|
๐
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Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes.
84 auth.
H. Mefford,
A. Sharp,
Carl A. Baker,
A. Itsara,
Zhaoshi Jiang,
K. Buysse,
Shuwen Huang,
V. Maloney,
J. Crolla,
D. Baralle,
A. Collins,
C. Mercer,
Koen Norga,
T. de Ravel,
K. Devriendt,
...
E. Bongers,
N. de Leeuw,
W. Reardon,
S. Gimelli,
F. Bรฉna,
R. Hennekam,
Alison M. Male,
L. Gaunt,
J. Clayton-Smith,
I. Simonic,
Soo-Mi Park,
S. Mehta,
S. Nik-Zainal,
C. Woods,
H. Firth,
G. Parkin,
M. Fichera,
S. Reitano,
M. Giudice,
Kelly Li,
I. Casuga,
A. Broomer,
B. Conrad,
M. Schwerzmann,
L. Rรคber,
S. Gallati,
P. Striano,
A. Coppola,
J. Tolmie,
E. Tobias,
C. Lilley,
L. Armengol,
Y. Spysschaert,
P. Verloo,
Anja De Coene,
L. Goossens,
G. Mortier,
F. Speleman,
E. van Binsbergen,
M. Nelen,
R. Hochstenbach,
M. Poot,
L. Gallagher,
M. Gill,
J. McClellan,
M. King,
R. Regan,
C. Skinner,
R. Stevenson,
S. Antonarakis,
Caifu Chen,
X. Estivill,
B. Menten,
G. Gimelli,
S. Gribble,
S. Schwartz,
J. Sutcliffe,
T. Walsh,
S. Knight,
J. Sebat,
C. Romano,
C. Schwartz,
J. Veltman,
B. D. de Vries,
J. Vermeesch,
J. Barber,
L. Willatt,
M. Tassabehji,
E. Eichler
|
9 |
2008 |
9
๐
|
|
๐
|
A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures
34 auth.
A. Sharp,
H. Mefford,
Kelly Li,
Carl A. Baker,
C. Skinner,
R. Stevenson,
R. Schroer,
F. Novara,
M. Gregori,
R. Ciccone,
A. Broomer,
I. Casuga,
Yu Wang,
Chunling Xiao,
Catalin C. Barbacioru,
...
G. Gimelli,
B. Bernardina,
C. Torniero,
R. Giorda,
R. Regan,
V. Murday,
S. Mansour,
M. Fichera,
L. Castiglia,
P. Failla,
M. Ventura,
Zhaoshi Jiang,
G. Cooper,
S. Knight,
C. Romano,
O. Zuffardi,
Caifu Chen,
C. Schwartz,
E. Eichler
|
9 |
2008 |
9
๐
|
|
๐
|
Abstract 4218: Validation of the Ion AmpliSeqโข Comprehensive Cancer Panel (CCP) using castPCRโข technologies.
18 auth.
Kelly Li,
Cora Woo,
Mokang Mouanoutoua,
Bonnie Moy,
Emanuel Langit,
P. Brzoska,
X. You,
S. Desai,
D. Keys,
J. Stevens,
...
Benjamin S. Kong,
M. Shannon,
Shiaw-Min Chen,
D. Ruff,
Chieh-Yuan Li,
David Joun,
I. Casuga,
Rob Bennett
|
1 |
2013 |
1
๐
|
|
๐
|
Abstract 3071: Accurate and sensitive detection of KRAS mutations in heterogeneous cancer specimens
14 auth.
Yun Bao,
David Merrill,
D. L. Corre,
Scott Sproul,
B. Ching,
I. Casuga,
L. Sapinoso,
S. Desai,
R. Petraroli,
D. Deng,
...
P. Brzoska,
H. Blons,
P. Laurent-Puig,
Caifu Chen
|
0 |
2011 |
0
๐
|
|
๐
|
Abstract 1701: Improvement of tumor mutation burden measurement by removal of deaminated bases in FFPE DNA
10 auth.
W. Tom,
R. Chaudhary,
V. Mittal,
D. Cyanam,
I. Casuga,
Elaine Wong-Ho,
...
Rob Bennett,
F. Hyland,
S. Sadis,
J. Au-Young
|
0 |
2019 |
0
๐
|
|
๐
|
Human Karyotyping Using TaqMan Copy Number Assays.
8 auth.
B. Ching,
I. Casuga,
F. Wang,
X. You,
A. Broomer,
A. Tobler,
...
C. Chen,
K. Li
|
0 |
2010 |
0
๐
|
|
๐
|
Abstract 42: High-throughput next-generation sequencing research solutions for detection of oncology variants, gene fusion events, and key oncology endpoints
35 auth.
Kayla Zochowski,
D. Cyanam,
G. Lowman,
J. Kilzer,
S. El-Difrawy,
Yan Zhu,
T. Puranik,
Alex Phan,
Derek F. Wong,
E. Kwong,
Coleen Nemes,
I. Casuga,
Frances Chan,
Eun Ji Kim,
Jianjun Guo,
...
V. Mittal,
E. Norris,
S. Sarda,
Mohit Gupta,
Fan Shen,
Steve Roman,
G. Vargas,
Ying Jin,
Annie Kraltcheva,
P. Williams,
A. Gulati,
J. Rigby,
Christopher Hoff,
R. Meade,
Elaine Wong-Ho,
Andrew Wong,
J. Ghadiri,
David Garcia-Viramontes,
S. Myrand,
S. Sadis
|
0 |
2022 |
0
๐
|
|
๐
|
Abstract 1330: Scalable single-day workflows for variant calling with the Genexus Integrated Sequencer
8 auth.
Jason Gioia,
I. Casuga,
Frances Chan,
James Commins,
D. Conners,
Marla Kratzer,
...
Collyn Seeger,
David Yaccarino
|
0 |
2020 |
0
๐
|
|
๐
|
Abstract 2939: Automation meets reliability: Use of Oncomineเฃชprecision assay on the Genexusเฃชsystem for accurate identification of cancer biomarkers in FFPE and liquid biopsy samples
12 auth.
Thilanka Jayaweera,
Nicholas Siepert,
Brian Hradecky,
E. Ostrowska,
I. Casuga,
kristy Lea,
...
P. Kshatriya,
Jian Gu,
J. Schageman,
R. Cao,
Angie Cheng,
K. Bramlett
|
0 |
2022 |
0
๐
|
|
๐ฆ
|
Abstract 2944: Rapid and accurate variant calling of FFPE samples with the Genexus System
7 auth.
I. Casuga,
Frances Chan,
Milton Huynh,
G. Govoni,
Kayla Zochowski,
Thilanka Jayaweera,
...
J. Au-Young
|
0 |
2022 |
0
๐ฆ
|
