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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
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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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Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible
47 auth.
Bernward Hinkes,
R. Wiggins,
R. Gbadegesin,
C. Vlangos,
D. Seelow,
G. Nürnberg,
P. Garg,
R. Verma,
H. Chaib,
B. Hoskins,
S. Ashraf,
C. Becker,
H. Hennies,
M. Goyal,
B. Wharram,
...
A. Schachter,
S. Mudumana,
I. Drummond,
D. Kerjaschki,
R. Waldherr,
A. Dietrich,
F. Ozaltın,
A. Bakkaloğlu,
R. Cleper,
L. Basel‐Vanagaite,
M. Pohl,
M. Griebel,
A. Tsygin,
A. Soylu,
D. Müller,
Caroline Sorli,
T. D. Bunney,
M. Katan,
Jinhong Liu,
M. Attanasio,
John F. O'Toole,
K. Hasselbacher,
Bettina E. Mucha,
E. Otto,
R. Airik,
A. Kispert,
G. Kelley,
A. Smrcka,
T. Gudermann,
L. Holzman,
P. Nürnberg,
F. Hildebrandt
|
9 |
2006 |
9
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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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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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Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome.
12 auth.
P. Beales,
José L. Badano,
A. Ross,
S. J. Ansley,
B. Hoskins,
Brigitta Kirsten,
...
C. Mein,
P. Froguel,
P. Scambler,
R. Lewis,
J. Lupski,
N. Katsanis
|
7 |
2003 |
7
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Heterozygous mutations in BBS1, BBS2 and BBS6 have a potential epistatic effect on Bardet-Biedl patients with two mutations at a second BBS locus.
10 auth.
José L. Badano,
Jun Chul Kim,
B. Hoskins,
R. Lewis,
S. J. Ansley,
D. Cutler,
...
C. Castellan,
P. Beales,
M. Leroux,
N. Katsanis
|
7 |
2003 |
7
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Recessive missense mutations in LAMB2 expand the clinical spectrum of LAMB2-associated disorders.
21 auth.
Katrin Hasselbacher,
Katrin Hasselbacher,
Roger C. Wiggins,
Verena Matejas,
Bernward Hinkes,
Bettina E. Mucha,
B. Hoskins,
F. Ozaltın,
F. Ozaltın,
G. Nürnberg,
...
Christian Becker,
D. Hangan,
Martin Pohl,
E. Kuwertz-Bröking,
M. Griebel,
Valérie Schumacher,
Brigitte Royer-Pokora,
Ayşin Bakkaloglu,
P. Nürnberg,
Martin Zenker,
F. Hildebrandt
|
7 |
2006 |
7
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|
🦁
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Transcription factor SIX5 is mutated in patients with branchio-oto-renal syndrome.
13 auth.
B. Hoskins,
Carl H. Cramer,
Derek Silvius,
Dan Zou,
R. M. Raymond,
D. Orten,
W. Kimberling,
Richard J. H. Smith,
D. Weil,
C. Petit,
...
E. Otto,
P. Xu,
F. Hildebrandt
|
7 |
2007 |
7
🦁
|
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A Systematic Approach to Mapping Recessive Disease Genes in Individuals from Outbred Populations
28 auth.
F. Hildebrandt,
S. Heeringa,
F. Rüschendorf,
M. Attanasio,
G. Nürnberg,
C. Becker,
D. Seelow,
N. Huebner,
G. Chernin,
C. Vlangos,
Weibin Zhou,
John F. O'Toole,
B. Hoskins,
M. T. Wolf,
Bernward Hinkes,
...
H. Chaib,
S. Ashraf,
D. Schoeb,
Bugsu Ovunc,
Susan J Allen,
V. Vega-Warner,
Eric L. Wise,
Heather M. Harville,
R. Lyons,
J. Washburn,
J. MacDonald,
P. Nürnberg,
E. Otto
|
7 |
2009 |
7
🐜
|
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Mutations in PLCE1 are a major cause of isolated diffuse mesangial sclerosis (IDMS).
16 auth.
R. Gbadegesin,
Bernward Hinkes,
B. Hoskins,
C. Vlangos,
S. Heeringa,
Jinhong Liu,
C. Loirat,
F. Ozaltın,
S. Hashmi,
Francis Ulmer,
...
R. Cleper,
R. Ettenger,
C. Antignac,
R. Wiggins,
M. Zenker,
F. Hildebrandt
|
7 |
2007 |
7
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