|
🐜
|
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
🐜
|
|
🐜
|
A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures
41 auth.
V. Gennarino,
E. Palmer,
Laura M McDonell,
Li Wang,
Carolyn J. Adamski,
Amanda M Koire,
Lauren See,
Chun-An Chen,
C. Schaaf,
J. Rosenfeld,
J. Panzer,
U. Moog,
Shuang Hao,
A. Bye,
E. Kirk,
...
P. Stankiewicz,
Amy M. Breman,
A. McBride,
T. Kandula,
Holly A. Dubbs,
R. Macintosh,
M. Cardamone,
Ying Zhu,
Kevin Ying,
Kerith-Rae Dias,
M. Cho,
Lindsay B. Henderson,
B. Baskin,
Paula Morris,
Jiang Tao,
M. Cowley,
M. Dinger,
T. Roscioli,
O. Caluseriu,
O. Suchowersky,
R. Sachdev,
O. Lichtarge,
Jianrong Tang,
K. Boycott,
J. Holder,
H. Zoghbi
|
6 |
2018 |
6
🐜
|
|
🐜
|
Integrating exome sequencing into a diagnostic pathway for epileptic encephalopathy: Evidence of clinical utility and cost effectiveness
26 auth.
E. Palmer,
D. Schofield,
Rupendra T. Shrestha,
T. Kandula,
R. Macintosh,
J. Lawson,
I. Andrews,
H. Sampaio,
Alexandra M. Johnson,
M. Farrar,
M. Cardamone,
D. Mowat,
G. Elakis,
William Lo,
Ying Zhu,
...
Kevin Ying,
Paula Morris,
Jiang Tao,
Kerith-Rae Dias,
M. Buckley,
M. Dinger,
M. Cowley,
T. Roscioli,
E. Kirk,
A. Bye,
R. Sachdev
|
6 |
2018 |
6
🐜
|
|
🐜
|
Metabolomics and Multi-Omics Integration: A Survey of Computational Methods and Resources
8 auth.
T. Eicher,
G. Kinnebrew,
Andrew Patt,
Kyle Spencer,
Kevin Ying,
Qin Ma,
...
R. Machiraju,
E. Mathé
|
6 |
2020 |
6
🐜
|
|
🐜
|
Methylation-capture and Next-Generation Sequencing of free circulating DNA from human plasma
13 auth.
Kristina Warton,
V. Lin,
T. Navin,
N. Armstrong,
W. Kaplan,
Kevin Ying,
B. Gloss,
H. Mångs,
Shalima Nair,
N. Hacker,
...
R. Sutherland,
S. Clark,
G. Samimi
|
5 |
2014 |
5
🐜
|
|
🐜
|
A De Novo Mutation in the Sodium-Activated Potassium Channel KCNT2 Alters Ion Selectivity and Causes Epileptic Encephalopathy.
18 auth.
Sushmitha Gururaj,
E. Palmer,
Garrett D. Sheehan,
T. Kandula,
R. Macintosh,
Kevin Ying,
Paula Morris,
Jiang Tao,
Kerith-Rae Dias,
Ying Zhu,
...
M. Dinger,
M. Cowley,
E. Kirk,
T. Roscioli,
R. Sachdev,
M. Duffey,
A. Bye,
A. Bhattacharjee
|
5 |
2017 |
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
🐜
|
|
🐜
|
Development and validation of a targeted gene sequencing panel for application to disparate cancers
24 auth.
M. McCabe,
Marie-Emilie A. Gauthier,
Chia-Ling Chan,
Tanya J Thompson,
Sunita M C De Sousa,
C. Puttick,
J. Grady,
V. Gayevskiy,
Jiang Tao,
Kevin Ying,
...
A. Cipponi,
N. Deng,
A. Swarbrick,
Melissa L. Thomas,
R. Lord,
A. Johns,
M. Kohonen-Corish,
S. O'toole,
Jonathan R. Clark,
S. Mueller,
Ruta Gupta,
A. McCormack,
M. Dinger,
M. Cowley
|
4 |
2019 |
4
🐜
|
|
🐜
|
Methylation-capture and Next-Generation Sequencing of free circulating DNA from human plasma
13 auth.
Kristina Warton,
V. Lin,
T. Navin,
N. Armstrong,
Warren Kaplan,
Kevin Ying,
B. Gloss,
H. Mångs,
Shalima Nair,
N. Hacker,
...
Robert L Sutherland,
S. Clark,
G. Samimi
|
3 |
2014 |
3
🐜
|
