| A restricted spectrum of NRAS mutations causes Noonan syndrome IC Cirstea, K Kutsche, R Dvorsky, L Gremer, C Carta, D Horn, AE Roberts, ... Nature genetics 42 (1), 27-29, 2010 | 350 | 2010 |
| Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: Molecular diversity and associated phenotypic spectrum A Sarkozy, C Carta, S Moretti, G Zampino, MC Digilio, F Pantaleoni, ... Human mutation 30 (4), 695-702, 2009 | 338 | 2009 |
| Use of the MLPA assay in the molecular diagnosis of gene copy number alterations in human genetic diseases L Stuppia, I Antonucci, G Palka, V Gatta International journal of molecular sciences 13 (3), 3245-3276, 2012 | 320 | 2012 |
| Prevalence of chromosomal abnormalities in 2078 infertile couples referred for assisted reproductive techniques E Clementini, C Palka, I Iezzi, L Stuppia, P Guanciali-Franchi, GM Tiboni Human Reproduction 20 (2), 437-442, 2005 | 224 | 2005 |
| Epigenetics and male reproduction: the consequences of paternal lifestyle on fertility, embryo development, and children lifetime health L Stuppia, M Franzago, P Ballerini, V Gatta, I Antonucci Clinical epigenetics 7, 1-15, 2015 | 219 | 2015 |
| Nutrigenetics, epigenetics and gestational diabetes: consequences in mother and child M Franzago, F Fraticelli, L Stuppia, E Vitacolonna Epigenetics 14 (3), 215-235, 2019 | 190 | 2019 |
| Identification of deletions and duplications of the DMD gene in affected males and carrier females by multiple ligation probe amplification (MLPA) V Gatta, O Scarciolla, AR Gaspari, C Palka, MV De Angelis, A Di Muzio, ... Human genetics 117, 92-98, 2005 | 169 | 2005 |
| Genetics of syndromic and nonsyndromic cleft lip and palate L Stuppia, M Capogreco, G Marzo, D La Rovere, I Antonucci, V Gatta, ... Journal of Craniofacial Surgery 22 (5), 1722-1726, 2011 | 164 | 2011 |
| Amniotic fluid as a rich source of mesenchymal stromal cells for transplantation therapy I Antonucci, L Stuppia, Y Kaneko, S Yu, N Tajiri, EC Bae, SH Chheda, ... Cell transplantation 20 (6), 789-796, 2011 | 143 | 2011 |
| Microdeletions in interval 6 of the Y chromosome detected by STS-PCR in 6 of 33 patients with idiopathic oligo-or azoospermia L Stuppia, G Mastroprimiano, G Calabrese, R Peila, R Tenaglia, G Palka Cytogenetic and Genome Research 72 (2-3), 155-158, 1996 | 141 | 1996 |
| Folate gene polymorphisms and the risk of Down syndrome pregnancies in young Italian women F Coppedè, G Marini, S Bargagna, L Stuppia, F Minichilli, I Fontana, ... American journal of medical genetics Part A 140 (10), 1083-1091, 2006 | 126 | 2006 |
| 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 | 119 | 2010 |
| Wnt signaling behaves as a “master regulator” in the osteogenic and adipogenic commitment of human amniotic fluid mesenchymal stem cells I D’Alimonte, A Lannutti, C Pipino, P Di Tomo, L Pierdomenico, E Cianci, ... Stem Cell Reviews and Reports 9 (5), 642-654, 2013 | 111 | 2013 |
| A quarter of men with idiopathic oligo-azoospermia display chromosomal abnormalities and microdeletions of different types in interval 6 of Yq11 L Stuppia, V Gatta, G Calabrese, P Guanciali Franchi, E Morizio, ... Human genetics 102, 566-570, 1998 | 109 | 1998 |
| The methylenetethrahydrofolate reductase (MTHFR) C677T polymorphism and male infertility in Italy L Stuppia, V Gatta, O Scarciolla, A Colosimo, P Guanciali-Franchi, ... Journal of endocrinological Investigation 26, 620-622, 2003 | 106 | 2003 |
| C677T mutation in the 5, 10-MTHFR gene and risk of Down syndrome in Italy L Stuppia, V Gatta, AR Gaspari, I Antonucci, E Morizio, G Calabrese, ... European Journal of Human Genetics 10 (6), 388-390, 2002 | 102 | 2002 |
| Genes and diet in the prevention of chronic diseases in future generations M Franzago, D Santurbano, E Vitacolonna, L Stuppia International journal of molecular sciences 21 (7), 2633, 2020 | 95 | 2020 |
| Association of maternal polymorphisms in folate metabolizing genes with chromosome damage and risk of Down syndrome offspring F Coppedè, F Migheli, S Bargagna, G Siciliano, I Antonucci, L Stuppia, ... Neuroscience Letters 449 (1), 15-19, 2009 | 92 | 2009 |
| Spinal muscular atrophy genotyping by gene dosage using multiple ligation-dependent probe amplification O Scarciolla, L Stuppia, MV De Angelis, S Murru, C Palka, R Giuliani, ... Neurogenetics 7, 269-276, 2006 | 91 | 2006 |
| Widening of a Y-chromosome interval-6 deletion transmitted from a father to his infertile son accounts for an oligozoospermia critical region distal to the RBM1 and DAZ genes. L Stuppia, G Calabrese, PG Franchi, R Mingarelli, V Gatta, G Palka, ... American Journal of Human Genetics 59 (6), 1393, 1996 | 91 | 1996 |
