π
|
Homozygosity mapping with SNP arrays identifies TRIM32, an E3 ubiquitin ligase, as a Bardet-Biedl syndrome gene (BBS11).
16 auth.
Annie P. Chiang,
J. Beck,
Hsan-jan Yen,
Marwan K Tayeh,
T. Scheetz,
R. Swiderski,
D. Nishimura,
T. Braun,
Kwang-Youn A. Kim,
Jian Huang,
...
K. Elbedour,
R. Carmi,
D. Slusarski,
T. Casavant,
E. Stone,
V. Sheffield
|
8 |
2006 |
8 π
|
π
|
Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome
20 auth.
K. Mykytyn,
D. Nishimura,
C. Searby,
M. Shastri,
Hsan-jan Yen,
J. Beck,
T. Braun,
L. Streb,
A. Cornier,
G. Cox,
...
A. Fulton,
R. Carmi,
G. LΓΌleci,
S. Chandrasekharappa,
F. Collins,
S. Jacobson,
J. Heckenlively,
R. Weleber,
E. Stone,
V. Sheffield
|
8 |
2002 |
8 π
|
π
|
Bardet-Biedl syndrome type 4 (BBS4)-null mice implicate Bbs4 in flagella formation but not global cilia assembly.
10 auth.
K. Mykytyn,
R. Mullins,
Michael P. Andrews,
Annie P. Chiang,
R. Swiderski,
Baoli Yang,
...
T. Braun,
T. Casavant,
E. Stone,
V. Sheffield
|
8 |
2004 |
8 π
|
π
|
An autosomal genomic screen for autism.
30 auth.
S. Barrett,
J. Beck,
R. Bernier,
E. Bisson,
T. Braun,
T. Casavant,
D. Childress,
S. Folstein,
M. Garcia,
M. Gardiner,
S. Gilman,
J. Haines,
K. Hopkins,
R. Landa,
N. Meyer,
...
J. Mullane,
D. Nishimura,
P. Palmer,
J. Piven,
J. Purdy,
S. Santangelo,
C. Searby,
V. Sheffield,
J. Singleton,
S. Slager,
Tom Struchen,
S. Svenson,
V. Vieland,
Kai Wang,
Brian Winklosky
|
8 |
1999 |
8 π
|
π
|
Missense variations in the fibulin 5 gene and age-related macular degeneration.
9 auth.
E. Stone,
T. Braun,
S. Russell,
M. Kuehn,
A. Lotery,
P. Moore,
...
C. G. Eastman,
T. Casavant,
V. Sheffield
|
8 |
2004 |
8 π
|
π
|
An autosomal genomic screen for autism. Collaborative linkage study of autism.
25 auth.
S. Barrett,
J. Beck,
R. Bernier,
E. Bisson,
T. Braun,
T. Casavant,
D. Childress,
S. Folstein,
M. Garcia,
M. Gardiner,
S. Gilman,
J. Haines,
K. Hopkins,
R. Landa,
N. Meyer,
...
J. Mullane,
D. Nishimura,
P. Palmer,
J. Piven,
J. Purdy,
S. Santangelo,
C. Searby,
V. Sheffield,
J. Singleton,
S. Slager
|
8 |
1999 |
8 π
|
π
|
Regulation of gene expression in the mammalian eye and its relevance to eye disease
12 auth.
T. Scheetz,
Kwang-Youn A. Kim,
R. Swiderski,
A. Philp,
T. Braun,
K. Knudtson,
...
A. Dorrance,
G. Dibona,
Jian Huang,
T. Casavant,
V. Sheffield,
E. Stone
|
8 |
2006 |
8 π
|
π
|
Identification of the gene that, when mutated, causes the human obesity syndrome BBS4
19 auth.
K. Mykytyn,
T. Braun,
R. Carmi,
N. Haider,
C. Searby,
M. Shastri,
G. Beck,
A. Wright,
A. Iannaccone,
K. Elbedour,
...
R. Riise,
A. Baldi,
A. RaasβRothschild,
S. Gorman,
D. Duhl,
S. Jacobson,
T. Casavant,
E. Stone,
V. Sheffield
|
8 |
2001 |
8 π
|
π
|
Comparative genomic analysis identifies an ADP-ribosylation factor-like gene as the cause of Bardet-Biedl syndrome (BBS3).
11 auth.
Annie P. Chiang,
D. Nishimura,
C. Searby,
K. Elbedour,
R. Carmi,
A. Ferguson,
...
Jenifer Secrist,
T. Braun,
T. Casavant,
E. Stone,
V. Sheffield
|
7 |
2004 |
7 π
|
π
|
Genomic Landscape and Mutational Signatures of Deafness-Associated Genes
14 auth.
H. Azaiez,
K. Booth,
S. S. Ephraim,
Bradley Crone,
E. Black-Ziegelbein,
Robert J. Marini,
A. Shearer,
C. Sloan-Heggen,
D. Kolbe,
T. Casavant,
...
M. Schnieders,
C. Nishimura,
T. Braun,
Richard J. H. Smith
|
7 |
2018 |
7 π
|
π
|
Incorporating language phenotypes strengthens evidence of linkage to autism.
13 auth.
Y. Bradford,
J. Haines,
H. Hutcheson,
M. Gardiner,
T. Braun,
V. Sheffield,
T. Cassavant,
Wen Huang,
Kai Wang,
V. Vieland,
...
S. Folstein,
S. Santangelo,
J. Piven
|
7 |
2001 |
7 π
|