|
🐜
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De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly
15 auth.
Jeong Ho Lee,
M. Huynh,
J. Silhavy,
Sangwoo Kim,
Tracy Dixon-Salazar,
A. Heiberg,
Eric Scott,
V. Bafna,
K. J. Hill,
Adrienne Collazo,
...
V. Funari,
C. Russ,
S. Gabriel,
G. Mathern,
J. Gleeson
|
9 |
2012 |
9
🐜
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Exome Sequencing Links Corticospinal Motor Neuron Disease to Common Neurodegenerative Disorders
52 auth.
G. Novarino,
A. Fenstermaker,
M. Zaki,
Matan Hofree,
J. Silhavy,
A. Heiberg,
Mostafa Abdellateef,
Başak Rosti,
Eric Scott,
L. Mansour,
A. Masri,
H. Kayserili,
J. Al-Aama,
G. Abdel-Salam,
Ariana Karminejad,
...
Majdi Kara,
B. Kara,
Bita Bozorgmehri,
T. Ben-Omran,
F. Mojahedi,
I. Mahmoud,
N. Bouslam,
A. Bouhouche,
A. Benomar,
S. Hanein,
L. Raymond,
S. Forlani,
M. Mascaro,
L. Selim,
N. Shehata,
N. Al-Allawi,
P. S. Bindu,
M. Azam,
M. Gunel,
A. Çağlayan,
K. Bilguvar,
A. Tolun,
M. Issa,
J. Schroth,
E. Spencer,
R. O. Rosti,
N. Akizu,
K. Vaux,
Anide Johansen,
Alice A. Koh,
H. Megahed,
A. Durr,
A. Brice,
G. Stevanin,
S. Gabriel,
T. Ideker,
J. Gleeson
|
8 |
2014 |
8
🐜
|
|
🐜
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Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome
18 auth.
E. Valente,
J. Silhavy,
F. Brancati,
Giuseppe Barrano,
S. Krishnaswami,
M. Castori,
Madeline A. Lancaster,
E. Boltshauser,
L. Boccone,
L. Al-Gazali,
...
E. Fazzi,
S. Signorini,
Carrie M. Louie,
E. Bellacchio,
International Joubert Syndrome Related Disorders Study Group,
E. Bertini,
B. Dallapiccola,
J. Gleeson
|
8 |
2006 |
8
🐜
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|
🐜
|
Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome.
25 auth.
Vincent Cantagrel,
J. Silhavy,
S. Bielas,
Dominika Swistun,
S. E. Marsh,
Julien Y Bertrand,
S. Audollent,
T. Attié-Bitach,
Kenton R. Holden,
W. Dobyns,
D. Traver,
L. Al-Gazali,
Bassam R. Ali,
Tom H Lindner,
T. Caspary,
...
E. Otto,
F. Hildebrandt,
Ian A. Glass,
C. Logan,
Colin A. Johnson,
C. Bennett,
F. Brancati,
E. M. Valente,
C. Woods,
Joseph G Gleeson
|
8 |
2008 |
8
🐜
|
|
🐜
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Mutations in BCKD-kinase Lead to a Potentially Treatable Form of Autism with Epilepsy
22 auth.
G. Novarino,
Paul El-Fishawy,
H. Kayserili,
N. Meguid,
Eric M. Scott,
J. Schroth,
J. Silhavy,
Majdi Kara,
R. Khalil,
T. Ben-Omran,
...
A. Ercan-Sencicek,
A. Hashish,
Stephan J Sanders,
Abha R. Gupta,
Hebatalla S Hashem,
D. Matern,
S. Gabriel,
L. Sweetman,
Y. Rahimi,
Robert A. Harris,
M. State,
J. Gleeson
|
8 |
2012 |
8
🐜
|
|
🐜
|
Mutations in the AHI1 gene, encoding jouberin, cause Joubert syndrome with cortical polymicrogyria.
11 auth.
Tracy Dixon-Salazar,
J. Silhavy,
S. E. Marsh,
Carrie M. Louie,
L. Scott,
A. Gururaj,
...
L. Al-Gazali,
A. Al-Tawari,
H. Kayserili,
L. Sztriha,
J. Gleeson
|
8 |
2004 |
8
🐜
|
|
🐜
|
Exome Sequencing Can Improve Diagnosis and Alter Patient Management
29 auth.
Tracy Dixon-Salazar,
J. Silhavy,
Nitin Udpa,
J. Schroth,
S. Bielas,
A. Schaffer,
Jesus Olvera,
V. Bafna,
M. Zaki,
G. Abdel-Salam,
L. Mansour,
L. Selim,
Sawsan Abdel-Hadi,
N. Marzouki,
T. Ben-Omran,
...
Nouriya A Al-Saana,
F. M. Sonmez,
F. Celep,
M. Azam,
K. J. Hill,
Adrienne Collazo,
A. Fenstermaker,
G. Novarino,
N. Akizu,
K. Garimella,
C. Sougnez,
C. Russ,
S. Gabriel,
J. Gleeson
|
8 |
2012 |
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
🐜
|
|
🐜
|
SRD5A3 Is Required for Converting Polyprenol to Dolichol and Is Mutated in a Congenital Glycosylation Disorder
25 auth.
Vincent Cantagrel,
D. Lefeber,
B. Ng,
Z. Guan,
J. Silhavy,
S. Bielas,
L. Lehle,
H. Hombauer,
M. Adamowicz,
E. Swiezewska,
A. Brouwer,
P. Blümel,
J. Sykut-Cegielska,
S. Houliston,
Dominika Swistun,
...
B. Ali,
W. Dobyns,
D. Babovic‐Vuksanovic,
H. Bokhoven,
R. Wevers,
C. Raetz,
H. Freeze,
E. Morava,
L. Al-Gazali,
J. Gleeson
|
8 |
2010 |
8
🐜
|
|
🐜
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Mutations in the inositol polyphosphate-5-phosphatase E gene link phosphatidyl inositol signaling to the ciliopathies
25 auth.
S. Bielas,
J. Silhavy,
F. Brancati,
Marina V. Kisseleva,
L. Al-Gazali,
L. Sztriha,
R. Bayoumi,
M. Zaki,
Alice Abdel-Aleem,
O. Rosti,
H. Kayserili,
Dominika Swistun,
L. Scott,
E. Bertini,
E. Boltshauser,
...
E. Fazzi,
L. Travaglini,
S. Field,
S. Gayral,
M. Jacoby,
S. Schurmans,
B. Dallapiccola,
P. Majerus,
E. Valente,
J. Gleeson
|
8 |
2009 |
8
🐜
|
|
🐜
|
CLP1 Founder Mutation Links tRNA Splicing and Maturation to Cerebellar Development and Neurodegeneration
33 auth.
A. Schaffer,
V. Eggens,
A. Çağlayan,
M. Reuter,
Eric Scott,
N. Coufal,
J. Silhavy,
Yuanchao Xue,
H. Kayserili,
Katsuhito Yasuno,
R. O. Rosti,
Mostafa Abdellateef,
C. Çağlar,
P. Kasher,
J. L. Cazemier,
...
M. Weterman,
Vincent Cantagrel,
Na Cai,
C. Zweier,
U. Altunoğlu,
N. B. Satkın,
F. Aktar,
B. Tuysuz,
C. Yalçınkaya,
H. Çaksen,
K. Bilguvar,
Xiang-Dong Fu,
C. Trotta,
S. Gabriel,
A. Reis,
M. Gunel,
F. Baas,
J. Gleeson
|
7 |
2014 |
7
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|
