|
🐜
|
Whole-exome sequencing reanalysis at 12 months boosts diagnosis and is cost-effective when applied early in Mendelian disorders
23 auth.
Lisa J Ewans,
D. Schofield,
Rupendra T. Shrestha,
Ying Zhu,
V. Gayevskiy,
Kevin Ying,
Corrina Walsh,
Eric Lee,
E. Kirk,
A. Colley,
...
C. Ellaway,
A. Turner,
D. Mowat,
L. Worgan,
M. Freckmann,
M. Lipke,
R. Sachdev,
David Miller,
M. Field,
M. Dinger,
M. Buckley,
M. Cowley,
T. Roscioli
|
7 |
2018 |
7
🐜
|
|
🐜
|
Asparagine Synthetase Deficiency causes reduced proliferation of cells under conditions of limited asparagine.
18 auth.
E. Palmer,
Jaclyn N. Hayner,
R. Sachdev,
M. Cardamone,
T. Kandula,
Paula Morris,
Kerith-Rae Dias,
Jiang Tao,
David Miller,
Ying Zhu,
...
R. Macintosh,
M. Dinger,
M. Cowley,
M. Buckley,
T. Roscioli,
A. Bye,
M. Kilberg,
E. Kirk
|
5 |
2015 |
5
🐜
|
|
🐜
|
Pathogenic variants in PLOD3 result in a Stickler syndrome-like connective tissue disorder with vascular complications
20 auth.
Lisa J Ewans,
A. Colley,
C. Gaston-Massuet,
A. Gualtieri,
M. Cowley,
M. McCabe,
D. Anand,
S. Lachke,
L. Scietti,
F. Forneris,
...
Ying Zhu,
Kevin Ying,
Corrina Walsh,
E. Kirk,
David Miller,
C. Giunta,
D. Sillence,
M. Dinger,
M. Buckley,
T. Roscioli
|
4 |
2019 |
4
🐜
|
