Francesco Brancati
Francesco Brancati
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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
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
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
Joubert Syndrome and related disorders
F Brancati, B Dallapiccola, EM Valente
Orphanet journal of rare diseases 5, 1-10, 2010
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
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
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
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
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
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
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
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
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
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
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
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
A locus for autosomal dominant keratoconus maps to human chromosome 3p14–q13
F Brancati, EM Valente, A Sarkozy, J Feher, M Castori, P Del Duca, ...
Journal of medical genetics 41 (3), 188-192, 2004
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
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
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
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