Jose L Badano
Jose L Badano
Head Human Molecular Genetics Laboratory, Institut Pasteur de Montevideo
Verified email at
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The ciliopathies: an emerging class of human genetic disorders
JL Badano, N Mitsuma, PL Beales, N Katsanis
Annu. Rev. Genomics Hum. Genet. 7 (1), 125-148, 2006
Basal body dysfunction is a likely cause of pleiotropic Bardet–Biedl syndrome
SJ Ansley, JL Badano, OE Blacque, J Hill, BE Hoskins, CC Leitch, ...
Nature 425 (6958), 628-633, 2003
Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder
N Katsanis, SJ Ansley, JL Badano, ER Eichers, RA Lewis, BE Hoskins, ...
Science 293 (5538), 2256-2259, 2001
Beyond Mendel: an evolving view of human genetic disease transmission
JL Badano, N Katsanis
Nature Reviews Genetics 3 (10), 779-789, 2002
Disruption of the basal body compromises proteasomal function and perturbs intracellular Wnt response
JM Gerdes, Y Liu, NA Zaghloul, CC Leitch, SS Lawson, M Kato, ...
Nature genetics 39 (11), 1350-1360, 2007
Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome
CC Leitch, NA Zaghloul, EE Davis, C Stoetzel, A Diaz-Font, S Rix, ...
Nature genetics 40 (4), 443-448, 2008
The Bardet-Biedl protein BBS4 targets cargo to the pericentriolar region and is required for microtubule anchoring and cell cycle progression
JC Kim, JL Badano, S Sibold, MA Esmail, J Hill, BE Hoskins, CC Leitch, ...
Nature genetics 36 (5), 462-470, 2004
Loss of C. elegans BBS-7 and BBS-8 protein function results in cilia defects and compromised intraflagellar transport
OE Blacque, MJ Reardon, C Li, J McCarthy, MR Mahjoub, SJ Ansley, ...
Genes & development 18 (13), 1630-1642, 2004
Loss of BBS proteins causes anosmia in humans and defects in olfactory cilia structure and function in the mouse
HM Kulaga, CC Leitch, ER Eichers, JL Badano, A Lesemann, BE Hoskins, ...
Nature genetics 36 (9), 994-998, 2004
Mutations in a member of the Ras superfamily of small GTP-binding proteins causes Bardet-Biedl syndrome
Y Fan, MA Esmail, SJ Ansley, OE Blacque, K Boroevich, AJ Ross, ...
Nature genetics 36 (9), 989-993, 2004
BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus
C Stoetzel, V Laurier, EE Davis, J Muller, S Rix, JL Badano, CC Leitch, ...
Nature genetics 38 (5), 521-524, 2006
The Meckel–Gruber syndrome proteins MKS1 and meckelin interact and are required for primary cilium formation
HR Dawe, UM Smith, AR Cullinane, D Gerrelli, P Cox, JL Badano, ...
Human molecular genetics 16 (2), 173-186, 2007
Dissection of epistasis in oligogenic Bardet–Biedl syndrome
JL Badano, CC Leitch, SJ Ansley, H May-Simera, S Lawson, RA Lewis, ...
Nature 439 (7074), 326-330, 2006
Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome
PL Beales, JL Badano, AJ Ross, SJ Ansley, BE Hoskins, B Kirsten, ...
The American Journal of Human Genetics 72 (5), 1187-1199, 2003
The centrosome in human genetic disease
JL Badano, TM Teslovich, N Katsanis
Nature Reviews Genetics 6 (3), 194-205, 2005
Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2
JL Badano, SJ Ansley, CC Leitch, RA Lewis, JR Lupski, N Katsanis
The American Journal of Human Genetics 72 (3), 650-658, 2003
Heterozygous mutations in BBS1, BBS2 and BBS6 have a potential epistatic effect on Bardet–Biedl patients with two mutations at a second BBS locus
JL Badano, JC Kim, BE Hoskins, RA Lewis, SJ Ansley, DJ Cutler, ...
Human molecular genetics 12 (14), 1651-1659, 2003
Ciliary biology: understanding the cellular and genetic basis of human ciliopathies
M Cardenas‐Rodriguez, JL Badano
American Journal of Medical Genetics Part C: Seminars in Medical Genetics …, 2009
MKKS/BBS6, a divergent chaperonin-like protein linked to the obesity disorder Bardet-Biedl syndrome, is a novel centrosomal component required for cytokinesis
JC Kim, YY Ou, JL Badano, MA Esmail, CC Leitch, E Fiedrich, PL Beales, ...
Journal of cell science 118 (5), 1007-1020, 2005
Functional analyses of variants reveal a significant role for dominant negative and common alleles in oligogenic Bardet–Biedl syndrome
NA Zaghloul, Y Liu, JM Gerdes, C Gascue, EC Oh, CC Leitch, Y Bromberg, ...
Proceedings of the National Academy of Sciences 107 (23), 10602-10607, 2010
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