| DOMINO: using machine learning to predict genes associated with dominant disorders M Quinodoz, B Royer-Bertrand, K Cisarova, SA Di Gioia, A Superti-Furga, ... The American Journal of Human Genetics 101 (4), 623-629, 2017 | 104 | 2017 |
| Nonsense mutations in FAM161A cause RP28-associated recessive retinitis pigmentosa T Langmann, SA Di Gioia, I Rau, H Stöhr, NS Maksimovic, JC Corbo, ... The American Journal of Human Genetics 87 (3), 376-381, 2010 | 97 | 2010 |
| Analysis of the genetic basis of periodic fever with aphthous stomatitis, pharyngitis and cervical adenitis (PFAPA) syndrome SAD Gioia, N Bedoni, A von Scheven-Gête, F Vanoni, A Superti-Furga, ... Scientific reports 5 (1), 10200, 2015 | 96 | 2015 |
| A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome SA Di Gioia, S Connors, N Matsunami, J Cannavino, MF Rose, NM Gilette, ... Nature communications 8 (1), 16077, 2017 | 82 | 2017 |
| Loss of MAFB function in humans and mice causes Duane syndrome, aberrant extraocular muscle innervation, and inner-ear defects JG Park, MA Tischfield, AA Nugent, L Cheng, SA Di Gioia, WM Chan, ... The American Journal of Human Genetics 98 (6), 1220-1227, 2016 | 82 | 2016 |
| FAM161A, associated with retinitis pigmentosa, is a component of the cilia-basal body complex and interacts with proteins involved in ciliopathies SA Di Gioia, SJF Letteboer, C Kostic, D Bandah-Rozenfeld, L Hetterschijt, ... Human molecular genetics 21 (23), 5174-5184, 2012 | 63 | 2012 |
| Mutations in CEP78 cause cone-rod dystrophy and hearing loss associated with primary-cilia defects K Nikopoulos, P Farinelli, B Giangreco, C Tsika, B Royer-Bertrand, ... The American Journal of Human Genetics 99 (3), 770-776, 2016 | 50 | 2016 |
| Exome sequencing extends the phenotypic spectrum for ABHD12 mutations: from syndromic to nonsyndromic retinal degeneration KM Nishiguchi, A Avila-Fernandez, RAC Van Huet, M Corton, ... Ophthalmology 121 (8), 1620-1627, 2014 | 50 | 2014 |
| RanBP1 downregulation sensitizes cancer cells to taxol in a caspase-3-dependent manner WM Rensen, E Roscioli, A Tedeschi, R Mangiacasale, M Ciciarello, ... Oncogene 28 (15), 1748-1758, 2009 | 47 | 2009 |
| The Liberfarb syndrome, a multisystem disorder affecting eye, ear, bone, and brain development, is caused by a founder pathogenic variant in the PISD gene VG Peter, M Quinodoz, J Pinto-Basto, SB Sousa, SA Di Gioia, G Soares, ... Genetics in medicine 21 (12), 2734-2743, 2019 | 38 | 2019 |
| Identification of two novel mutations in CDHR1 in consanguineous Spanish families with autosomal recessive retinal dystrophy K Nikopoulos, A Avila-Fernandez, M Corton, MI Lopez-Molina, ... Scientific reports 5 (1), 13902, 2015 | 29 | 2015 |
| Interactome analysis reveals that FAM161A, deficient in recessive retinitis pigmentosa, is a component of the Golgi-centrosomal network SA Di Gioia, P Farinelli, SJF Letteboer, Y Arsenijevic, D Sharon, ... Human molecular genetics 24 (12), 3359-3371, 2015 | 26 | 2015 |
| Molecular genetics of FAM161A in North American patients with early-onset retinitis pigmentosa G Venturini, SA Di Gioia, S Harper, C Weigel-DiFranco, C Rivolta, ... PLoS One 9 (3), e92479, 2014 | 15 | 2014 |
| Recessive MYF5 mutations cause external ophthalmoplegia, rib, and vertebral anomalies SA Di Gioia, S Shaaban, B Tüysüz, NH Elcioglu, WM Chan, CD Robson, ... The American Journal of Human Genetics 103 (1), 115-124, 2018 | 13 | 2018 |
| Decreased ACKR3 (CXCR7) function causes oculomotor synkinesis in mice and humans MC Whitman, N Miyake, EH Nguyen, JL Bell, PM Matos Ruiz, WM Chan, ... Human molecular genetics 28 (18), 3113-3125, 2019 | 11 | 2019 |
| Recurrent rare copy number variants increase risk for Esotropia MC Whitman, SA Di Gioia, WM Chan, A Gelber, BM Pratt, JL Bell, ... Investigative Ophthalmology & Visual Science 61 (10), 22-22, 2020 | 10 | 2020 |
| ANGPTL7, a therapeutic target for increased intraocular pressure and glaucoma K Praveen, GC Patel, L Gurski, AH Ayer, T Persaud, MD Still, L Miloscio, ... Communications biology 5 (1), 1051, 2022 | 9 | 2022 |
| Recessive variants in COL25A1 gene as novel cause of arthrogryposis multiplex congenita with ocular congenital cranial dysinnervation disorder D Natera‐de Benito, JA Jurgens, A Yeung, IT Zaharieva, A Manzur, ... Human mutation 43 (4), 487-498, 2022 | 9 | 2022 |
| Noncoding variants alter GATA2 expression in rhombomere 4 motor neurons and cause dominant hereditary congenital facial paresis AP Tenney, SA Di Gioia, BD Webb, WM Chan, E de Boer, SJ Garnai, ... Nature genetics 55 (7), 1149-1163, 2023 | 7 | 2023 |
| Ultra high throughput sequencing excludes MDH1 as candidate gene for RP28-linked retinitis pigmentosa TR Frio, S Panek, C Iseli, SA Di Gioia, A Kumar, A Gal, C Rivolta Molecular vision 15, 2627, 2009 | 5 | 2009 |
