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🐜
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A novel germline PIGA mutation in Ferro‐Cerebro‐Cutaneous syndrome: A neurodegenerative X‐linked epileptic encephalopathy with systemic iron‐overload
12 auth.
K. Swoboda,
R. Margraf,
J. Carey,
Holly Zhou,
T. Newcomb,
Emily M. Coonrod,
...
J. Durtschi,
K. Mallempati,
A. Kumánovics,
B. Katz,
K. Voelkerding,
John M. Opitz
|
6 |
2014 |
6
🐜
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|
🐜
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Next-generation sequencing reveals new information about HLA allele and haplotype diversity in a large European American population.
9 auth.
L. Creary,
Sridevi Gangavarapu,
K. Mallempati,
G. Montero-Martín,
S. Caillier,
A. Santaniello,
...
J. Hollenbach,
J. Oksenberg,
M. Fernández-Viña
|
5 |
2019 |
5
🐜
|
|
🐜
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Quality control project of NGS HLA genotyping for the 17th International HLA and Immunogenetics Workshop.
79 auth.
K. Osoegawa,
T. Vayntrub,
S. Wenda,
D. de Santis,
Konstantinos Barsakis,
M. Ivanova,
S. Hsu,
Jonathan Barone,
R. Holdsworth,
M. Diviney,
M. Askar,
A. Willis,
D. Railton,
Sophie Laflin,
K. Gendzekhadze,
...
A. Oki,
N. Sacchi,
M. Mazzocco,
M. Andreani,
Reem Ameen,
C. Stavropoulos‐Giokas,
A. Dinou,
M. Torres,
Rodrigo dos Santos Francisco,
C. Serra-Pages,
D. Goodridge,
S. Balladares,
M. Bettinotti,
Brian S. Iglehart,
Z. Kashi,
Russell K. Martin,
C. Saw,
J. Ragoussis,
J. Downing,
C. Navarrete,
W. Chong,
Katsuyuki Saito,
M. Petrek,
S. Tokić,
K. Padros,
Ma Beatriz Rodriguez,
V. Zakharova,
O. Shragina,
S. Marino,
N. Brown,
T. Shiina,
Shingo Suzuki,
E. Spierings,
Qiuheng Zhang,
Yuxin Yin,
G. Morris,
Ana Hernandez,
P. Ruiz,
Seik-Soon Khor,
K. Tokunaga,
A. Geretz,
Rasmi Thomas,
F. Yamamoto,
K. Mallempati,
Sridevi Gangavarapu,
U. Kanga,
S. Tyagi,
S. Marsh,
Will P. Bultitude,
Xiangjun Liu,
Dajiang Cao,
M. Penning,
C. Hurley,
A. Cesbron,
C. Mueller,
J. Mytilineos,
E. Weimer,
M. Bengtsson,
G. Fischer,
J. Hansen,
Chia-Jung Chang,
S. Mack,
L. Creary,
M. Fernández-Viña
|
4 |
2019 |
4
🐜
|
|
🐜
|
HLA alleles and haplotypes observed in 263 US families.
16 auth.
K. Osoegawa,
K. Mallempati,
Sridevi Gangavarapu,
A. Oki,
K. Gendzekhadze,
S. Marino,
N. Brown,
M. Bettinotti,
E. Weimer,
G. Montero-Martín,
...
L. Creary,
T. Vayntrub,
Chia-Jung Chang,
M. Askar,
S. Mack,
M. Fernández-Viña
|
4 |
2019 |
4
🐜
|
|
🐜
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High-resolution characterization of allelic and haplotypic HLA frequency distribution in a Spanish population using high-throughput next-generation sequencing.
21 auth.
G. Montero-Martín,
K. Mallempati,
Sridevi Gangavarapu,
F. Sanchez-Gordo,
M. J. Herrero-Mata,
A. Balas,
J. Vicario,
F. Sánchez‐garcía,
M. González-Escribano,
M. Muro,
...
M. Moya-Quiles,
R. González-Fernández,
J. Ocejo-Vinyals,
L. Marín,
L. Creary,
K. Osoegawa,
T. Vayntrub,
J. L. Caro-Oleas,
C. Vilches,
D. Planelles,
M. Fernández-Viña
|
4 |
2019 |
4
🐜
|
|
🐬
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VarBin, a novel method for classifying true and false positive variants in NGS data
J. Durtschi,
R. Margraf,
Emily M. Coonrod,
K. Mallempati,
K. Voelkerding
|
4 |
2013 |
4
🐬
|
|
🐜
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Limited Variation in BK Virus T-Cell Epitopes Revealed by Next-Generation Sequencing
14 auth.
M. Sahoo,
S. Tan,
Sharon F Chen,
Beatrix Kapusinszky,
Katie Concepcion,
Lynn Kjelson,
K. Mallempati,
Heidi M Farina,
M. Fernández-Viña,
D. Tyan,
...
P. Grimm,
Matthew W. Anderson,
W. Concepción,
B. Pinsky
|
4 |
2015 |
4
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|
