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1050W If it’s free, do people necessarily agree? Uptake
of parental testing after abnormal array comparative
genomic hybridization in our clinical genetics
experience.
N. Shur, J. Bernabe, J. T. Machan, K.
Hovanes, E. Morrow, D. Abuelo.
1051W Resolving the genetics of a disease phenocopy
by linkage mapping and high-throughput-sequencing.
J. L. Blouin, M. Failly, A. Letourneau, A. Munoz, C. Iseli, D.
Robyr, C. D. Delozier, S. E. Antonarakis, S. Ala-Mello, L.
Bartoloni.
1052W Not knowing the odds is terrible: Patient and
provider experiences with the uncertainties of prenatal
microarray testing.
D. Soucier, B. Bernhardt for NICHD
Prenatal Microarray Study Group.
1053W Web-based expert review system of clinical
genetics website.
H. Numabe, S. Muzuno, N. Sakai, N.
Okamoto, T. Ikeda, Y. Fukushima.
1054W Frequency estimation of low-level somatic
mosaicism for pathogenic CNVs.
I. M. Campbell, S. C.
S. Nagamani, A. Erez, C. Robberecht, A. Ester, M. Bartnik,
B. Wisniowiecka-Kowalnik, K. Derwinska, E. Bocian, K. S.
Plunkett, A. N. Pursley, C. A. Shaw, S.-H. L. Kang, W. Bi,
S. R. Lalani, C. A. Bacino, A. Patel, J. A. Veltman, L. E.
Vissers, J. R. Vermeesch, S. W. Cheung, L. R. Lupski, P.
Stankiewicz.
1055W Trends in genetic counseling in India:
Experience from one genetic center.
S. Bijarnia, R. D.
Puri, U. Kotecha, S. Kohli, M. Jain, J. Verma, R. Saxena,
M. Lall, I. C. Verma.
1056W Characteristics of healthy participants in a
whole genome sequencing study.
M. K. Cho, C.
Caleshu, L. Hudgins, H. Greely, S. J. Lee, K. E. Ormond.
1057W Evaluation of a molecular genetic testing
strategy for autosomal dominant retinitis pigmentosa
and its translation into the genetic counselling
process.
M. A. Day, J. E. Sutherland, E. Heon.
1058W A primary care model for assessing patient
disease risk based on family health history:
Description and preliminary analysis.
V. C. Henrich, E.
Hauser, L. Orlando, C. Christianson, A. Buchanan, K. P.
Powell, A. Agbaje, G. Ginsburg, Genomedical Connection.
1059W A comparison study of the practices of genetic
counsellors between France and Canada.
E. Le Boette,
M. Edmont, M.-A. Voelckel, J.-L. Mandel, H. Sobol, C.
Cordier.
1060W Personal genotyping in genetics faculty
members considering personal whole genome
sequencing.
K. E. Ormond, L. Hudgins, C. Caleshu, H.
Greely, S. J. Lee, M. K. Cho.
Wednesday Poster Authors are reminded to remove posters from the boards at 6:30 pm.
1061W An integrated program for care of children w
agenesis of the corpus callosum encompassing
caregivers, clinical services and research.
K. Pope,
Spencer-Smith, D. Amor, M. Delatycki, P. Lockhart, A.
McIlroy, G. McGillivray, V. Anderson, R. Leventer.
1062W Utility of fetal autopsy evaluation on genetic
counseling in developing countries.
R. D. Puri, U. K.
Kotecha, S. B. Bijarnia, M. L. Lall, P. S. Savior, R. S.
Saxena, I. C. V. Verma.
1063W U.K. recognition of international genetic
counsellor training and registration: A continuing
dialogue.
B. Stayner, J. Walford-Moore, A. Middleton o
behalf of Genetic Counsellor Registration Board.
1064W Introducing Lexigene: An online French-Engli
lexicon of terms related to genetic counseling.
R.
Vanneste, G. Sillon, J. Hathaway, M. Cloutier.
1065W The first year: Impressions from clinicians an
families following clinical utilization of whole genom
sequencing.
R. Veith, S. Dugan, A. White, A. Laedtke,
Kopesky, D. Bick, D. Dimmock.
1066W MutaDATABASE, a standardized, centralized,
open access database of variants leading to human
genetic disease.
P. Willems.
1067W Application of next-generation sequencing in
molecular diagnosis of mitochondrial disorders.
R. B
M. saifi, S. Suchy, J. Higgs, M. Knight, S. Warren, J.
Compton, F. Gibellini, S. Buchholz, S. Benhamed, B.
Boggs, C. Chinault, Y. Shevchenko, G. Richard, S. Bale
Compton.
1068W Novel
MLL2
mutations identified in Kabuki
syndrome.
R. K. Basran, A. Milunsky, T. A. Maher, J. M
Milunsky.
Molecular Basis of Mendelian
Disorders
1069W Autosomal dominant congenital nonprogress
spinocerebellar ataxia is associated with a missens
mutation in the
ITPR1
gene.
L. Huang, R. Zou, M.
Carter, D. E. Bulman, K. M. Boycott.
1070W Discovery of a probable gene mutation causi
mental retardation, microsomia, and signs of skelet
dysplasia in an Arab family with a previously
undelineated autosomal recessive disorder.
M. Osm
Y. Al-Saraj, G. Billedo, S. Zaineddin, H. El-Shanti, J. Ala
1071W Exome sequencing for noncoding regions:
Identification of the first branch point deletion in
Aarskog-Scott syndrome.
M. H. Breuning, Y. Sun, E.
Aten, R. al Momani, T. Messemaker, J. F. J. Laros, S. M
Maas, J. T. den Dunnen.