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The ciliopathies: an emerging class of human genetic disorders.
José L. Badano,
N. Mitsuma,
P. Beales,
N. Katsanis
|
10 |
2006 |
10
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Basal body dysfunction is a likely cause of pleiotropic Bardet–Biedl syndrome
17 auth.
S. J. Ansley,
José L. Badano,
O. Blacque,
Josephine Hill,
B. Hoskins,
C. C. Leitch,
Jun Chul Kim,
A. Ross,
E. Eichers,
Tanya M. Teslovich,
...
A. Mah,
R. Johnsen,
J. Cavender,
R. Lewis,
M. Leroux,
P. Beales,
N. Katsanis
|
9 |
2003 |
9
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Triallelic Inheritance in Bardet-Biedl Syndrome, a Mendelian Recessive Disorder
10 auth.
N. Katsanis,
S. J. Ansley,
José L. Badano,
E. Eichers,
R. Lewis,
B. Hoskins,
...
P. Scambler,
W. Davidson,
P. Beales,
J. Lupski
|
9 |
2001 |
9
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Disruption of the basal body compromises proteasomal function and perturbs intracellular Wnt response
12 auth.
J. Gerdes,
Yangfan P Liu,
N. Zaghloul,
C. C. Leitch,
Shaneka Lawson,
Masaki Kato,
...
P. Beachy,
P. Beales,
G. Demartino,
S. Fisher,
José L. Badano,
N. Katsanis
|
8 |
2007 |
8
🐜
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|
🐜
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Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome
14 auth.
C. C. Leitch,
N. Zaghloul,
E. Davis,
C. Stoetzel,
A. Díaz-Font,
S. Rix,
M. Alfadhel,
R. Lewis,
W. Eyaid,
E. Banin,
...
H. Dollfus,
P. Beales,
José L. Badano,
N. Katsanis
|
8 |
2008 |
8
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|
|
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The Bardet-Biedl protein BBS4 targets cargo to the pericentriolar region and is required for microtubule anchoring and cell cycle progression
13 auth.
Jun Chul Kim,
José L. Badano,
S. Sibold,
M. Esmail,
Josephine Hill,
B. Hoskins,
C. C. Leitch,
K. Venner,
S. J. Ansley,
A. Ross,
...
M. Leroux,
N. Katsanis,
P. Beales
|
8 |
2004 |
8
🐜
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|
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Loss of C. elegans BBS-7 and BBS-8 protein function results in cilia defects and compromised intraflagellar transport.
18 auth.
O. Blacque,
M. Reardon,
Chunmei Li,
Jonathan McCarthy,
M. Mahjoub,
S. J. Ansley,
José L. Badano,
A. Mah,
P. Beales,
W. Davidson,
...
R. Johnsen,
M. Audeh,
R. Plasterk,
D. Baillie,
N. Katsanis,
L. Quarmby,
S. R. Wicks,
M. Leroux
|
8 |
2004 |
8
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|
🐜
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Loss of BBS proteins causes anosmia in humans and defects in olfactory cilia structure and function in the mouse
10 auth.
H. Kulaga,
C. C. Leitch,
E. Eichers,
José L. Badano,
Alysa Lesemann,
B. Hoskins,
...
J. Lupski,
P. Beales,
R. Reed,
N. Katsanis
|
8 |
2004 |
8
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|
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Human genetics and disease: Beyond Mendel: an evolving view of human genetic disease transmission
José L. Badano,
N. Katsanis
|
8 |
2002 |
8
🦁
|
|
🐜
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Mutations in a member of the Ras superfamily of small GTP-binding proteins causes Bardet-Biedl syndrome
19 auth.
Yanli Fan,
M. Esmail,
S. J. Ansley,
O. Blacque,
Keith A. Boroevich,
A. Ross,
S. Moore,
José L. Badano,
H. May-Simera,
Deanna S Compton,
...
Jane S Green,
R. Lewis,
M. Haelst,
P. Parfrey,
D. Baillie,
P. Beales,
N. Katsanis,
W. Davidson,
M. Leroux
|
8 |
2004 |
8
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BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus
35 auth.
C. Stoetzel,
V. Laurier,
E. Davis,
J. Muller,
S. Rix,
José L. Badano,
C. C. Leitch,
N. Salem,
E. Chouery,
S. Corbani,
Nadine Jalk,
S. Vicaire,
P. Sarda,
C. Hamel,
D. Lacombe,
...
M. Holder,
S. Odent,
S. Holder,
A. Brooks,
N. Elcioglu,
Eduardo D Silva,
B. Rossillion,
S. Sigaudy,
T. Ravel,
R. Lewis,
B. Leheup,
A. Verloes,
P. Amati‐Bonneau,
A. Mégarbané,
O. Poch,
D. Bonneau,
P. Beales,
J. Mandel,
N. Katsanis,
H. Dollfus
|
8 |
2006 |
8
🐜
|
|
🦁
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Dissection of epistasis in oligogenic Bardet–Biedl syndrome
10 auth.
José L. Badano,
C. C. Leitch,
S. J. Ansley,
H. May-Simera,
Shaneka Lawson,
R. Lewis,
...
P. Beales,
H. Dietz,
S. Fisher,
N. Katsanis
|
8 |
2006 |
8
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