| Disruptions of topological chromatin domains cause pathogenic rewiring of gene-enhancer interactions DG Lupiáñez, K Kraft, V Heinrich, P Krawitz, F Brancati, E Klopocki, ... Cell 161 (5), 1012-1025, 2015 | 2061 | 2015 |
| Formation of new chromatin domains determines pathogenicity of genomic duplications M Franke, DM Ibrahim, G Andrey, W Schwarzer, V Heinrich, R Schöpflin, ... Nature 538 (7624), 265-269, 2016 | 667 | 2016 |
| Joubert Syndrome and related disorders F Brancati, B Dallapiccola, EM Valente Orphanet journal of rare diseases 5, 1-10, 2010 | 519 | 2010 |
| Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome EM Valente, JL Silhavy, F Brancati, G Barrano, SR Krishnaswami, ... Nature genetics 38 (6), 623-625, 2006 | 505 | 2006 |
| Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast‐flow vascular anomalies are caused by RASA1 mutations N Revencu, LM Boon, JB Mulliken, O Enjolras, MR Cordisco, PE Burrows, ... Human mutation 29 (7), 959-965, 2008 | 444 | 2008 |
| Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies SL Bielas, JL Silhavy, F Brancati, MV Kisseleva, L Al-Gazali, L Sztriha, ... Nature genetics 41 (9), 1032-1036, 2009 | 419 | 2009 |
| Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome V Cantagrel, JL Silhavy, SL Bielas, D Swistun, SE Marsh, JY Bertrand, ... The American Journal of Human Genetics 83 (2), 170-179, 2008 | 412 | 2008 |
| Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes EM Valente, CV Logan, S Mougou-Zerelli, JH Lee, JL Silhavy, F Brancati, ... Nature genetics 42 (7), 619-625, 2010 | 323 | 2010 |
| Mutations in PYCR1 cause cutis laxa with progeroid features B Reversade, N Escande-Beillard, A Dimopoulou, B Fischer, SC Chng, ... Nature genetics 41 (9), 1016-1021, 2009 | 260 | 2009 |
| Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontia A Sirmaci, M Spiliopoulos, F Brancati, E Powell, D Duman, A Abrams, ... The American Journal of Human Genetics 89 (2), 289-294, 2011 | 258 | 2011 |
| CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome–related disorders F Brancati, G Barrano, JL Silhavy, SE Marsh, L Travaglini, SL Bielas, ... The American Journal of Human Genetics 81 (1), 104-113, 2007 | 226 | 2007 |
| AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis CM Louie, G Caridi, VS Lopes, F Brancati, A Kispert, MA Lancaster, ... Nature genetics 42 (2), 175-180, 2010 | 203 | 2010 |
| CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium JE Lee, JL Silhavy, MS Zaki, J Schroth, SL Bielas, SE Marsh, J Olvera, ... Nature genetics 44 (2), 193-199, 2012 | 190 | 2012 |
| Genotypes and phenotypes of Joubert syndrome and related disorders EM Valente, F Brancati, B Dallapiccola European journal of medical genetics 51 (1), 1-23, 2008 | 185 | 2008 |
| A locus for autosomal dominant keratoconus maps to human chromosome 3p14–q13 F Brancati, EM Valente, A Sarkozy, J Fehèr, M Castori, P Del Duca, ... Journal of medical genetics 41 (3), 188-192, 2004 | 173 | 2004 |
| Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin HC Hennies, U Kornak, H Zhang, J Egerer, X Zhang, W Seifert, ... Nature genetics 40 (12), 1410-1412, 2008 | 172 | 2008 |
| Unbiased next generation sequencing analysis confirms the existence of autosomal dominant Alport syndrome in a relevant fraction of cases C Fallerini, L Dosa, R Tita, D Del Prete, S Feriozzi, G Gai, M Clementi, ... Clinical genetics 86 (3), 252-257, 2014 | 171 | 2014 |
| Clinical and molecular genetics of Leber's congenital amaurosis: a multicenter study of Italian patients F Simonelli, C Ziviello, F Testa, S Rossi, E Fazzi, PE Bianchi, M Fossarello, ... Investigative ophthalmology & visual science 48 (9), 4284-4290, 2007 | 169 | 2007 |
| PARK6‐linked parkinsonism occurs in several European families EM Valente, F Brancati, A Ferraris, EA Graham, MB Davis, MMB Breteler, ... Annals of Neurology: Official Journal of the American Neurological …, 2002 | 169 | 2002 |
| Diffusion tensor imaging in Joubert syndrome A Poretti, E Boltshauser, T Loenneker, EM Valente, F Brancati, K Il'Yasov, ... American journal of neuroradiology 28 (10), 1929-1933, 2007 | 158 | 2007 |
