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Issue Date
Title
Author(s)
2017
YY1 haploinsufficiency causes an intellectual disability syndrome featuring transcriptional and chromatin dysfunction
Gabriele, M.
;
Vulto-van Silfhout, A.
;
Germain, P.
;
Vitriolo, A.
;
Kumar, R.
;
Douglas, E.
;
Haan, E.
;
Kosaki, K.
;
Takenouchi, T.
;
Rauch, A.
;
Steindl, K.
;
Frengen, E.
;
Misceo, D.
;
Pedurupillay, C.
;
Stromme, P.
;
Rosenfeld, J.
;
Shao, Y.
;
Craigen, W.
;
Schaaf, C.
;
Rodriguez-Buritica, D.
;
et al.
2017
Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains
Geisheker, M.
;
Heymann, G.
;
Wang, T.
;
Coe, B.
;
Turner, T.
;
Stessman, H.
;
Hoekzema, K.
;
Kvarnung, M.
;
Shaw, M.
;
Friend, K.
;
Liebelt, J.
;
Barnett, C.
;
Thompson, E.
;
Haan, E.
;
Guo, H.
;
Anderlid, B.
;
Nordgren, A.
;
Lindstrand, A.
;
Vandeweyer, G.
;
Alberti, A.
;
et al.
2017
Discovery and functional prioritization of Parkinson's disease candidate genes from large-scale whole exome sequencing
Jansen, I.E.
;
Ye, H.
;
Heetveld, S.
;
Lechler, M.C.
;
Michels, H.
;
Seinstra, R.I.
;
Lubbe, S.J.
;
Drouet, V.
;
Lesage, S.
;
Majounie, E.
;
Gibbs, J.R.
;
Nalls, M.A.
;
Ryten, M.
;
Botia, J.A.
;
Vandrovcova, J.
;
Simon-Sanchez, J.
;
Castillo-Lizardo, M.
;
Rizzu, P.
;
Blauwendraat, C.
;
Chouhan, A.K.
;
et al.
2017
The Stone Age plague and its persistence in Eurasia
Andrades Valtueña, A.
;
Mittnik, A.
;
Key, F.
;
Haak, W.
;
Allmäe, R.
;
Belinskij, A.
;
Daubaras, M.
;
Feldman, M.
;
Jankauskas, R.
;
Janković, I.
;
Massy, K.
;
Novak, M.
;
Pfrengle, S.
;
Reinhold, S.
;
Šlaus, M.
;
Spyrou, M.
;
Szécsényi-Nagy, A.
;
Tõrv, M.
;
Hansen, S.
;
Bos, K.
;
et al.
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.
2017
A recurrent de novo nonsense variant in ZSWIM6 results in severe intellectual disability without frontonasal or limb malformations
Palmer, E.E.
;
Kumar, R.
;
Gordon, C.T.
;
Shaw, M.
;
Hubert, L.
;
Carroll, R.
;
Rio, M.
;
Murray, L.
;
Leffler, M.
;
Dudding-Byth, T.
;
Oufadem, M.
;
Lalani, S.R.
;
Lewis, A.M.
;
Xia, F.
;
Tam, A.
;
Webster, R.
;
Brammah, S.
;
Filippini, F.
;
Pollard, J.
;
Spies, J.
;
et al.
2017
Neanderthal behaviour, diet, and disease inferred from ancient DNA in dental calculus
Weyrich, L.
;
Duchene, S.
;
Soubrier, J.
;
Arriola, L.
;
Llamas, B.
;
Breen, J.
;
Morris, A.
;
Alt, K.
;
Caramelli, D.
;
Dresely, V.
;
Farrell, M.
;
Farrer, A.
;
Francken, M.
;
Gully, N.
;
Haak, W.
;
Hardy, K.
;
Harvati, K.
;
Held, P.
;
Holmes, E.
;
Kaidonis, J.
;
et al.
2017
Lost in translation: returning germline genetic results in genome-scale cancer research
Johns, A.
;
McKay, S.
;
Humphris, J.
;
Pinese, M.
;
Chantrill, L.
;
Mead, R.
;
Tucker, K.
;
Andrews, L.
;
Goodwin, A.
;
Leonard, C.
;
High, H.
;
Nones, K.
;
Waddell, N.
;
Patch, A.
;
Merrett, N.
;
Pavlakis, N.
;
Kassahn, K.
;
Samra, J.
;
Miller, D.
;
Chang, D.
;
et al.
Discover
Author
2
Coe, B.
2
Friend, K.
2
Haak, W.
2
Haan, E.
2
Hoekzema, K.
2
Kumar, R.
2
Kvarnung, M.
2
Liebelt, J.
2
Shaw, M.
2
Stessman, H.
.
next >
Subject
3
Humans
2
Autistic Disorder
2
Exome
2
Female
2
Genetic Predisposition to Disease
2
Male
1
Adolescent
1
Adult
1
alpha-Synuclein
1
Amino Acid Sequence
.
next >