| Parent-of-origin-specific signatures of de novo mutations JM Goldmann, WSW Wong, M Pinelli, T Farrah, D Bodian, AB Stittrich, ... Nature genetics 48 (8), 935-939, 2016 | 317 | 2016 |
| Post-zygotic point mutations are an underrecognized source of de novo genomic variation R Acuna-Hidalgo, T Bo, MP Kwint, M Van De Vorst, M Pinelli, JA Veltman, ... The American Journal of Human Genetics 97 (1), 67-74, 2015 | 270 | 2015 |
| DNA methylation in intron 1 of the frataxin gene is related to GAA repeat length and age of onset in Friedreich ataxia patients I Castaldo, M Pinelli, A Monticelli, F Acquaviva, M Giacchetti, A Filla, ... Journal of medical genetics 45 (12), 808-812, 2008 | 141 | 2008 |
| High-resolution analysis of the human retina miRNome reveals isomiR variations and novel microRNAs M Karali, M Persico, M Mutarelli, A Carissimo, M Pizzo, V Singh Marwah, ... Nucleic acids research 44 (4), 1525-1540, 2016 | 118 | 2016 |
| Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases B Zurek, K Ellwanger, LELM Vissers, R Schüle, M Synofzik, A Töpf, ... European Journal of Human Genetics 29 (9), 1325-1331, 2021 | 75 | 2021 |
| Recombinant human erythropoietin increases frataxin protein expression without increasing mRNA expression F Acquaviva, I Castaldo, A Filla, M Giacchetti, D Marmolino, A Monticelli, ... The Cerebellum 7, 360-365, 2008 | 71 | 2008 |
| Paralog studies augment gene discovery: DDX and DHX genes I Paine, JE Posey, CM Grochowski, SN Jhangiani, S Rosenheck, ... The American Journal of Human Genetics 105 (2), 302-316, 2019 | 70 | 2019 |
| Genetics of lipedema: new perspectives on genetic research and molecular diagnoses. S Paolacci, V Precone, F Acquaviva, P Chiurazzi, E Fulcheri, M Pinelli, ... European Review for Medical & Pharmacological Sciences 23 (13), 2019 | 70 | 2019 |
| An atlas of gene expression and gene co-regulation in the human retina M Pinelli, A Carissimo, L Cutillo, CH Lai, M Mutarelli, MN Moretti, ... Nucleic acids research 44 (12), 5773-5784, 2016 | 69 | 2016 |
| PPAR-γ agonist azelaoyl PAF increases frataxin protein and mRNA expression. New implications for the friedreich’s ataxia therapy D Marmolino, F Acquaviva, M Pinelli, A Monticelli, I Castaldo, A Filla, ... The Cerebellum 8, 98-103, 2009 | 65 | 2009 |
| Pro12Ala polymorphism of the PPARγ2 locus modulates the relationship between energy intake and body weight in type 2 diabetic patients O Vaccaro, E Lapice, A Monticelli, M Giacchetti, I Castaldo, R Galasso, ... Diabetes care 30 (5), 1156-1161, 2007 | 63 | 2007 |
| De novo heterozygous POLR2A variants cause a neurodevelopmental syndrome with profound infantile-onset hypotonia HA Haijes, MJE Koster, H Rehmann, D Li, H Hakonarson, G Cappuccio, ... The American Journal of Human Genetics 105 (2), 283-301, 2019 | 55 | 2019 |
| Aldo-Keto Reductase 1C1 (AKR1C1) as the First Mutated Gene in a Family with Nonsyndromic Primary Lipedema S Michelini, P Chiurazzi, V Marino, D Dell’Orco, E Manara, M Baglivo, ... International journal of molecular sciences 21 (17), 6264, 2020 | 52 | 2020 |
| Genome-wide scan for signatures of human population differentiation and their relationship with natural selection, functional pathways and diseases R Amato, M Pinelli, A Monticelli, D Marino, G Miele, S Cocozza PloS one 4 (11), e7927, 2009 | 52 | 2009 |
| Schizophrenia and vitamin D related genes could have been subject to latitude-driven adaptation R Amato, M Pinelli, A Monticelli, G Miele, S Cocozza BMC evolutionary biology 10, 1-12, 2010 | 48 | 2010 |
| Identification of candidate children for maturity-onset diabetes of the young type 2 (MODY2) gene testing: a seven-item clinical flowchart (7-iF) M Pinelli, F Acquaviva, F Barbetti, E Caredda, S Cocozza, M Delvecchio, ... PLoS One 8 (11), e79933, 2013 | 47 | 2013 |
| Improving the estimation of celiac disease sibling risk by non-HLA genes V Izzo, M Pinelli, N Tinto, MV Esposito, A Cola, MP Sperandeo, F Tucci, ... PloS one 6 (11), e26920, 2011 | 44 | 2011 |
| β2-adrenergic receptor and UCP3 variants modulate the relationship between age and type 2 diabetes mellitus M Pinelli, M Giacchetti, F Acquaviva, S Cocozza, G Donnarumma, ... BMC medical genetics 7, 1-9, 2006 | 43 | 2006 |
| Three de novo DDX3X variants associated with distinctive brain developmental abnormalities and brain tumor in intellectually disabled females M Scala, A Torella, M Severino, G Morana, R Castello, A Accogli, ... European Journal of Human Genetics 27 (8), 1254-1259, 2019 | 41 | 2019 |
| A systems genomics approach identifies SIGLEC15 as a susceptibility factor in recurrent vulvovaginal candidiasis M Jaeger, M Pinelli, M Borghi, C Constantini, M Dindo, L Van Emst, ... Science Translational Medicine 11 (496), eaar3558, 2019 | 41 | 2019 |
Sergio CocozzaProfessor of Medical Genetics, University of Naples (Italy)在 unina.it 的电子邮件经过验证
