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Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy
8 auth.
K. Helbig,
K. D. Farwell Hagman,
D. Shinde,
C. Mroske,
Z. Powis,
Shuwei Li,
...
Sha Tang,
I. Helbig
|
8 |
2016 |
8
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Taq DNA polymerase slippage mutation rates measured by PCR and quasi-likelihood analysis: (CA/GT)n and (A/T)n microsatellites.
D. Shinde,
Yinglei Lai,
Fengzhu Sun,
N. Arnheim
|
8 |
2003 |
8
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Sequence dependence of isothermal DNA amplification via EXPAR
7 auth.
J. Qian,
Tanya M. Ferguson,
D. Shinde,
Alissa J. Ramírez-Borrero,
A. Hintze,
C. Adami,
...
A. Niemz
|
6 |
2012 |
6
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De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome.
64 auth.
Jung-Hyun Kim,
D. Shinde,
Margot R. F. Reijnders,
N. Hauser,
R. L. Belmonte,
G. Wilson,
Daniëlle G. M. Bosch,
P. Bubulya,
V. Shashi,
S. Petrovski,
Joshua K. Stone,
E. Park,
J. Veltman,
M. Sinnema,
C. Stumpel,
...
J. Draaisma,
J. Nicolai,
H. Yntema,
K. Lindstrom,
B. D. de Vries,
T. Jewett,
S. Santoro,
J. Vogt,
Kristine Bachman,
Andrea Seeley,
Alyson Krokosky,
C. Turner,
L. Rohena,
M. Hempel,
F. Kortüm,
D. Lessel,
A. Neu,
T. Strom,
D. Wieczorek,
Nuria C. Bramswig,
F. Laccone,
J. Behunova,
H. Rehder,
C. T. Gordon,
M. Rio,
S. Romana,
Sha Tang,
D. El-Khechen,
M. Cho,
K. McWalter,
Ganka Douglas,
B. Baskin,
Amber Begtrup,
Tara L Funari,
K. Schoch,
A. Stegmann,
S. Stevens,
Dong-er Zhang,
D. Traver,
Xu Yao,
D. MacArthur,
H. Brunner,
G. Mancini,
R. Myers,
L. Owen,
S. Lim,
D. Stachura,
L. Vissers,
E. E. Ahn
|
6 |
2016 |
6
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A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy.
79 auth.
I. Helbig,
T. López-Hernández,
Oded Shor,
P. Galer,
S. Ganesan,
Manuela Pendziwiat,
Annika Rademacher,
C. Ellis,
Nadja Hümpfer,
N. Schwarz,
Simone Seiffert,
J. Peeden,
Joseph J. Shen,
K. Štěrbová,
T. Hammer,
...
R. Møller,
D. Shinde,
Sha Tang,
Lacey Smith,
A. Poduri,
R. Krause,
F. Benninger,
K. Helbig,
V. Haucke,
Y. Weber,
R. Balling,
N. Barišić,
S. Baulac,
H. Caglayan,
D. Craiu,
P. de Jonghe,
C. Depienne,
R. Guerrini,
H. Hjalgrim,
D. Hoffman-Zacharska,
J. Jähn,
K. Klein,
B. Koeleman,
V. Komárek,
E. Leguern,
A. Lehesjoki,
J. Lemke,
H. Lerche,
T. Linnankivi,
C. Marini,
P. May,
H. Muhle,
D. Pal,
A. Palotie,
F. Rosenow,
S. Schubert-Bast,
K. Selmer,
J. Serratosa,
S. Sisodiya,
U. Stephani,
P. Striano,
A. Suls,
T. Talvik,
S. von Spiczak,
S. Weckhuysen,
F. Zara,
P. Avillach,
Anna Bartels,
Sawona Biswas,
F. Bourgeois,
B. Devkota,
T. Glauser,
Barbara Hallinan,
Allison P. Heath,
J. Hirschhorn,
J. Kilbourn,
S. Kong,
I. Krantz,
In‐Hee Lee,
K. Mandl,
E. Marsh,
K. Sund,
Deanne M. Taylor,
P. White
|
6 |
2019 |
6
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🐜
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Classification of Genes: Standardized Clinical Validity Assessment of Gene–Disease Associations Aids Diagnostic Exome Analysis and Reclassifications
12 auth.
Erica D. Smith,
Kelly Radtke,
M. Rossi,
D. Shinde,
S. Darabi,
D. El-Khechen,
...
Z. Powis,
K. Helbig,
Kendra Waller,
D. Grange,
Sha Tang,
K. D. Farwell Hagman
|
6 |
2017 |
6
🐜
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Simple System for Isothermal DNA Amplification Coupled to Lateral Flow Detection
7 auth.
Kristina Roskos,
A. Hickerson,
Hsiang-Wei Lu,
Tanya M. Ferguson,
D. Shinde,
Yvonne Klaue,
...
A. Niemz
|
6 |
2013 |
6
🐜
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|
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The Molecular Anatomy of Spontaneous Germline Mutations in Human Testes
8 auth.
J. Qin,
P. Calabrese,
Irene Tiemann-Boege,
D. Shinde,
Song-Ro Yoon,
D. Gelfand,
...
Keith Bauer,
N. Arnheim
|
6 |
2007 |
6
🐜
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🐜
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A retrospective review of multiple findings in diagnostic exome sequencing: half are distinct and half are overlapping diagnoses
14 auth.
Erica D. Smith,
Kirsten Blanco,
Samin A Sajan,
J. Hunter,
D. Shinde,
Bess Wayburn,
M. Rossi,
Jennifer Huang,
C. Stevens,
Candace Muss,
...
W. Alcaraz,
Kelly D F Hagman,
Sha Tang,
Kelly Radtke
|
6 |
2019 |
6
🐜
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🐜
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Mutations in PMPCB Encoding the Catalytic Subunit of the Mitochondrial Presequence Protease Cause Neurodegeneration in Early Childhood.
28 auth.
F. Vögtle,
Björn Brändl,
A. Larson,
Manuela Pendziwiat,
Marisa W Friederich,
S. White,
Alice A. Basinger,
Cansu Küçükköse,
H. Muhle,
J. Jähn,
O. Keminer,
K. Helbig,
Carolyn F Delto,
Lisa Myketin,
Dirk Mossmann,
...
Nils Burger,
N. Miyake,
A. Burnett,
A. van Baalen,
M. Lovell,
N. Matsumoto,
Maie Walsh,
Hung-Chun Yu,
D. Shinde,
U. Stephani,
J. V. Van Hove,
F. Müller,
I. Helbig
|
6 |
2018 |
6
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