Hertz, ... American Journal of Medical Genetics Part A 152 (2), 313-318, 2010 | 60 | 2010 |
| Increased prevalence of thyroid autoimmunity and hypothyroidism in patients with glycogen storage disease type I D Melis, R Pivonello, G Parenti, R Della Casa, M Salerno, G Lombardi, ... The Journal of pediatrics 150 (3), 300-305. e1, 2007 | 60 | 2007 |