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Saturday, October 15
10:30
AM
–12:30
PM
(SESSION 67, continued)
244
/12:10
A gene involved in metabolism
modulates natural variation in sleep duration: From
genome-wide association studies to function in
Drosophila
.
K. Allebrandt, N. Amin, B. Müller-Myhsok,
T. Esko, M. Teder-Laving, R. Azevedo, C. Hayward, J.
van Mill, N. Vogelzangs, E. Green, S. Melville, P.
Lichtner, H. Wichmann, B. Oostra, C. Janssens, H.
Campbell, J. Wilson, A. Hicks, P. P. Pramstaller, Z.
Dogas, I. Rudan, M. Merrow, B. Penninx, C. Kyriacou,
A. Metspalu, C. van Duijn, T. Meitinger, T. Roenneberg.
12:25
Questions and answers.
P. Majumder. Natl.
Inst. of Biomed. Genomics, India.
Cameras and all other recording devices are
strictly prohibited
in all session rooms. Thank you for your cooperation
Saturday, October 15
1:30
PM
–3:30
PM
Concurrent Platform Session D (68-77
SESSION 68 – Clinical Genetics III: Copy Number
Variants and Disease
Room 210, Level 2, Convention Center
Moderators:
Neil Hanchard, Baylor Col. of Med., US
Anita Rauch, Univ. of Zurich, Switzerland
246
/1:30
17p13.3 Microduplications are associate
with split-hand/foot malformation and long bone
deficiency.
C. Armour, D. E. Bulman, O. Jarinova, R
C. Rogers, K. B. Clarkson, B. R. DuPont, A. Dwivedi
F. O. Bartel, L. McDonell, C. E. Schwartz, K. M.
Boycott, D. B. Everman, G. E. Graham.
245
/1:45
Non-Mendelian inheritance in split-hand
foot malformation associated with CNVs on
chromosome 17p.
E. Klopocki, S. Lohan, S. C.
Doelken, S. Stricker, C. W. Ockeloen, R. Soares Thi
de Aguiar, K. Lezirovitz, R. C. Mingroni Netto, A.
Jamsheer, H. Shah, I. Kurth, R. Habenicht, M. Hemp
M. Warman, K. Devriendt, U. Kordass, A. Rajab, O.
Mäkitie, M. Naveed, U. Radhakrishna, S. E.
Antonarakis, D. Horn, S. Mundlos.
247
/2:00
A copy number variation morbidity map
developmental delay.
B. P. Coe, G. M. Cooper, S.
Girirajan, J. A. Rosenfeld, T. Vu, C. Baker, C. William
H. Stalker, R. Hamid, V. Hannig, H. Abdel-Hamid, P.
Bader, E. McCracken, D. Niyazov, K. Leppig, H.
Thiese, M. Hummel, N. Alexander, J. Gorski, J.
Kussmann, V. Shashi, K. Johnson, C. Rehder, B. Bal
L. G. Shaffer, E. E. Eichler.
248
/2:15
Single gene copy number abnormalities
syndromic cardiovascular malformations.
J.
Belmont, Q. Tian, J. Flores, M. Azamian, P. M. Boon
C. Shaw, S. Ware, J. R. Lupski, A. Ester, L. Patterso
S. W. Cheung, D. Penny, S. Lalani.
249
/2:30
De novo and rare inherited genomic
alterations reveal genes responsible for isolated
congenital diaphragmatic hernia and pentalogy o
Cantrell phenotypes.
D. A. Scott, M. J. Wat, D.
Veenma, J. Hogue, A. M. Holder, Z. Yu, J. J. Wat, N
Hanchard, O. A. Shchelochkov, C. J. Fernandes, A.
Johnson, K. P. Lally, A. Slavotinek, O. Danhaive, T.
Schaible, S. W. Cheung, K. A. Rauen, V. S. Tonk, D.
Tibboel, A. de Klein.
250
/2:45
A DNA copy number variant conferring
increased susceptibility to expressive speech del
in a distinct population.
W. Wiszniewski, J. V. Hunt
N. A. Hanchard, Q. Tian, S. W. Cheung, P.
Stankiewicz, A. Ester, M. K. York, P. Bader, G. Schar
H. Crawford, A. Mutirangura, P. Yanatatsaneejit, J.
Kerr, M. Hurles, R. Goin-Kochel, G. Zapata, G.
Simpson, L. Immken, M. E. Haque, M. Stosisc, N. V
Vink Chau, S. Dunstan, C. Simmons, M. Hibberd, C.
C. Khor, M. Maletic-Savatic, J. W. Belmont, J. R.
Lupski, S. R. Lalani.