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935T Advanced capture-sequencing: New designs and
multiplexing for whole exome and regional capture
sequencing applications.
D. Muzny, I. Newsham, M.
Wang, Y. Wu, C. Kovar, A. Sabo, R. Chen, J. Reid, M.
Bainbridge, E. Boerwinkle, T. Albert, R. Gibbs.
936T Rapid Illumina library quality assessment using
MiSeq.
D. Perrin, I. Rasolonjatovo, D. Dionne, T. Fennell,
M. Costello, S. Humphray, T. DeSmet, J. Meldrim, S.
Fisher, R. Nicol.
937T Scaling with the flow: Advantages of a
MapReduce-based scalable and high-throughput
sequencing workflow.
L. Pireddu, S. Leo, F. Reinier, R.
Berutti, R. Atzeni, G. Zanetti.
938T Automated pyrosequencing using digital
microfluidics.
M. G. Pollack, D. J. Boles, J. L. Benton, G.
J. Siew, M. H. Levy, M. A. Sandahl, J. L. Rouse, L. C.
Perkins, V. K. Pamula, V. Srinivasan, A. E. Eckhardt.
939T High accuracy genome sequencing on the
Illumina HiSeq platform.
S. R. Rawlings, S. Humphray, K.
Maisinger, V. P. Smith, J. Gordon, S. Tanner, C. Tregidgo,
G. Smith, K. Hall, D. Bentley.
940T Optimizing DNA shearing utilizing Bulk Lateral
Ultrasonic
energy.
S. Sharma, K. Dev, V. Vivek, J.
Shieh, B. Jamieson.
941T De novo assembly and haplotype sequencing
from short sequencing reads.
F. Steemers, S. Amini, N.
Pignatelli, C. Turk, I. Goryshin, T. Royce, M. Ronaghi, K.
Gunderson.
942T Automated library preparation for next-
generation sequencing using digital microfluidics.
A. P.
Sudarsan, J. L. Rouse, R. R. Dhopeshawrkar, A. Rival, A.
E. Eckhardt, N. Mushero, M. Weiand, B. Minie, P. Cahill,
M. G. Pollack.
943T Complete solution for next-generation
sequencing sample preparation of Roche’s GS FLX
Titanium Series Kits.
R. Zhang.
Clinical Genetics and Dysmorphology
944T Molecular analysis of mutations in
COL4A3
gene,
in Mexican patients with Alport syndrome.
B.
Rodriguez-Espino, A. Sanchez-Boiso, R. Garcia-Vazquez,
A. M. Hernandez-Sanchez, L. M. Ortiz-Vaquez, M. I. P.
Garcia-Roca, B. Romero-Navarro, Y. Fuentes-Velasco, M.
Medeiros-Domingo.
945T Overlapping features of Mehes and Potocki-
Lupski syndromes: Report of an adult patient with
Mehes phenotype and 17p11.2 duplication.
P. Sarda, K.
Hollody, M. Vincent, M. Girard, A. Schneider, G. Lefort, J.
Puechberty, D. Genevieve.
Thursday Poster Authors are reminded to remove posters from the boards at 4:00 pm.
946T 22q11 Deletion syndrome at Siriraj Hospital,
Bangkok, Thailand: 16 years review (1995-2011).
A.
Sathienkijkanchai, N. Vatanavicharn, P. Wasant.
947T Molecular confirmation of Costello syndrome i
siblings and use of allelic specific amplification to
determine parent of origin in a cohort of patient wit
HRAS
germline mutations.
K. Sol-Church.
948T Analysis of deletions in 22 Brazilian cases of
Williams-Beuren syndrome.
D. H. Souza, M. Yoshimot
L. R. Martelli, J. A. Squire, D. Moretti-Ferreira.
949T Refinement of the Jacobsen syndrome critical
region for thrombocytopathy by aCGH.
D. J.
Stavropoulos, Y. Diab, W. H. Kahr, R. Babul-Hirji, D.
Chitayat.
950T A novel FOXG1 mutation causing congenital R
syndrome presenting with lactic acidosis.
M. Strenk,
Atherton, C. Saunders, B. Heese.
951T Müllerian anomalies should be considered a
component of the clinical phenotype of 16p11.2
deletion syndrome.
R. D. Susman, R. M. Kimble.
952T A novel frame-shift mutation in the NHS gene
associated with significant dental and behavioral
phenotypes in females in a family with Nance Horan
syndrome.
M. Szybowska, A. Levine, A. Toutain, C. Li.
953T Palate abnormalities in Chilean patients with
chromosome 22q11 microdeletion syndrome.
M.
Vasquez, M. Palomares, M. L. Guzman, G. Lay-Son, G.
Repetto.
954T The Pitt-Hopkins syndrome: Report of 20 new
patients and proposal of a clinical score for the
molecular test.
M. Zollino, S. Ricciardi, D. Orteschi, S.
Lattante, M. Murdolo, G. Marangi.
955T
JARID2
isolated deletion is associated with vel
palatal insufficiency, hypotonia and developmental
delay.
T. Zvi, Y. Yaron, A. Orr-Urtreger, S. Ben-Shachar.
956T Mosiac trisomy 22 and normal developmental
outcome: Report of two cases and review of the
literature.
D. Abdelgadir, C. Li, M. J. M. Nowaczyk.
957T A complex de novo 4 cell line mosaic with gai
of 4p15.32pter and 12p13.31pter in a patient with
intellectual disability, scoliosis and foot abnormalitie
S. Ahmed, K. Reddy.
958T A de novo 4.7 Mb deletion 6p21.2p21.31 and a
insertion of chromosome 6p23p21.31 into
chromosome 3q26.32 with a pericentric inversion
3p25q26.32.
D. Broome, K. Reddy.
959T Characterization of the derivative X chromoso
resulting from Xq;Yq translocation in a female with
recurrent abortion.
E. Y. Choi, D. E. Lee, B. Y. Lee, J.
Park, I. S. Kang, H. M. Ryu, S. Y. Park.