|
🐜
|
A Copy Number Variation Morbidity Map of Developmental Delay
26 auth.
G. Cooper,
Bradley P. Coe,
S. Girirajan,
J. Rosenfeld,
Tiffany H. Vu,
Carl A. Baker,
C. Williams,
H. Stalker,
R. Hamid,
V. Hannig,
H. Abdel-Hamid,
P. Bader,
Elizabeth McCracken,
D. Niyazov,
K. Leppig,
...
Heidi A. Thiese,
M. Hummel,
Nora Alexander,
J. Gorski,
J. Kussmann,
V. Shashi,
Krys Johnson,
C. Rehder,
B. Ballif,
L. Shaffer,
E. Eichler
|
10 |
2011 |
10
🐜
|
|
🐜
|
Mutations in FOXC2 (MFH-1), a forkhead family transcription factor, are responsible for the hereditary lymphedema-distichiasis syndrome.
8 auth.
Ji Fang,
S. Dagenais,
R. Erickson,
Martin F. Arlt,
M. W. Glynn,
J. Gorski,
...
L. Seaver,
T. Glover
|
9 |
2000 |
9
🐜
|
|
🐜
|
A recurrent 16p12.1 microdeletion suggests a two-hit model for severe developmental delay
59 auth.
S. Girirajan,
J. Rosenfeld,
G. Cooper,
F. Antonacci,
P. Siswara,
A. Itsara,
Laura Vives,
T. Walsh,
S. McCarthy,
Carl A. Baker,
H. Mefford,
J. Kidd,
S. Browning,
B. Browning,
D. Dickel,
...
D. Levy,
B. Ballif,
Kathryn Platky,
D. Farber,
G. Gowans,
J. J. Wetherbee,
A. Asamoah,
D. Weaver,
P. Mark,
Jennifer Dickerson,
B. Garg,
S. Ellingwood,
Rosemarie Smith,
V. Banks,
Wendy E Smith,
M. McDonald,
J. Hoo,
B. French,
Cindy Hudson,
John P. Johnson,
J. Ozmore,
J. Moeschler,
U. Surti,
Luis Fernando González Escobar,
Dima El-Kechen,
J. Gorski,
Jennifer Kussman,
B. Salbert,
Y. Lacassie,
Alisha Biser,
D. McDonald-McGinn,
E. Zackai,
M. Deardorff,
T. Shaikh,
E. Haan,
K. Friend,
M. Fichera,
C. Romano,
J. Gécz,
L. DeLisi,
J. Sebat,
M. King,
L. Shaffer,
E. Eichler
|
9 |
2010 |
9
🐜
|
|
🐜
|
Cloning of the breakpoint of an X;21 translocation associated with Duchenne muscular dystrophy
10 auth.
P. Ray,
B. Belfall,
C. Duff,
C. Logan,
V. Kean,
M. Thompson,
...
J. Sylvester,
J. Gorski,
R. Schmickel,
R. Worton
|
8 |
1985 |
8
🐜
|
|
🐢
|
Isolation and characterization of the faciogenital dysplasia (Aarskog-Scott syndrome) gene: A putative
Rho
Rac
guanine nucleotide exchange factor
9 auth.
N. Pasteris,
Amy B. Cadle,
L. Logie,
M. Porteous,
C. Schwartz,
R. Stevenson,
...
T. Glover,
R. Wilroy,
J. Gorski
|
8 |
1994 |
8
🐢
|
|
🐜
|
Variation among human 28S ribosomal RNA genes.
7 auth.
I. L. Gonzalez,
J. Gorski,
T. Campen,
D. Dorney,
J. Erickson,
J. Sylvester,
...
R. Schmickel
|
8 |
1985 |
8
🐜
|
|
🐬
|
Faciogenital dysplasia protein (FGD1) and Vav, two related proteins required for normal embryonic development, are upstream regulators of Rho GTPases
M. Olson,
N. Pasteris,
J. Gorski,
A. Hall
|
7 |
1996 |
7
🐬
|
|
🐜
|
Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome.
23 auth.
F. Bernier,
O. Caluseriu,
Sarah B. H. Ng,
J. Schwartzentruber,
K. Buckingham,
A. Innes,
E. Jabs,
J. Innis,
J. Schuette,
J. Gorski,
...
P. Byers,
G. Andelfinger,
V. Siu,
J. Lauzon,
B. Fernandez,
M. McMillin,
R. Scott,
Hilary Racher,
J. Majewski,
D. Nickerson,
J. Shendure,
M. Bamshad,
J. Parboosingh
|
7 |
2012 |
7
🐜
|
|
🐜
|
The Faciogenital Dysplasia Gene Product FGD1 Functions as a Cdc42Hs-specific Guanine-Nucleotide Exchange Factor*
7 auth.
Y. Zheng,
D. J. Fischer,
M. Santos,
G. Tigyi,
N. Pasteris,
J. Gorski,
...
Yuhong Xu
|
7 |
1996 |
7
🐜
|
|
🐜
|
Sequence and structure correlation of human ribosomal transcribed spacers.
8 auth.
I. L. Gonzalez,
I. L. Gonzalez,
C. Chambers,
J. Gorski,
D. Stambolian,
R. Schmickel,
...
J. Sylvester,
J. Sylvester
|
6 |
1990 |
6
🐜
|
|
🐢
|
Fgd1, the Cdc42 GEF responsible for Faciogenital Dysplasia, directly interacts with cortactin and mAbp1 to modulate cell shape.
P. Hou,
Lourdes Estrada,
Andrew W. Kinley,
J. Parsons,
A. Vojtek,
J. Gorski
|
6 |
2003 |
6
🐢
|
|
🐬
|
A gene involved in XY sex reversal is located on chromosome 9, distal to marker D9S1779.
W. Flejter,
Jennifer Fergestad,
J. Gorski,
Tena Varvill,
S. Chandrasekharappa
|
6 |
1998 |
6
🐬
|
