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Issue Date
Title
Author(s)
2017
NAD deficiency, congenital malformations, and niacin supplementation
Shi, H.
;
Enriquez, A.
;
Rapadas, M.
;
Martin, E.
;
Wang, R.
;
Moreau, J.
;
Lim, C.
;
Szot, J.
;
Ip, E.
;
Hughes, J.
;
Sugimoto, K.
;
Humphreys, D.
;
McInerney-Leo, A.
;
Leo, P.
;
Maghzal, G.
;
Halliday, J.
;
Smith, J.
;
Colley, A.
;
Mark, P.
;
Collins, F.
;
et al.
2019
GJB2 and GJB6 mutations in hereditary recessive non-syndromic hearing impairment in Cameroon
Tingang Wonkam, E.
;
Chimusa, E.
;
Noubiap, J.J.
;
Adadey, S.M.
;
F Fokouo, J.V.
;
Wonkam, A.
2019
Alternative splicing in a presenilin 2 variant associated with Alzheimer disease
Braggin, J.E.
;
Bucks, S.A.
;
Course, M.M.
;
Smith, C.L.
;
Sopher, B.
;
Osnis, L.
;
Shuey, K.D.
;
Domoto-Reilly, K.
;
Caso, C.
;
Kinoshita, C.
;
Scherpelz, K.P.
;
Cross, C.
;
Grabowski, T.
;
Nik, S.H.M.
;
Newman, M.
;
Garden, G.A.
;
Leverenz, J.B.
;
Tsuang, D.
;
Latimer, C.
;
Gonzalez-Cuyar, L.F.
;
et al.
2011
A mutation in the Golgi Qb-SNARE gene GOSR2 causes progressive myoclonus epilepsy with early ataxia
Corbett, M.
;
Schwake, M.
;
Bahlo, M.
;
Dibbens, L.
;
Lin, M.
;
Gandolfo, L.
;
Vears, D.
;
O'Sullivan, J.
;
Robertson, T.
;
Bayly, M.
;
Gardner, A.
;
Vlaar, A.
;
Korenke, G.
;
Bloem, B.
;
de Coo, I.
;
Verhagen, J.
;
Lehesjoki, A.
;
Gecz, J.
;
Berkovic, S.
2010
A focal Eeilepsy and intellectual disability syndrome is due to a mutation in TBC1D24
Bahlo, M.
;
Jolly, L.
;
Afawi, Z.
;
Gardner, A.
;
Oliver, K.
;
Tan, S.
;
Coffey, A.
;
Mulley, J.
;
Dibbens, L.
;
Simri, W.
;
Shalata, A.
;
Kivity, S.
;
Jackson, G.
;
Berkovic, S.
;
Gecz, J.
;
Corbett, M.
2011
Tmprss3, a transmembrane serine protease deficient in human DFNB8/10 deafness, is critical for cochlear hair cell survival at the onset of hearing
Fasquelle, L.
;
Scott, H.
;
Lenoir, M.
;
Wang, J.
;
Rebillard, G.
;
Gaboyard, S.
;
Venteo, S.
;
Francois, F.
;
Masset-Bonnefont, A.
;
Antonarakis, S.
;
Neidhart, E.
;
Chabbert, C.
;
Puel, J.
;
Guipponi, M.
;
Delprat, B.
2013
Mutations in DEPDC5 cause familial focal epilepsy with variable foci
Dibbens, L.
;
de Vries, B.
;
Donatello, S.
;
Heron, S.
;
Hodgson, B.
;
Chintawar, S.
;
Crompton, D.
;
Hughes, J.
;
Bellows, S.
;
Klein, K.
;
Callenbach, P.
;
Corbett, M.
;
Gardner, A.
;
Kivity, S.
;
Iona, X.
;
Regan, B.
;
Weller, C.
;
Crimmins, D.
;
O'Brien, T.
;
Guerrero-Lopez, R.
;
et al.
2012
Dabrafenib in patients with melanoma, untreated brain metastases, and other solid tumours: a phase 1 dose-escalation trial
Falchook, G.
;
Long, G.
;
Kurzrock, R.
;
Kim, K.
;
Arkenau, T.
;
Brown, M.
;
Hamid, O.
;
Infante, J.
;
Millward, M.
;
Pavlick, A.
;
O'Day, S.
;
Blackman, S.
;
Curtis, C.
;
Lebowitz, P.
;
Ma, B.
;
Ouellet, D.
;
Kefford, R.
2011
Investigating the potential role of genetic and epigenetic variation of DNA methyltransferase genes in hyperplastic polyposis syndrome
Drini, M.
;
Wong, N.
;
Scott, H.
;
Craig, J.
;
Dobrovic, A.
;
Hewitt, C.
;
Dow, C.
;
Young, J.
;
Jenkins, M.
;
Saffery, R.
;
Macrae, F.
;
Oshima, R.
2017
Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases
Stessman, H.
;
Xiong, B.
;
Coe, B.
;
Wang, T.
;
Hoekzema, K.
;
Fenckova, M.
;
Kvarnung, M.
;
Gerdts, J.
;
Trinh, S.
;
Cosemans, N.
;
Vives, L.
;
Lin, J.
;
Turner, T.
;
Santen, G.
;
Ruivenkamp, C.
;
Kriek, M.
;
Van Haeringen, A.
;
Aten, E.
;
Friend, K.
;
Liebelt, J.
;
et al.
Discover
Author
4
et al.
3
Corbett, M.
3
Dibbens, L.
3
Gardner, A.
2
Bahlo, M.
2
Berkovic, S.
2
Gecz, J.
2
Hughes, J.
2
Kivity, S.
2
Scott, H.
.
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