|
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Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling
53 auth.
G. Rice,
Y. del Toro Duany,
E. Jenkinson,
Gabriella M. A. Forte,
Beverley H Anderson,
G. Ariaudo,
B. Bader-Meunier,
E. Baildam,
R. Battini,
M. Beresford,
Manuela Casarano,
M. Chouchane,
R. Cimaz,
A. Collins,
N.J.V. Cordeiro,
...
R. Dale,
J. Davidson,
Liesbeth De Waele,
I. Desguerre,
L. Faivre,
E. Fazzi,
B. Isidor,
L. Lagae,
A. Latchman,
P. Lebon,
Chumei Li,
J. Livingston,
Charles M Lourenço,
M. Mancardi,
A. Masurel‐Paulet,
I. McInnes,
M. Menezes,
C. Mignot,
J. O’Sullivan,
S. Orcesi,
P. Picco,
E. Riva,
R. Robinson,
D. Rodriguez,
E. Salvatici,
C. Scott,
Marta Szybowska,
J. Tolmie,
A. Vanderver,
C. Vanhulle,
J. P. Vieira,
K. Webb,
Robyn N. Whitney,
S. Williams,
L. Wolfe,
S. Zuberi,
S. Hur,
Y. Crow
|
9 |
2014 |
9
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|
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Germline mutations in SUFU cause Gorlin syndrome-associated childhood medulloblastoma and redefine the risk associated with PTCH1 mutations.
15 auth.
M. Smith,
C. Beetz,
S. Williams,
S. Bhaskar,
J. O’Sullivan,
Beverley H Anderson,
Sarah B. Daly,
J. Urquhart,
Zaynab Bholah,
D. Oudit,
...
E. Cheesman,
A. Kelsey,
M. McCabe,
W. Newman,
D. Evans
|
7 |
2014 |
7
🐜
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|
🐜
|
Personalized diagnosis and management of congenital cataract by next-generation sequencing.
14 auth.
R. Gillespie,
J. O’Sullivan,
J. Ashworth,
S. Bhaskar,
S. Williams,
S. Biswas,
E. Kehdi,
S. Ramsden,
S. Ramsden,
J. Clayton-Smith,
...
J. Clayton-Smith,
G. Black,
G. Black,
I. C. Lloyd
|
7 |
2014 |
7
🐜
|
|
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Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease
18 auth.
J. Ellingford,
S. Barton,
S. Bhaskar,
S. Williams,
P. Sergouniotis,
J. O’Sullivan,
J. Lamb,
R. Perveen,
G. Hall,
W. Newman,
...
P. Bishop,
S. Roberts,
R. Leach,
R. Tearle,
S. Bayliss,
S. Ramsden,
A. Nemeth,
G. Black
|
7 |
2016 |
7
🐜
|
|
🐜
|
Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts
66 auth.
E. Jenkinson,
M. Rodero,
P. Kasher,
C. Uggenti,
A. Oojageer,
Laurence Goosey,
Yoann Rose,
Christopher J. Kershaw,
J. Urquhart,
S. Williams,
S. Bhaskar,
J. O’Sullivan,
G. Baerlocher,
M. Haubitz,
G. Aubert,
...
K. Barañano,
A. Barnicoat,
R. Battini,
A. Berger,
E. Blair,
Janice E. Brunstrom-Hernandez,
Johannes A Buckard,
D. Cassiman,
R. Caumes,
D. Cordelli,
Liesbeth De Waele,
A. Fay,
P. Ferreira,
N. Fletcher,
A. Fryer,
H. Goel,
C. Hemingway,
M. Henneke,
I. Hughes,
R. Jefferson,
Ram Kumar,
L. Lagae,
P. Landrieu,
Charles M Lourenço,
T. Malpas,
S. Mehta,
I. Metz,
S. Naidu,
K. Õunap,
A. Panzer,
P. Prabhakar,
G. Quaghebeur,
R. Schiffmann,
E. Sherr,
Kanaga R Sinnathuray,
C. Soh,
H. Stewart,
J. Stone,
H. Van Esch,
C. van Mol,
A. Vanderver,
E. Wakeling,
A. Whitney,
G. Pavitt,
S. Griffiths-Jones,
G. Rice,
P. Revy,
M. S. van der Knaap,
J. Livingston,
R. O’Keefe,
Y. Crow
|
6 |
2016 |
6
🐜
|
|
🐜
|
Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6
31 auth.
I. Ratbi,
K. Falkenberg,
M. Sommen,
Nada Al-sheqaih,
Soukaina Guaoua,
G. Vandeweyer,
J. Urquhart,
K. Chandler,
S. Williams,
N. Roberts,
M. El Alloussi,
G. Black,
S. Ferdinandusse,
Hind Ramdi,
A. Heimler,
...
A. Fryer,
S. Lynch,
N. Cooper,
K. Ong,
Claire E L Smith,
C. Inglehearn,
A. Mighell,
C. Elcock,
J. Poulter,
M. Tischkowitz,
S. Davies,
A. Sefiani,
Aleksandr Mironov,
W. Newman,
H. Waterham,
G. Van Camp
|
6 |
2015 |
6
🐜
|
|
🐜
|
Mutations in LZTR1 add to the complex heterogeneity of schwannomatosis
20 auth.
M. Smith,
B. Isidor,
C. Beetz,
S. Williams,
S. Bhaskar,
W. Richer,
J. O’Sullivan,
B. Anderson,
Sarah B. Daly,
J. Urquhart,
...
A. Fryer,
C. Rustad,
S. Mills,
A. Samii,
D. du Plessis,
D. Halliday,
S. Barbarot,
F. Bourdeaut,
W. Newman,
D. Evans
|
6 |
2015 |
6
🐜
|
|
🐜
|
ORAI1 Mutations with Distinct Channel Gating Defects in Tubular Aggregate Myopathy
23 auth.
J. Böhm,
M. Bulla,
J. Urquhart,
E. Malfatti,
S. Williams,
J. O’Sullivan,
Anastazja Szlauer,
C. Koch,
G. Baranello,
M. Mora,
...
Michela Ripolone,
R. Violano,
M. Moggio,
H. Kingston,
T. Dawson,
C. Degoede,
J. Nixon,
A. Boland,
J. Deleuze,
N. Romero,
W. Newman,
N. Demaurex,
J. Laporte
|
6 |
2017 |
6
🐜
|
|
🐜
|
Expanding the genotypic spectrum of Perrault syndrome
18 auth.
L. A. Demain,
J. Urquhart,
J. O’Sullivan,
S. Williams,
S. Bhaskar,
E. Jenkinson,
C. Lourenço,
A. Heiberg,
Scott Pearce,
S. Shalev,
...
W. Yue,
S. Mackinnon,
K. Munro,
R. Newbury-Ecob,
K. Becker,
M. J. Kim,
R. T. O' Keefe,
W. G. Newman
|
6 |
2017 |
6
🐜
|
|
🐜
|
Compound heterozygosity of low-frequency promoter deletions and rare loss-of-function mutations in TXNL4A causes Burn-McKeown syndrome.
42 auth.
D. Wieczorek,
W. Newman,
T. Wieland,
Tea Berulava,
Maria Kaffe,
D. Falkenstein,
C. Beetz,
E. Graf,
T. Schwarzmayr,
S. Douzgou,
J. Clayton-Smith,
Sarah B. Daly,
S. Williams,
S. Bhaskar,
J. Urquhart,
...
Beverley H Anderson,
J. O’Sullivan,
O. Boute,
Jasmin Gundlach,
J. Czeschik,
A. V. van Essen,
F. Hazan,
Sarah S. Park,
A. Hing,
A. Kuechler,
D. Lohmann,
K. Ludwig,
E. Mangold,
L. Steenpass,
M. Zeschnigk,
J. Lemke,
C. Lourenço,
U. Hehr,
E. Prott,
M. Waldenberger,
A. Böhmer,
B. Horsthemke,
R. O’Keefe,
T. Meitinger,
J. Burn,
H. Lüdecke,
T. Strom
|
5 |
2014 |
5
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|
