Page 253 - ASHG 2013 Program Guide

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POSTER SESSIONS
W=W
ednesday authors will present; T=Thursday authors will present; F=Friday authors will pr
esent
3112
F A comprehensive disease-mutation search of
mitochondrial respiratory chain disorder.
M. Kohda, Y.
Tokuzawa, Y. Moriyama, H. Kato, Y. Kishita, N. Uehara, S.
Tamaru, Y. Yamashita-Sugahara, Y. Nakachi, N. Matoba,
T. Yamazaki, M. Mori, K. Murayama, Y. Mizuno, A. Ohtake,
Y. Okazaki.
3113
W Mutation in
ATP6AP2
,
an essential accessary
subunit of vacuolar ATPase, causes X-linked Parkinson
disease with spasticity.
E. Korvatska, T. Strovas, D.-
H. Chen, J. B. Leverenz, K. Kiianitsa, I. F. Mata, D. A.
Nickerson, C. P. Zabetian, B. C. Kraemer, T. D. Bird, W. H.
Raskind.
3114
T Identification of genetic defects in cone and
cone-rod dystrophy by whole exome sequencing.
C.
Lazar, L. Zelinger, M. Mutsuddi, L. Mizrahi-Meissonnier, A.
Boleda, R. R. Priya, E. Banin, D. Sharon, A. Swaroop.
3115
F A novel germline
PIGA
mutation in ferro-
cerebro-cutaneous syndrome: A neurodegenerative
X-linked encephalopathy with epilepsy and systemic
iron-overload.
R. L. Margraf, E. M. Coonrod, J. Durtschi,
K. Mallempati, A. Kumanovics, T. M. Newcomb, J. M.
Opitz, J. C. Carey, H. Zhou, B. E. Katz, K. V. Voelkerding,
K. J. Swoboda.
3116
W Deciphering the genetic background of PEHO-
like syndrome.
M. Muona, A. Laari, A.-K. Anttonen, M.
Somer, A. Palotie, A.-E. Lehesjoki.
3117
T Aicardi Goutieres syndrome — Phenotypic
variability and diagnosis in a series of cases using
whole exome sequencing.
V. Narayanan, S. Szelinger, J.
J. Corneveaux, I. Schrauwen, A. L. Siniard, A. A. Kurdoglu,
I. Malenica, K. M. Ramsey, D. W. Craig, M. J. Huentelman.
3118
F Exome sequencing identifies mutations in a
novel gene in patients with Noonan syndrome.
T.
Niihori, Y. Aoki, T. Banjo, N. Okamoto, S. Mizuno, K.
Kurosawa, T. Ogata, F. Takada, M. Yano, T. Ando, T.
Hoshika, C. Barnett, H. Ohashi, H. Kawame, T. Hasegawa,
T. Okutani, T. Nagashima, S. Hasegawa, R. Funayama,
T. Nagashima, K. Nakayama, S. Inoue, Y. Watanabe, T.
Ogura, Y. Matsubara.
3119
W Identification of pathogenic variants in
idiopathic scoliosis.
S. Patten, E. Alix, A. Labalme, S.
Girard, B. Biot, C. Poizat, D. Sanlaville, J. Berard, G.
Rouleau, F. Clerget-Darpoux, P. Drapeau, F. Moldovan, P.
Edery.
3120
T Exome sequencing is the preferred approach
for identifying the genetic cause in consanguinous and
non-consanguinous recessive disease.
H. Smeets, J.
Vanoevelen, M. Gerards, R. Kamps, T. Theunissen, B. De
Koning, I. Boesten, M. van Geel, P. Lindsey, C. Stumpel,
M. Nguyen, M. Gerrits, S. Ghesquiere, S. Stevens, C. de
Die, B. van den Bosch, I. De Coo.
3121
F Next-generation sequencing identities
PXDN
mutations in patients with complex microphthalmia
and anterior segment eye disease.
A. Slavotinek, A.
Choi, R. Lao, P. Ling-Fung Tang, W. Mayer, E. Wan, T.
Bardakjian, P. Y. Kwok, A. Schneider.
3102
T Whole exome sequencing identifies nove
mutations in three families with GAPO syndrome.
D. Pehlivan, E. Karaca, T. Gambin, S. N. .Jhangiani, G.
G. Gonzaga-Jauregui, Y. Bayram, W. Wiszniewski, A.
H. Cebi, D. Muzny, M. M. Atik, R. A. Gibbs, M. Selman
Yildirim, A. Zamani, D. Gul, N. H. Elcioglu, B. Bozkurt, J.
R. Lupski.
3103
F A genome-wide catalogue of genetic
variants for nephrotic syndrome via whole genome
sequencing.
M. G. Sampson, A. Tan, C. A. Gadegbeku,
J. Sedor, M. Kretzler, H. M. Kang, Nephrotic Syndrome
Study Network (NEPTUNE), Michigan O’Brien Renal
Center (CPROBE).
3104
W Personalized functional genomics approach
elucidates novel Mendelian disease genes and
provides proof of pathogenicity for variants of
uncertain significance
P. Bonnen, A. Besse, S. Lalani,
W. Craigen, F. Scaglia, R. McFarland, C. Bacino, R. Taylor,
K. Scott.
3105
T Genotype-phenotype correlation in a national
mutation study of Danish patients with HHT.
P. M.
Torring, K. Brusgaard, L. B. Ousager, P. E. Andersen, A. D.
Kjeldsen, HHT Centre, Odense University Hospital.
3106
F Exome sequencing of subjects with congenital
insensitivity to pain and their family members
to reveal novel pain genes.
B. Zhang, W. He, J.
Stephens, B. Sidders, S. Scollen, S. Paciga, L. Wood,
M. Sudworth, G. Johnson, S. John, N. Danziger, C.
Vangjeli.
3107
W Whole exome sequencing of a dominant
retinitis pigmentosa family with female-specific
expressivity identifies a novel deletion in
PRPF31
.
E.
E. Davis, A. Villanueva, J. R. Willer, E. T. Dermitzakis, N.
Katsanis.
3108
T A new palmoplantar keratoderma with severe
erythermalgia allelic to Olmsted syndrome.
S.
Duchatelet, S. Pruvost, S. De Veer, S. Fraitag, P. Nitschké,
C. Bole-Feysot, C. Bodemer, A. Hovnanian.
3109
F A mutation in A-band titin is associated with
hereditary myopathy with early respiratory failure
in a Japanese family.
R. Izumi, T. Niihori, Y. Aoki, N.
Suzuki, M. Kato, H. Warita, T. Takahashi, M. Tateyama, T.
Nagashima, R. Funayama, K. Abe, K. Nakayama, M. Aoki,
Y. Matsubara.
3110
W Exome sequencing of familial Hodgkin’s kindreds.
V. Joseph, T. Thomas, M. Artomov, K. Schrader, A. Kiezun, C.
Manschreck, R. Rau Murthy, M. Corines, X. Wei, N. Gupta,
L. Margolin, A. Zelenetz, C. Portlock, G. Getz, R. Klein, D.
Haber, M. Daly, S. Lipkin, D. Altshuler, K. Offit.
3111
T
ITPR2
loss-of-function mutation causes familial
generalized anhidrosis and hyperthermia.
J. Klar, C.
Hisatsune, S. M. Baig, M. Tariq, A. C. V. Johansson, M.
Rasool, N. A. Naveed, K. Sugiura, L. Feuk, K. Mikoshiba,
N. Dahl.