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🐬
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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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🐜
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Comparative Genomics Identifies a Flagellar and Basal Body Proteome that Includes the BBS5 Human Disease Gene
21 auth.
Jin Billy Li,
J. Gerdes,
Courtney J. Haycraft,
Yanli Fan,
Tanya M. Teslovich,
H. May-Simera,
Haitao Li,
O. Blacque,
Linya Li,
C. C. Leitch,
...
R. Lewis,
Jane S Green,
P. Parfrey,
M. Leroux,
W. Davidson,
P. Beales,
L. Guay-Woodford,
B. Yoder,
G. Stormo,
N. Katsanis,
S. Dutcher
|
9 |
2004 |
9
🐜
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🐜
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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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|
🐜
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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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🐢
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Ciliopathies: an expanding disease spectrum
A. Waters,
P. Beales
|
9 |
2011 |
9
🐢
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🐜
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Common genetic variation drives molecular heterogeneity in human iPSCs
43 auth.
H. Kilpinen,
Ângela Gonçalves,
Andreas Leha,
Vackar Afzal,
Kaur Alasoo,
Sofie Ashford,
Sendu Bala,
D. Bensaddek,
F. P. Casale,
Oliver J. Culley,
P. Danecek,
Adam Faulconbridge,
Peter W. Harrison,
A. Kathuria,
Davis J. McCarthy,
...
Shane A. McCarthy,
Ruta Meleckyte,
Y. Memari,
N. Moens,
Filipa A. C. Soares,
Alice L. Mann,
Ian Streeter,
Chukwuma A. Agu,
A. Alderton,
Rachel Nelson,
S. Harper,
Minal J. Patel,
Alistair White,
Sharad R. Patel,
Laura Clarke,
Reena Halai,
C. Kirton,
Anja Kolb-Kokocinski,
P. Beales,
E. Birney,
D. Danovi,
A. Lamond,
W. Ouwehand,
L. Vallier,
F. Watt,
R. Durbin,
O. Stegle,
Daniel J. Gaffney
|
8 |
2017 |
8
🐜
|
|
🐜
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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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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
🐢
|
|
🐜
|
Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin
33 auth.
E. Otto,
B. Loeys,
H. Khanna,
J. Hellemans,
R. Sudbrak,
Shuling Fan,
Ulla Muerb,
John F. O'Toole,
Juliana Helou,
M. Attanasio,
B. Utsch,
J. Sayer,
C. Lillo,
D. Jimeno,
P. Coucke,
...
A. Paepe,
R. Reinhardt,
S. Klages,
M. Tsuda,
I. Kawakami,
T. Kusakabe,
H. Omran,
A. Imm,
Melissa Tippens,
P. Raymond,
Josephine Hill,
P. Beales,
Shirley He,
A. Kispert,
B. Margolis,
David S. Williams,
A. Swaroop,
F. Hildebrandt
|
8 |
2005 |
8
🐜
|
|
🐜
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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
🐜
|
|
🐢
|
Bardet–Biedl syndrome
E. Forsythe,
P. Beales
|
8 |
2012 |
8
🐢
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