Brunella Franco, MD
Brunella Franco, MD
Federico II University and Telethon Institute of Genetics and Medicine TIGEM, Naples Italy
Verified email at
Cited by
Cited by
Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)1
DJ Klionsky, AK Abdel-Aziz, S Abdelfatah, M Abdellatif, A Abdoli, S Abel, ...
autophagy 17 (1), 1-382, 2021
A gene deleted in Kallmann's syndrome shares homology with neural cell adhesion and axonal path-finding molecules
B Franco, S Guioli, A Pragliola, B Incerti, B Bardoni, R Tonlorenzi, ...
Nature 353 (6344), 529-536, 1991
Host response to EBV infection in X-linked lymphoproliferative disease results from mutations in an SH2-domain encoding gene
AJ Coffey, RA Brooksbank, O Brandau, T Oohashi, GR Howell, JM Bye, ...
Nature genetics 20 (2), 129-135, 1998
Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency
V Tiranti, K Hoertnagel, R Carrozzo, C Galimberti, M Munaro, ...
The American Journal of Human Genetics 63 (6), 1609-1621, 1998
Mutation analysis of the HLA-H gene in Italian hemochromatosis patients.
M Carella, L D'ambrosio, A Totaro, A Grifa, MA Valentino, A Piperno, ...
American journal of human genetics 60 (4), 828, 1997
Opitz G/BBB syndrome, a defect of midline development, is due to mutations in a new RING finger gene on Xp22
NA Quaderi, S Schweiger, K Gaudenz, B Franco, EI Rugarli, W Berger, ...
Nature genetics 17 (3), 285-291, 1997
Autophagy promotes primary ciliogenesis by removing OFD1 from centriolar satellites
Z Tang, MG Lin, TR Stowe, S Chen, M Zhu, T Stearns, B Franco, Q Zhong
Nature 502 (7470), 254-257, 2013
Identification of the gene for oral-facial-digital type I syndrome
MI Ferrante, SA Feather, A Bulfone, V Wright, M Ghiani, A Selicorni, ...
The American Journal of Human Genetics 68 (3), 569-576, 2001
Oral-facial-digital type I protein is required for primary cilia formation and left-right axis specification
MI Ferrante, A Zullo, A Barra, S Bimonte, N Messaddeq, M Studer, P Dollé, ...
Nature genetics 38 (1), 112-117, 2006
A cluster of sulfatase genes on Xp22. 3: mutations in chondrodysplasia punctata (CDPX) and implications for warfarin embryopathy
B Franco, G Meroni, G Parenti, J Levilliers, L Bernard, M Gebbia, L Cox, ...
Cell 81 (1), 15-25, 1995
Intragenic deletion of the KALIG-1 gene in Kallmann's syndrome
D Bick, B Franco, RJ Sherins, B Heye, L Pike, J Crawford, A Maddalena, ...
New England Journal of Medicine 326 (26), 1752-1755, 1992
An organelle-specific protein landscape identifies novel diseases and molecular mechanisms
K Boldt, J Van Reeuwijk, Q Lu, K Koutroumpas, TMT Nguyen, Y Texier, ...
Nature communications 7 (1), 11491, 2016
Activation of autophagy, observed in liver tissues from patients with Wilson disease and from ATP7B-deficient animals, protects hepatocytes from copper-induced apoptosis
EV Polishchuk, A Merolla, J Lichtmannegger, A Romano, A Indrieri, ...
Gastroenterology 156 (4), 1173-1189. e5, 2019
Oral–facial–digital syndromes: review and diagnostic guidelines
F Gurrieri, B Franco, H Toriello, G Neri
American Journal of Medical Genetics Part A 143 (24), 3314-3323, 2007
Identification and characterization of a novel serine–threonine kinase gene from the Xp22 region
E Montini, G Andolfi, A Caruso, G Buchner, SM Walpole, M Mariani, ...
Genomics 51 (3), 427-433, 1998
CDKL5/Stk9 kinase inactivation is associated with neuronal developmental disorders
C Lin, B Franco, MR Rosner
Human molecular genetics 14 (24), 3775-3786, 2005
The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation
C Thauvin-Robinet, JS Lee, E Lopez, V Herranz-Pérez, T Shida, B Franco, ...
Nature genetics 46 (8), 905-911, 2014
The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery
M Toriyama, C Lee, SP Taylor, I Duran, DH Cohn, AL Bruel, JM Tabler, ...
Nature genetics 48 (6), 648-656, 2016
Mutations in COX7B cause microphthalmia with linear skin lesions, an unconventional mitochondrial disease
A Indrieri, VA Van Rahden, V Tiranti, M Morleo, D Iaconis, R Tammaro, ...
The American Journal of Human Genetics 91 (5), 942-949, 2012
A gene from the Xp22. 3 region shares homology with voltage-gated chloride channels
MA Slegtenhorst, M T. Bassl, G Borsanil, MC Wapenaar, GB Ferrero, ...
Human molecular genetics 3 (4), 547-552, 1994
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