Page 233 - ASHG 2013 Program Guide

ednesday authors will present; T=Thursday authors will present; F=Friday authors will pr
W Recognition of disease-associated alleles in the
reference sequence is critical for accurate disease-
risk assessment through genome sequencing.
Chandratillake, S. Garcia, R. Chen, M. Clark, S. Chervitz,
D. Newburger, H. Lam, J. West, R. Chen.
Clinical Genetics and Dysmorphology
W Autism associated with an Xq12 deletion involving
the gene
Importance of pursuing a genetic
etiology for an autism spectrum disorder.
E. Elias.
T Cell malignitation associated to chromosome
translocations: Clinical manifestations in two pediatric
patients 46,XY,t(1;4)(q11q11) and 46,XY,t(6;9)(p21;q34).
J. Aparicio, M. L. Hurtado H., S. Chatelain M.
F A balanced chromosome translocation reveals
involvement of a predicted lipase in weight gain,
hearing loss and tumor suppression.
B. B. Currall, K. E.
Wong, N. G. Robertson, T. Hoyos, A. E. Hickox, Y. Yin, B.
J. Quade, M. C. Liberman, E. C. Liao, C. C. Morton.
W Genitourinary defects associated with genomic
deletions in 2p15 involving
C. Jorgez, J.
Rosenfeld, N. Wilken, V. Vangapandu, A. Sahin, D. Pham,
C. Carvalho, A. Bandholz, A. Miller, D. Weaver, B. Burton,
D. Babu, J. Bamforth, T. Wilks, D. Flynn, E. Roeder, S.
Cheung, J. Lupski, D. Lamb.
T 6q24.3-q25.1 Deletion syndrome.
Y. Nishi, M.
Tominaga, H. Ueda, Y. Kuroda, I. Ohashi, T. Saito, J. Nagai,
K. Kurosawa.
F An infant with 49,XXXXY syndrome and
congenital cataract.
C. Vinkler, A. Ben Sasson, A. Singer.
W Aiding the interpretation of CNV and sequence
variation in DECIPHER using the Genoverse
genome browser.
E. Bragin, E. A. Chatzimichali, G. J.
Swaminathan, A. P. Bevan, C. F. Wright, M. E. Hurles, H.
V. Firth.
T The diagnostic yield of chromosomal microarray
analysis in a large multidisciplinary craniofacial clinic.
K. Dipple, J. Peredo, J. P. Bradley, R. Jarrahy, F. Quintero-
F Effects of upregulation of the SHH pathway on
Ts65Dn, a mouse model of Down syndrome.
T. Dutka,
N. Singh, J. T. Richtsmeier, R. Reeves.
W 46,X,del(X)(p11.2) Turner syndrome patient with
severe keratoconus.
L. Gabriel, L. Junior, T. Oliveira, I.
Silva, L. Chaves, C. Sousa, L. Elias, L. Mendonça, R. Filho,
L. Lavigne, J. Filho, J. Jaime, M. Avila.
T Heterotaxy in a woman with mosaic Turner
P. Kannan, A. E. Lin, N. S. Scott, I. Sahai.
F Dilated cardiomyopathy in a patient with
Pallister Killian syndrome while on a ketogenic diet.
Lazier, J. Harder, M. A. Thomas.
F A comprehensive low-cost diagnostic test for
hundreds of inherited conditions.
J. Garcia, J. Sorenson,
M. Sommargren, J. Westbrook, E. Hare, Y. Kobayashi,
M. Anderson, J. Major, R. Hart, K. Jacobs, E. Oliveras,
J. Hagenkord, S. Lincoln, M. Cargill, R. Scott.
W A case in point: When is extended genotyping
of AAT (
S. Kwong, J. Stoller, F.
Mularo, F. Lacbawan.
T The NIH Genetic Testing Registry: 2013 status
report on genetic testing.
W. S. Rubinstein, B. L.
Kattman, A. J. Malheiro, J. M. Lee, D. R. Maglott, V. Hem,
M. Ovetsky, G. Song, C. Wallin, K. S. Katz, R. Villamarin-
Salomon, C. Fomous, J. M. Ostell.
F Diagnostic exome sequencing beneficial among
patients with a prior diagnosis.
L. M. Shahmirzadi, K.
D. Gonzalez, S. Tang, E. Chao, S. Gandomi, B. Trippin, S.
Nahas, W. Zeng.
W A retrospective analysis of discrepancies
between genotypes and phenotypes on next-
generation sequencing colon cancer panels (ColoNext
NGS): Implications for clinical diagnosis.
S. Tandy,
A. Stuenkel, T. Pesaran, H. LaDuca, E. Chen, S. Keiles,
V. Speare, C. Radford, W. Zeng.
T Pre-publication sharing of exome/genome
variant and phenotype data to resolve rare disease.
J. Den Dunnen, I. F. A. C. Fokkema, M. Vermaat, J. F. J.
Laros, M. Kriek, P. E. M. Taschner, G. W. E. Santen.
F Multiplex mutation panel for molecular
diagnostics of increased nuchal translucency with
normal karyotype.
P. Tavares, J. Sá, A. Lopes, L.
Lameiras, L. Dias, A. Palmeiro, P. Rendeiro.
W Clinical interpretation accuracy of CytoScan®
Dx assay.
J. Tepperberg, S. Schwartz, A. Roter, C. Du, R.
Duttagupta, G. Mamtora, J. Danzer, J. Wallace, S. Close,
K. Kwiatkowski, E. Fung, R. Pfundt.
T Clinical application for gene disorders in
children using bench top sequencer.
T. Naruto, Y.
Kuroda, I. Ohashi, K. Kurosawa.
F Cancer risk assessment using genetic panel
testing: Considerations for clinical application.
S. Hiraki, E. Rinella, F. Schnabel, R. Oratz, H. Ostrer.
W Sex determination using free fetal DNA at
early gestational ages: A comparison between a
modified mini-STR genotyping method and eal-
time PCR.
H. R. Goodarzi, M. R. Aghanouri, Y. Yazdani,
G. Mohammadzadeh Shahriary, S. Abbas Zadeh, S.
T Exome sequence of genetic disorders in
consanguineal family.
G. Atzmon, D. Ben Avraham,
B. Pode-Shakked, Y. Anikster.
F Whole exome sequencing for cancer — Is there
evidence of clinical utility?
A. Malhotra, L. Cushman-
Spock, L. Wieselquist, S. Levine, D. Allingham-Hawkins.