|
🐜
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Germline mutations in NFKB2 implicate the noncanonical NF-κB pathway in the pathogenesis of common variable immunodeficiency.
17 auth.
Karin Chen,
Emily M. Coonrod,
A. Kumánovics,
Zechariah F. Franks,
J. Durtschi,
R. Margraf,
Wilfred Wu,
N. Heikal,
N. Augustine,
P. Ridge,
...
H. Hill,
L. Jorde,
A. Weyrich,
G. Zimmerman,
A. Gundlapalli,
J. Bohnsack,
K. Voelkerding
|
7 |
2013 |
7
🐜
|
|
🐜
|
Phevor combines multiple biomedical ontologies for accurate identification of disease-causing alleles in single individuals and small nuclear families.
12 auth.
M. Singleton,
S. Guthery,
K. Voelkerding,
Karin Chen,
Brett J. Kennedy,
R. Margraf,
...
J. Durtschi,
K. Eilbeck,
M. G. Reese,
L. Jorde,
C. Huff,
M. Yandell
|
7 |
2014 |
7
🐜
|
|
🦁
|
Multiple endocrine neoplasia type 2 RET protooncogene database: Repository of MEN2‐associated RET sequence variation and reference for genotype/phenotype correlations
7 auth.
R. Margraf,
D. Crockett,
P. Krautscheid,
Ryan Seamons,
F. Calderon,
C. Wittwer,
...
R. Mao
|
7 |
2009 |
7
🦁
|
|
🐜
|
A unified test of linkage analysis and rare-variant association for analysis of pedigree sequence data
25 auth.
Hao Hu,
J. Roach,
H. Coon,
S. Guthery,
K. Voelkerding,
R. Margraf,
J. Durtschi,
S. Tavtigian,
Shankaracharya,
Wilfred Wu,
P. Scheet,
Shuoguo Wang,
Jinchuan Xing,
Gwênlyn Glusman,
R. Hubley,
...
Hong Li,
V. Garg,
B. Moore,
L. Hood,
D. Galas,
D. Srivastava,
M. G. Reese,
L. Jorde,
M. Yandell,
C. Huff
|
6 |
2014 |
6
🐜
|
|
🐜
|
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
🐜
|
|
🐜
|
Genotyping of human platelet antigens 1 to 6 and 15 by high-resolution amplicon melting and conventional hybridization probes.
8 auth.
M. Liew,
Lesa M. Nelson,
R. Margraf,
S. Mitchell,
M. Erali,
R. Mao,
...
E. Lyon,
C. Wittwer
|
6 |
2006 |
6
🐜
|
|
🐜
|
Closed-tube SNP genotyping without labeled probes/a comparison between unlabeled probe and amplicon melting.
8 auth.
M. Liew,
M. Seipp,
J. Durtschi,
R. Margraf,
S. Dames,
M. Erali,
...
K. Voelkerding,
C. Wittwer
|
5 |
2007 |
5
🐜
|
|
🐬
|
Nonrandom segregation of parental alleles in reovirus reassortants
M. Nibert,
R. Margraf,
K. Coombs
|
5 |
1996 |
5
🐬
|
|
🦁
|
Mutation scanning of the RET protooncogene using high-resolution melting analysis.
R. Margraf,
R. Mao,
W. Highsmith,
Leonard M. Holtegaard,
C. Wittwer
|
5 |
2006 |
5
🦁
|
