|
🐜
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Mutations in RAB39B cause X-linked intellectual disability and early-onset Parkinson disease with α-synuclein pathology.
33 auth.
Gabrielle R. Wilson,
Joe C H Sim,
C. Mclean,
Maila Giannandrea,
C. Galea,
J. Riseley,
S. Stephenson,
E. Fitzpatrick,
S. Haas,
K. Pope,
K. Hogan,
R. Gregg,
C. Bromhead,
D. Wargowski,
Christopher H. Lawrence,
...
P. James,
A. Churchyard,
Yujing Gao,
D. Phelan,
Greta Gillies,
Nicholas Salce,
L. Stanford,
Ashley P L Marsh,
M. L. Mignogna,
S. Hayflick,
R. Leventer,
M. Delatycki,
G. Mellick,
V. Kalscheuer,
P. D’Adamo,
M. Bahlo,
D. Amor,
P. Lockhart
|
7 |
2014 |
7
🐜
|
|
🐜
|
Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS
33 auth.
Haloom Rafehi,
D. Szmulewicz,
M. Bennett,
Nara Sobreira,
K. Pope,
Katherine R Smith,
Greta Gillies,
Peter Diakumis,
E. Dolzhenko,
Michael A. Eberle,
M. G. Barcina,
David P Breen,
Andrew M. Chancellor,
Phillip D. Cremer,
Martin B. Delatycki,
...
B. L. Fogel,
A. Hackett,
G. Halmagyi,
S. Kapetanovic,
Anthony Lang,
S. Mossman,
Weiyi Mu,
P. Patrikios,
Susan L. Perlman,
I. Rosemergy,
E. Storey,
Shaun RD Watson,
Michael A. Wilson,
David S. Zee,
D. Valle,
David J. Amor,
M. Bahlo,
Paul J Lockhart
|
7 |
2019 |
7
🐜
|
|
🐜
|
Familial cortical dysplasia caused by mutation in the mammalian target of rapamycin regulator NPRL3
20 auth.
Joe C H Sim,
T. Scerri,
Miriam Fanjul-Fernández,
J. Riseley,
Greta Gillies,
K. Pope,
Hanna van Roozendaal,
Julian I. Heng,
S. Mandelstam,
G. McGillivray,
...
D. MacGregor,
Lakshminarayanan Kannan,
W. Maixner,
A. Harvey,
D. Amor,
M. Delatycki,
P. Crino,
M. Bahlo,
P. Lockhart,
R. Leventer
|
6 |
2015 |
6
🐜
|
|
🐜
|
Mitochondrial DNA mutations in patients with postlingual, nonsyndromic hearing impairment
16 auth.
H. Jacobs,
T. Hutchin,
T. Käppi,
Greta Gillies,
Kia Minkkinen,
John W. T. Walker,
K. Thompson,
A. Rovio,
M. Carella,
S. Melchionda,
...
L. Zelante,
P. Gasparini,
I. Pyykkö,
Z. Shah,
M. Zeviani,
R. Mueller
|
6 |
2005 |
6
🐜
|
|
🐜
|
Familial cortical dysplasia type IIA caused by a germline mutation in DEPDC5
19 auth.
T. Scerri,
J. Riseley,
Greta Gillies,
K. Pope,
R. Burgess,
S. Mandelstam,
L. Dibbens,
C. Chow,
W. Maixner,
A. Harvey,
...
G. Jackson,
D. Amor,
M. Delatycki,
P. Crino,
S. Berkovic,
I. Scheffer,
M. Bahlo,
P. Lockhart,
R. Leventer
|
6 |
2015 |
6
🐜
|
|
🐜
|
An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA50/ATX-FGF14.
31 auth.
Haloom Rafehi,
Justin Read,
D. Szmulewicz,
Kayli C. Davies,
Penny Snell,
Liam G. Fearnley,
Liam Scott,
M. Thomsen,
Greta Gillies,
K. Pope,
M. Bennett,
J. Munro,
Kathie J. Ngo,
Luke Chen,
M. Wallis,
...
Ernest G. Butler,
K. Kumar,
Kathy H C Wu,
S. Tomlinson,
S. Tisch,
A. Malhotra,
Matthew Lee-Archer,
E. Dolzhenko,
M. Eberle,
Leslie J Roberts,
B. Fogel,
N. Brüggemann,
K. Lohmann,
M. Delatycki,
M. Bahlo,
P. Lockhart
|
6 |
2022 |
6
🐜
|
|
🐜
|
Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance
53 auth.
Ashley P L Marsh,
D. Heron,
Timothy J. Edwards,
Angélique Quartier,
C. Galea,
C. Nava,
Agnès Rastetter,
M. Moutard,
V. Anderson,
P. Bitoun,
J. Bunt,
A. Faudet,
C. Garel,
Greta Gillies,
Ilan Gobius,
...
J. Guégan,
S. Heide,
B. Keren,
F. Lesne,
V. Lukic,
S. Mandelstam,
G. McGillivray,
A. McIlroy,
A. Méneret,
C. Mignot,
Laura Morcom,
S. Odent,
Annalisa Paolino,
K. Pope,
F. Riant,
G. Robinson,
M. Spencer-Smith,
M. Srour,
S. Stephenson,
Rick M. Tankard,
Oriane Trouillard,
Quentin Welniarz,
A. Wood,
A. Brice,
G. Rouleau,
T. Attié-Bitach,
M. Delatycki,
J. Mandel,
D. Amor,
E. Roze,
A. Piton,
M. Bahlo,
T. Billette de Villemeur,
E. Sherr,
R. Leventer,
L. Richards,
P. Lockhart,
C. Depienne
|
6 |
2017 |
6
🐜
|
|
🐜
|
The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP
69 auth.
S. Nikkel,
A. Dauber,
S. D. de Munnik,
M. Connolly,
R. Hood,
O. Caluseriu,
J. Hurst,
U. Kini,
M. Nowaczyk,
A. Afenjar,
B. Albrecht,
J. Allanson,
P. Balestri,
T. Ben-Omran,
F. Brancati,
...
I. Cordeiro,
Bruna Santos da Cunha,
Louisa Delaney,
A. Destrėe,
D. FitzPatrick,
F. Forzano,
N. Ghali,
Greta Gillies,
K. Harwood,
Y. Hendriks,
D. Heron,
A. Hoischen,
E. Honey,
L. Hoefsloot,
J. Ibrahim,
C. Jacob,
S. Kant,
C. Kim,
E. Kirk,
N. Knoers,
D. Lacombe,
Chung Lee,
I. Lo,
L. S. Lucas,
F. Mari,
V. Mericq,
J. Moilanen,
S. Møller,
S. Moortgat,
D. Pilz,
K. Pope,
S. Price,
A. Renieri,
J. Sá,
Jeroen Schoots,
E. Silveira,
Marleen E. H. Simon,
A. Slavotinek,
I. Temple,
I. van der Burgt,
B. D. de Vries,
J. Weisfeld-Adams,
M. Whiteford,
Dagmar Wierczorek,
J. Wit,
C. Yee,
C. Beaulieu,
S. White,
D. Bulman,
E. Bongers,
H. Brunner,
M. Feingold,
K. Boycott,
FORGE Canada Consortium
|
6 |
2013 |
6
🐜
|
|
🐜
|
Hemispheric cortical dysplasia secondary to a mosaic somatic mutation in MTOR
17 auth.
R. Leventer,
T. Scerri,
Ashley P L Marsh,
K. Pope,
Greta Gillies,
W. Maixner,
D. MacGregor,
S. Harvey,
S. Harvey,
M. Delatycki,
...
D. Amor,
David J. Amor,
P. Crino,
M. Bahlo,
M. Bahlo,
P. Lockhart,
P. Lockhart
|
6 |
2015 |
6
🐜
|
|
🐜
|
Second‐hit DEPDC5 mutation is limited to dysmorphic neurons in cortical dysplasia type IIA
14 auth.
W. Lee,
S. Stephenson,
K. Howell,
K. Pope,
Greta Gillies,
A. Wray,
W. Maixner,
S. Mandelstam,
S. Berkovic,
I. Scheffer,
...
D. MacGregor,
A. Harvey,
P. Lockhart,
R. Leventer
|
5 |
2019 |
5
🐜
|
