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Issue Date
Title
Author(s)
2016
TBC1D24 genotype-phenotype correlation
Balestrini, S.
;
Milh, M.
;
Castiglioni, C.
;
Lüthy, K.
;
Finelli, M.
;
Verstreken, P.
;
Cardon, A.
;
Stražišar, B.
;
Holder, J.
;
Lesca, G.
;
Mancardi, M.
;
Poulat, A.
;
Repetto, G.
;
Banka, S.
;
Bilo, L.
;
Birkeland, L.
;
Bosch, F.
;
Brockmann, K.
;
Cross, J.
;
Doummar, D.
;
et al.
2017
ProBDNF Accelerates Brain Amyloid-β Deposition and Learning and Memory Impairment in APPswePS1dE9 Transgenic Mice
Chen, J.
;
Zhang, T.
;
Jiao, S.
;
Zhou, X.
;
Zhong, J.
;
Wang, Y.
;
Liu, J.
;
Deng, J.
;
Wang, S.
;
Xu, Z.
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.
2014
Sequencing of GJB2 in Cameroonians and Black South Africans and comparison to 1000 Genomes Project Data Support Need to Revise Strategy for Discovery of Nonsyndromic Deafness Genes in Africans
Bosch, J.
;
Noubiap, J.J.N.
;
Dandara, C.
;
Makubalo, N.
;
Wright, G.
;
Entfellner, J.-B.D.
;
Tiffin, N.
;
Wonkam, A.
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
Bi-allelic loss-of-function CACNA1B mutations in progressive epilepsy-dyskinesia
Gorman, K.M.
;
Meyer, E.
;
Grozeva, D.
;
Spinelli, E.
;
McTague, A.
;
Sanchis-Juan, A.
;
Carss, K.J.
;
Bryant, E.
;
Reich, A.
;
Schneider, A.L.
;
Pressler, R.M.
;
Simpson, M.A.
;
Debelle, G.D.
;
Wassmer, E.
;
Morton, J.
;
Sieciechowicz, D.
;
Jan-Kamsteeg, E.
;
Paciorkowski, A.R.
;
King, M.D.
;
Cross, J.H.
;
et al.
2017
Epiregulin and EGFR interactions are involved in pain processing
Martin, L.J.
;
Smith, S.B.
;
Khoutorsky, A.
;
Magnussen, C.A.
;
Samoshkin, A.
;
Sorge, R.E.
;
Cho, C.
;
Yosefpour, N.
;
Sivaselvachandran, S.
;
Tohyama, S.
;
Cole, T.
;
Khuong, T.M.
;
Mir, E.
;
Gibson, D.G.
;
Wieskopf, J.S.
;
Sotocinal, S.G.
;
Austin, J.S.
;
Meloto, C.B.
;
Gitt, J.H.
;
Gkogkas, C.
;
et al.
2014
Inactivating mutations in NPC1L1 and protection from coronary heart disease
Stitziel, N.O.
;
Won, H.H.
;
Morrison, A.C.
;
Peloso, G.M.
;
Do, R.
;
Lange, L.A.
;
Fontanillas, P.
;
Gupta, N.
;
Duga, S.
;
Goel, A.
;
Farrall, M.
;
Saleheen, D.
;
Ferrario, P.
;
König, I.
;
Asselta, R.
;
Merlini, P.A.
;
Marziliano, N.
;
Notarangelo, M.F.
;
Schick, U.
;
Auer, P.
;
et al.
2019
Chromosomal abnormalities and prognosis in NPM1-mutated acute myeloid leukemia: a pooled analysis of individual patient data from nine international cohorts
Angenendt, L.
;
Röllig, C.
;
Montesinos, P.
;
Martínez-Cuadrón, D.
;
Barragan, E.
;
García, R.
;
Botella, C.
;
Martínez, P.
;
Ravandi, F.
;
Kadia, T.
;
Kantarjian, H.M.
;
Cortes, J.
;
Juliusson, G.
;
Lazarevic, V.
;
Höglund, M.
;
Lehmann, S.
;
Recher, C.
;
Pigneux, A.
;
Bertoli, S.
;
Dumas, P.Y.
;
et al.
2019
Myocilin gene Gln368Ter variant penetrance and association with glaucoma in population-based and registry-based studies
Han, X.
;
Souzeau, E.
;
Ong, J.S.
;
An, J.
;
Siggs, O.M.
;
Burdon, K.P.
;
Best, S.
;
Goldberg, I.
;
Healey, P.R.
;
Graham, S.L.
;
Ruddle, J.B.
;
Mills, R.A.
;
Landers, J.
;
Galanopoulos, A.
;
White, A.J.R.
;
Casson, R.
;
Mackey, D.A.
;
Hewitt, A.W.
;
Gharahkhani, P.
;
Craig, J.E.
;
et al.
Discover
Author
34
et al.
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Gecz, J.
7
Berkovic, S.
7
Dibbens, L.
7
Gardner, A.
7
Haan, E.
7
Jolly, L.
7
Scheffer, I.
6
Price, T.
6
Scott, H.
.
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