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Issue Date
Title
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2018-03-01
Integrating exome sequencing into a diagnostic pathway for epileptic encephalopathy: Evidence of clinical utility and cost effectiveness
Palmer, EE
;
Schofield, D
;
Shrestha, R
;
Kandula, T
;
Macintosh, R
;
Lawson, JA
;
Andrews, I
;
Sampaio, H
;
Johnson, AM
;
Farrar, MA
;
Cardamone, M
;
Mowat, D
;
Elakis, G
;
Lo, W
;
Zhu, Y
;
Ying, K
;
Morris, P
;
Tao, J
;
Dias, KR
;
Buckley, M
;
Dinger, ME
;
Cowley, MJ
;
Roscioli, T
;
Kirk, EP
;
Bye, A
;
Sachdev, RK
2018-02-22
A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures
Gennarino, VA
;
Palmer, EE
;
McDonell, LM
;
Wang, L
;
Adamski, CJ
;
Koire, A
;
See, L
;
Chen, CA
;
Schaaf, CP
;
Rosenfeld, JA
;
Panzer, JA
;
Moog, U
;
Hao, S
;
Bye, A
;
Kirk, EP
;
Stankiewicz, P
;
Breman, AM
;
McBride, A
;
Kandula, T
;
Dubbs, HA
;
Macintosh, R
;
Cardamone, M
;
Zhu, Y
;
Ying, K
;
Dias, KR
;
Cho, MT
;
Henderson, LB
;
Baskin, B
;
Morris, P
;
Tao, J
;
Cowley, MJ
;
Dinger, ME
;
Roscioli, T
;
Caluseriu, O
;
Suchowersky, O
;
Sachdev, RK
;
Lichtarge, O
;
Tang, J
;
Boycott, KM
;
Holder, JL
;
Zoghbi, HY