|
🐜
|
Activating germline mutations in STAT3 cause early-onset multi-organ autoimmune disease
23 auth.
S. Flanagan,
E. Haapaniemi,
M. Russell,
R. Caswell,
H. L. Allen,
E. De Franco,
T. Mcdonald,
H. Rajala,
A. Ramelius,
J. Barton,
...
K. Heiskanen,
T. Heiskanen-Kosma,
M. Kajosaari,
N. Murphy,
T. Milenković,
M. Seppänen,
Å. Lernmark,
S. Mustjoki,
T. Otonkoski,
J. Kere,
N. Morgan,
S. Ellard,
A. Hattersley
|
8 |
2014 |
8
🐜
|
|
🐜
|
Recessive mutations in a distal PTF1A enhancer cause isolated pancreatic agenesis
20 auth.
M. Weedon,
Inês Cebola,
A. Patch,
S. Flanagan,
E. De Franco,
R. Caswell,
S. Rodríguez-Seguí,
C. Shaw-Smith,
C. Cho,
H. L. Allen,
...
J. Houghton,
C. Roth,
Rongrong Chen,
K. Hussain,
P. Marsh,
L. Vallier,
A. Murray,
S. Ellard,
J. Ferrer,
A. Hattersley
|
8 |
2013 |
8
🐜
|
|
🐜
|
GATA6 haploinsufficiency causes pancreatic agenesis in humans
9 auth.
H. L. Allen,
S. Flanagan,
C. Shaw-Smith,
E. D. Franco,
I. Akerman,
R. Caswell,
...
J. Ferrer,
A. Hattersley,
S. Ellard
|
8 |
2011 |
8
🐜
|
|
🐢
|
Improved genetic testing for monogenic diabetes using targeted next-generation sequencing
11 auth.
S. Ellard,
H. L. Allen,
E. D. Franco,
S. Flanagan,
Gerald Hysenaj,
K. Colclough,
...
J. Houghton,
M. Shepherd,
A. Hattersley,
M. Weedon,
R. Caswell
|
8 |
2013 |
8
🐢
|
|
🐜
|
Exome sequencing identifies a DYNC1H1 mutation in a large pedigree with dominant axonal Charcot-Marie-Tooth disease.
11 auth.
M. Weedon,
R. Hastings,
R. Caswell,
Weijia Xie,
Konrad H. Paszkiewicz,
T. Antoniadi,
...
Maggie Williams,
C. King,
L. Greenhalgh,
R. Newbury-Ecob,
S. Ellard
|
8 |
2011 |
8
🐜
|
|
🐜
|
An in-frame deletion at the polymerase active site of POLD1 causes a multisystem disorder with lipodystrophy
22 auth.
M. Weedon,
S. Ellard,
Marc J. Prindle,
R. Caswell,
H. L. Allen,
R. Oram,
K. Godbole,
C. Yajnik,
P. Sbraccia,
G. Novelli,
...
P. Turnpenny,
E. McCann,
Kim Jee Goh,
Yukai Wang,
Jon Fulford,
L. McCulloch,
D. Savage,
S. O’Rahilly,
K. Kos,
L. Loeb,
R. Semple,
A. Hattersley
|
7 |
2013 |
7
🐜
|
|
🐢
|
A survey of virus infections of the respiratory tract of cattle and their association with disease
8 auth.
E. J. Stott,
Lewis H. Thomas,
A. P. Collins,
S. Crouch,
J. Jebbett,
G. Smith,
...
P. Luther,
R. Caswell
|
7 |
1980 |
7
🐢
|
|
🐜
|
Clinical Heterogeneity in Patients With FOXP3 Mutations Presenting With Permanent Neonatal Diabetes
12 auth.
Ó. Rubio-Cabezas,
J. Minton,
R. Caswell,
J. Shield,
D. Deiss,
Z. Šumník,
...
Amely Cayssials,
M. Herr,
A. Loew,
V. Lewis,
S. Ellard,
A. Hattersley
|
6 |
2009 |
6
🐜
|
|
🐜
|
MAFA missense mutation causes familial insulinomatosis and diabetes mellitus
26 auth.
D. Iacovazzo,
S. Flanagan,
E. Walker,
Rosana Quezado,
F. A. de Sousa Barros,
R. Caswell,
Matthew B. Johnson,
M. Wakeling,
M. Brändle,
M. Guo,
M. Dang,
P. Gabrovska,
B. Niederle,
E. Christ,
S. Jenni,
...
B. Sipos,
Maike Nieser,
A. Frilling,
K. Dhatariya,
P. Chanson,
W. D. de Herder,
B. Konukiewitz,
G. Klöppel,
R. Stein,
M. Korbonits,
S. Ellard
|
6 |
2018 |
6
🐜
|
|
🐜
|
Polycystic Kidney Disease with Hyperinsulinemic Hypoglycemia Caused by a Promoter Mutation in Phosphomannomutase 2.
46 auth.
O. R. Cabezas,
S. Flanagan,
H. Stanescu,
E. García-Martínez,
R. Caswell,
H. Lango-Allen,
M. Antón-Gamero,
J. Argente,
Anna-Marie Bussell,
A. Brandli,
C. Cheshire,
E. Crowne,
Simona Dumitriu,
R. Drynda,
J. Hamilton-Shield,
...
W. Hayes,
Alexis Hofherr,
D. Iancu,
N. Issler,
C. Jefferies,
P. Jones,
Matthew B. Johnson,
Anne Kesselheim,
E. Klootwijk,
Michael Koettgen,
W. Lewis,
José María Martos,
M. Mozere,
J. Norman,
Vaksha Patel,
A. Parrish,
C. Pérez‐Cerdá,
J. Pozo,
S. Rahman,
N. Sebire,
M. Tekman,
P. Turnpenny,
W. Hoff,
D. Viering,
M. Weedon,
Patricia D. Wilson,
L. Guay-Woodford,
R. Kleta,
K. Hussain,
S. Ellard,
D. Bockenhauer
|
6 |
2017 |
6
🐜
|
|
🐬
|
CCAAT box-dependent activation of the TATA-less human DNA polymerase alpha promoter by the human cytomegalovirus 72-kilodalton major immediate-early protein
G. Hayhurst,
L. Bryant,
R. Caswell,
S. Walker,
J. Sinclair
|
6 |
1995 |
6
🐬
|
