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929F Detection of BRAF v600e to 0.1% using
unlabeled probes and high resolution melting through
amplification bias.
M. Poulson, C. Gundry, R. Crisp.
930F Very high sensitivity somatic mutation detection
using Ice COLD-PCR and BLOCker sequencing.
Richardson, P. Eastlake, B. Legendre, G. Wu, R. Lin, Y.
Shi, S. Jansen, S. Peterson, K. Echtenkamp, E. Comtois,
J. Sommer.
931F Identifying diagnostic EGFR mutants by real-time
PCR with new DDS probe systems.
D. A. Shafer, P. Hu,
D. Xie, C. E. Hill, M. Rossi, M. Bouzyk.
932F Single-day, highly multiplexed library preparation
for amplicon sequencing with MiSeq.
A. Tian, E.
Guzman, M. Won, W. Chang, D. Pokholok, R. Haigis, A.
Iyer, E. Upsall, I. Lewis, S. Norberg, M. Ronaghi, K.
Gunderson, R. Shen, C. Lin.
933F Enhanced genome assembly using single
molecule, nanochannel analysis.
J. Sibert, O. Hampton,
R. Mohr, S. Billeru, H. Sadowski, J. Finklestein, M. Austin,
M. Requa, D. Bozinov, H. Cao.
934F Miniaturize genotyping reactions with the Echo®
liquid handler.
T. Allison, C. Glazer, J. Barco, S. Datwani.
935F Taking Life Technologies' SOLiD
total RNA Seq
kit to the next level.
D. M. Batten, N. Hernandez, C. San
Jose Hinahon, J. Gu, K. Lea, J. Brockman, J. Schageman,
P. Whitley, S. Heater, K. Bramlett.
936F Exome capture of cDNA increases ability to
detect splice junctions and low level transcription.
Feuk, J. Halvardson, A. Zaghlool.
937F Comparison of RNA fragmentation methods for
J. Gu, K. Lea, S. Heater, J. Schageman, K.
938F Enabling RNA-seq on the Ion torrent PGM.
Sanderson, N. Hernandez, D. Batten, J. Cienfuegos, J.
Gu, S. Heater, K. Lea, L. Qu, C. San Jose, M. Gonzales,
K. Bramlett.
939F Detection of genomic components in a DNA
mixture using allele-specific real-time PCR assays
targeting insertion/deletion polymorphisms.
R. Fang,
M. Schumaker, D. Merrill, S. N. Liew, M. R. Furtado.
940F LifeScope software: Easy analysis of high
accuracy next-generation sequencing for the 5500
Genetic Analyzer using ECC chemistry.
F. C. L. Hyland,
S. Utiramerur, H. Breu, Y. Lou, C. Yang, M. Sikora, S.
Datta, X. Xu, E. Tsung, D. Brinza.
941F Low-cost, high-throughput DNA fingerprinting for
DNA quality control in a biobank setting with Fluidigm
S. N. Meyers, K. Ilic, X. Wang, G. Sun,
W. Hwang, Y. Yi, J. A. Tischfield, A. I. Brooks, M. A.
Unger, R. C. Jones, J. Wang.
Friday Poster Authors are reminded to remove posters from the boards at 4:00 pm.
The Exhibit Hall will close at 4:30 pm.
942F Using whole blood to create induced pluripote
stem cells for the study of autism spectrum disorde
B. DeRosa, J. M. Vance, M. A. Pericak-Vance, D. M.
Clinical Genetics and Dysmorpholog
944F Changing facial phenotype in Cohen syndrome
Towards clues for earlier diagnosis.
S. El Chehadeh-
Djebbar, E. Blair, M. Holder, A. Moncla, A. M. Frances,
Rio, F. G. Debray, P. Rump, A. Masurel-Paulet, N. Gigot
Callier, L. Gueneau, L. Duplomb, B. Aral, F. Huet, C.
Thauvin-Robinet, L. Faivre.
945F ZEB2 missense mutations leading to an unusu
presentation of Mowat-Wilson syndrome with
moderate intellectual disability.
J. Ghoumid, A. Brian
Suleau, L. Drevillon, L. Goodwin, A. Moncla, P. Raymon
N. Bondurand, A. Amiel, M. Goossens, S. Lyonnet, D.
Mowat, I. Giurgea.
946F Long-term clinical follow-up of a boy with a de
novo deletion 12p13.33-p13.32 and duplication
12p13.2-p11.1 characterized by microarray-CGH.
947F A population study of Prader-Willi syndrome in
S. Lam, H. Luk, T. Tong, K. Lai, I. Lo.
948F Deletion of the MBD5 gene is associated with
distinct phenotype.
G. J. Noh, J. M. Graham, Jr.
949F Copy number variation analysis in cohesion/
condensin genes by a CGH in Cornelia de Lange
syndrome patients.
D. Pehlivan, M. Hullings, C. M. B.
Carvalho, C. G. Gonzaga-Jauregui, E. Loy, L. G. Jackso
I. D. Krantz, M. A. Deardorff, J. R. Lupski.
950F Nail-patella syndrome: Of a new case.
E. J.
Ramirez-Lizardo, S. E. Totsuka Sutto, T. A. Garcia Cobi
L. Garcia Benavides, D. Roman Rojas, E. G. Cardona
951F Genetic testing of Ras/MAPK pathway
syndromes at Tohoku University.
Y. Saito, Y. Aoki, T.
Niihori, Y. Abe, S. Kure, H. Ohashi, K. Kurosawa, N.
Okamoto, H. Kawame, S. Mizuno, T. Ogata, S. Kuriyam
Y. Matsubara.
952F A case of hemiparesis, hemihypoplasia, and
athetoid posture with unilateral vision loss: An
example of a very rare disorder, familial porencepha
H. Ulucan, A. Koparir, M. Seven, E. Yosunkaya, G. Guv
M. Ozen, A. Yuksel.
953F Mandibulofacial dysostosis and bowed femora
new syndrome.
K. N. Weaver, E. A. Sellars, P. L. Bend
C. B. Gordon, H. M. Saal.