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Issue Date
Title
Author(s)
2020
A synonymous UPF3B variant causing a speech disorder implicates NMD as a regulator of neurodevelopmental disorder gene networks
Domingo, D.
;
Nawaz, U.
;
Corbett, M.
;
Espinoza, J.L.
;
Tatton-Brown, K.
;
Coman, D.
;
Wilkinson, M.F.
;
Gecz, J.
;
Jolly, L.A.
2021
Association of SLC32A1 missense variants with genetic epilepsy with febrile seizures plus
Heron, S.E.
;
Regan, B.M.
;
Harris, R.V.
;
Gardner, A.E.
;
Coleman, M.J.
;
Bennett, M.F.
;
Grinton, B.E.
;
Helbig, K.L.
;
Sperling, M.R.
;
Haut, S.
;
Geller, E.B.
;
Widdess-Walsh, P.
;
Pelekanos, J.T.
;
Bahlo, M.
;
Petrovski, S.
;
Heinzen, E.L.
;
Hildebrand, M.S.
;
Corbett, M.A.
;
Scheffer, I.E.
;
Gecz, J.
;
et al.
2021
A 127 kb truncating deletion of PGRMC1 is a novel cause of X-linked isolated paediatric cataract
Jones, J.L.
;
Corbett, M.A.
;
Yeaman, E.
;
Zhao, D.
;
Gecz, J.
;
Gasperini, R.J.
;
Charlesworth, J.C.
;
Mackey, D.A.
;
Elder, J.E.
;
Craig, J.E.
;
Burdon, K.P.
2020
A standardized patient-centered characterization of the phenotypic spectrum of PCDH19 girls clustering epilepsy
Kolc, K.L.
;
Sadleir, L.G.
;
Depienne, C.
;
Marini, C.
;
Scheffer, I.E.
;
Møller, R.S.
;
Trivisano, M.
;
Specchio, N.
;
Pham, D.
;
Kumar, R.
;
Roberts, R.
;
Gecz, J.
2020
Familial adult myoclonic epilepsy type 1 SAMD12 TTTCA repeat expansion arose 17,000 years ago and is present in Sri Lankan and Indian families
Bennett, M.F.
;
Oliver, K.L.
;
Regan, B.M.
;
Bellows, S.T.
;
Schneider, A.L.
;
Rafehi, H.
;
Sikta, N.
;
Crompton, D.E.
;
Coleman, M.
;
Hildebrand, M.S.
;
Corbett, M.A.
;
Kroes, T.
;
Gecz, J.
;
Scheffer, I.E.
;
Berkovic, S.F.
;
Bahlo, M.
Discover
Author
3
Corbett, M.A.
3
Scheffer, I.E.
2
Bahlo, M.
2
Bennett, M.F.
2
Hildebrand, M.S.
2
Regan, B.M.
1
Bellows, S.T.
1
Berkovic, S.F.
1
Burdon, K.P.
1
Charlesworth, J.C.
.
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Subject
5
Humans
3
Female
3
Pedigree
1
Adolescent
1
Animals
1
Autism Spectrum Disorder
1
Cadherins
1
Cataract
1
Cell Line
1
Child
.
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Date issued
2
2021
3
2020