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Issue Date
Title
Author(s)
2020
Definition and diagnosis of cerebral palsy in genetic studies: a systematic review
Pham, R.
;
Mol, B.W.
;
Gecz, J.
;
MacLennan, A.H.
;
MacLennan, S.C.
;
Corbett, M.A.
;
van Eyk, C.L.
;
Webber, D.L.
;
Palmer, L.J.
;
Berry, J.G.
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.
2019
Heterozygous loss of function of IQSEC2/Iqsec2 leads to increased activated Arf6 and severe neurocognitive seizure phenotype in females
Jackson, M.R.
;
Loring, K.E.
;
Homan, C.C.
;
Thai, H.N.
;
Määttänen, L.
;
Arvio, M.
;
Jarvela, I.
;
Shaw, M.
;
Gardner, A.
;
Gecz, J.
;
Shoubridge, C.
2019
A recurrent missense variant in SLC9A7 causes nonsyndromic X-linked intellectual disability with alteration of Golgi acidification and aberrant glycosylation
Khayat, W.
;
Hackett, A.
;
Shaw, M.
;
Ilie, A.
;
Dudding-Byth, T.
;
Kalscheuer, V.M.
;
Christie, L.
;
Corbett, M.A.
;
Juusola, J.
;
Friend, K.L.
;
Kirmse, B.M.
;
Gecz, J.
;
Field, M.
;
Orlowski, J.
2020
Disentangling the paradox of the PCDH19 clustering epilepsy, a disorder of cellular mosaics
Gecz, J.
;
Thomas, P.Q.
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.
2018
Common genetic variants contribute to risk of rare severe neurodevelopmental disorders
Niemi, M.E.K.
;
Martin, H.C.
;
Rice, D.L.
;
Gallone, G.
;
Gordon, S.
;
Kelemen, M.
;
McAloney, K.
;
McRae, J.
;
Radford, E.J.
;
Yu, S.
;
Gecz, J.
;
Martin, N.G.
;
Wright, C.F.
;
Fitzpatrick, D.R.
;
Firth, H.V.
;
Hurles, M.E.
;
Barrett, J.C.
2015
Novel IL1RAPL1 mutations associated with intellectual disability impair synaptogenesis
Ramos-Brossier, M.
;
Montani, C.
;
Lebrun, N.
;
Gritti, L.
;
Martin, C.
;
Seminatore-Nole, C.
;
Toussaint, A.
;
Moreno, S.
;
Poirier, K.
;
Dorseuil, O.
;
Chelly, J.
;
Hackett, A.
;
Gecz, J.
;
Bieth, E.
;
Faudet, A.
;
Heron, D.
;
Kooy, R.
;
Loeys, B.
;
Humeau, Y.
;
Sala, C.
;
et al.
2015
Copy number variants in patients with intellectual disability affect the regulation of ARX transcription factor gene
Ishibashi, M.
;
Manning, E.
;
Shoubridge, C.
;
Krecsmarik, M.
;
Hawkins, T.
;
Giacomotto, J.
;
Zhao, T.
;
Mueller, T.
;
Bader, P.
;
Cheung, S.
;
Stankiewicz, P.
;
Bain, N.
;
Hackett, A.
;
Reddy, C.
;
Mechaly, A.
;
Peers, B.
;
Wilson, S.
;
Lenhard, B.
;
Bally-Cuif, L.
;
Gecz, J.
;
et al.
Discover
Author
11
Corbett, M.
10
Jolly, L.
9
Haan, E.
8
et al.
8
Shoubridge, C.
7
Berkovic, S.
7
Gardner, A.
7
Hackett, A.
7
Nguyen, L.
7
Scheffer, I.
.
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Subject
44
Male
41
Female
27
Mutation
23
Intellectual Disability
22
Animals
19
Pedigree
16
Child
16
Mice
16
Phenotype
11
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2
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2016
7
2015
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2012
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