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The Vertebrate Primary Cilium in Development, Homeostasis, and Disease
J. Gerdes,
E. Davis,
N. Katsanis
|
9 |
2009 |
9
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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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🦁
|
TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum
47 auth.
E. Davis,
Qi Zhang,
Qin Liu,
B. Diplas,
Lisa M. Davey,
J. Hartley,
C. Stoetzel,
K. Szymanska,
Gokul Ramaswami,
C. Logan,
D. Muzny,
Alice C. Young,
D. Wheeler,
P. Cruz,
M. Morgan,
...
L. Lewis,
P. Cherukuri,
Baishali Maskeri,
Nancy F. Hansen,
J. Mullikin,
R. Blakesley,
G. Bouffard,
G. Gyapay,
Susanne Reiger,
B. Tönshoff,
Ilse Kern,
Neveen A. Soliman,
T. Neuhaus,
K. Swoboda,
H. Kayserili,
Tomas E. Gallagher,
R. Lewis,
C. Bergmann,
E. Otto,
S. Saunier,
P. Scambler,
P. Beales,
J. Gleeson,
E. Maher,
T. Attié-Bitach,
H. Dollfus,
Colin A. Johnson,
E. Green,
R. Gibbs,
F. Hildebrandt,
E. Pierce,
N. Katsanis
|
8 |
2011 |
8
🦁
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|
🐜
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CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs
44 auth.
A. Merveille,
E. Davis,
A. Becker-Heck,
M. Legendre,
I. Amirav,
G. Bataille,
J. Belmont,
N. Beydon,
F. Billen,
A. Clément,
C. Clercx,
A. Coste,
R. Crosbie,
J. Blic,
Stephane Deleuze,
...
P. Duquesnoy,
D. Escalier,
E. Escudier,
M. Fliegauf,
J. Horváth,
K. Hill,
M. Jorissen,
Jocelyne Just,
A. Kispert,
M. Lathrop,
N. Loges,
J. Marthin,
Y. Momozawa,
G. Montantin,
K. Nielsen,
H. Olbrich,
J. Papon,
I. Rayet,
G. Roger,
M. Schmidts,
Henrique Tenreiro,
J. Towbin,
D. Zélénika,
H. Zentgraf,
M. Georges,
A. Lequarré,
N. Katsanis,
H. Omran,
S. Amselem
|
8 |
2011 |
8
🐜
|
|
🐬
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The ciliary proteome database: an integrated community resource for the genetic and functional dissection of cilia
A. Gherman,
E. Davis,
N. Katsanis
|
8 |
2006 |
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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A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies
34 auth.
H. Khanna,
E. Davis,
C. Murga-Zamalloa,
A. Estrada,
I. Lopez,
A. D. den Hollander,
Marijke N. Zonneveld,
M. Othman,
N. Waseem,
C. Chakarova,
C. Maubaret,
A. Díaz-Font,
I. MacDonald,
D. Muzny,
D. Wheeler,
...
M. Morgan,
L. Lewis,
C. Logan,
P. L. Tan,
Michael A. Beer,
C. Inglehearn,
R. Lewis,
S. Jacobson,
C. Bergmann,
P. Beales,
T. Attié-Bitach,
Colin A. Johnson,
E. Otto,
S. Bhattacharya,
F. Hildebrandt,
R. Gibbs,
R. Koenekoop,
A. Swaroop,
N. Katsanis
|
8 |
2009 |
8
🐜
|
|
🐜
|
Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes
51 auth.
E. Valente,
C. Logan,
S. Mougou-Zerelli,
J. H. Lee,
J. Silhavy,
F. Brancati,
M. Iannicelli,
L. Travaglini,
S. Romani,
B. Illi,
M. Adams,
K. Szymanska,
A. Mazzotta,
J. Lee,
Jerlyn Tolentino,
...
Dominika Swistun,
C. Salpietro,
C. Fede,
S. Gabriel,
C. Russ,
K. Cibulskis,
C. Sougnez,
F. Hildebrandt,
E. Otto,
Susanne Held,
B. Diplas,
E. Davis,
M. Mikula,
C. Strom,
Bruria Ben-Ze’ev,
D. Lev,
T. Sagie,
M. Michelson,
Y. Yaron,
A. Krause,
E. Boltshauser,
Nadia Elkhartoufi,
J. Roume,
S. Shalev,
A. Munnich,
S. Saunier,
C. Inglehearn,
A. Saâd,
A. Alkindy,
Sophie Thomas,
M. Vekemans,
B. Dallapiccola,
N. Katsanis,
Colin A. Johnson,
T. Attié-Bitach,
J. Gleeson
|
8 |
2010 |
8
🐜
|
|
🐜
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Identification of a novel BBS gene (BBS12) highlights the major role of a vertebrate-specific branch of chaperonin-related proteins in Bardet-Biedl syndrome.
22 auth.
C. Stoetzel,
J. Muller,
V. Laurier,
E. Davis,
N. Zaghloul,
S. Vicaire,
C. Jacquelin,
F. Plewniak,
C. C. Leitch,
P. Sarda,
...
C. Hamel,
T. de Ravel,
R. Lewis,
E. Friederich,
C. Thibault,
J. Danse,
A. Verloes,
D. Bonneau,
N. Katsanis,
O. Poch,
J. Mandel,
H. Dollfus
|
8 |
2007 |
8
🐜
|
|
🐜
|
CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290.
35 auth.
N. Gorden,
H. Arts,
M. Parisi,
K. Coene,
S. Letteboer,
S. V. van Beersum,
D. Mans,
A. Hikida,
M. Eckert,
D. Knutzen,
A. Alswaid,
H. Ozyurek,
Selin Dibooğlu,
E. Otto,
Yangfan P. Liu,
...
E. Davis,
C. Hutter,
T. Bammler,
F. Farin,
M. Dorschner,
M. Topçu,
E. Zackai,
P. Rosenthal,
K. Owens,
N. Katsanis,
J. Vincent,
F. Hildebrandt,
E. Rubel,
D. Raible,
N. Knoers,
P. Chance,
R. Roepman,
C. Moens,
I. Glass,
D. Doherty
|
7 |
2008 |
7
🐜
|
|
🐜
|
KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes
39 auth.
A. Putoux,
Sophie Thomas,
K. Coene,
E. Davis,
Y. Alanay,
G. Oǧur,
E. Uz,
Daniela Buzas,
C. Gomes,
S. Patrier,
C. L. Bennett,
Nadia Elkhartoufi,
M. Frison,
L. Rigonnot,
N. Joyē,
...
Solenn Pruvost,
G. Utine,
K. Boduroğlu,
P. Nitschké,
L. Fertitta,
C. Thauvin-Robinet,
A. Munnich,
V. Cormier-Daire,
R. Hennekam,
E. Colin,
N. Akarsu,
C. Bôle-Feysot,
N. Cagnard,
A. Schmitt,
Nicolas Goudin,
S. Lyonnet,
F. Encha-Razavi,
J. Siffroi,
M. Winey,
N. Katsanis,
M. Gonzalès,
M. Vekemans,
P. Beales,
T. Attié-Bitach
|
7 |
2011 |
7
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|
