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Issue Date
Title
Author(s)
2019
Disruptive variants of CSDE1 associate with autism and interfere with neuronal development and synaptic transmission
Guo, H.
;
Li, Y.
;
Shen, L.
;
Wang, T.
;
Jia, X.
;
Liu, L.
;
Xu, T.
;
Ou, M.
;
Hoekzema, K.
;
Wu, H.
;
Gillentine, M.A.
;
Liu, C.
;
Ni, H.
;
Peng, P.
;
Zhao, R.
;
Zhang, Y.
;
Phornphutkul, C.
;
Stegmann, A.P.A.
;
Prada, C.E.
;
Hopkin, R.J.
;
et al.
2021
Implementing gene curation for hereditary cancer susceptibility in Australia: achieving consensus on genes with clinical utility
Tudini, E.
;
Davidson, A.L.
;
Dressel, U.
;
Andrews, L.
;
Antill, Y.
;
Crook, A.
;
Field, M.
;
Gattas, M.
;
Harris, R.
;
Kirk, J.
;
Pachter, N.
;
Salmon, L.
;
Susman, R.
;
Townshend, S.
;
Trainer, A.H.
;
Tucker, K.M.
;
Mitchell, G.
;
James, P.A.
;
Ward, R.L.
;
Mar Fan, H.
;
et al.
2016
Novel germ line DDX41 mutations define families with a lower age of MDS/AML onset and lymphoid malignancies
Lewinsohn, M.
;
Brown, A.L.
;
Weinel, L.M.
;
Phung, C.
;
Rafidi, G.
;
Lee, M.K.
;
Schreiber, A.W.
;
Feng, J.
;
Babic, M.
;
Chong, C.E.
;
Lee, Y.
;
Yong, A.
;
Suthers, G.K.
;
Poplawski, N.
;
Altree, M.
;
Phillips, K.
;
Jaensch, L.
;
Fine, M.
;
D'Andrea, R.J.
;
Lewis, I.D.
;
et al.
2015
Single nucleotide variations in CLCN6 identified in patients with benign partial epilepsies in infancy and/or febrile seizures
Yamamoto, T.
;
Shimojima, K.
;
Sangu, N.
;
Komoike, Y.
;
Ishii, A.
;
Abe, S.
;
Yamashita, S.
;
Imai, K.
;
Kubota, T.
;
Fukasawa, T.
;
Okanishi, T.
;
Enoki, H.
;
Tanabe, T.
;
Saito, A.
;
Furukawa, T.
;
Shimizu, T.
;
Milligan, C.
;
Petrou, S.
;
Heron, S.
;
Dibbens, L.
;
et al.
;
Ishii, R.
2021
Variation in the risk of colorectal cancer in families with Lynch syndrome: a retrospective cohort study
Win, A.K.
;
Dowty, J.G.
;
Reece, J.C.
;
Lee, G.
;
Templeton, A.S.
;
Plazzer, J.P.
;
Buchanan, D.D.
;
Akagi, K.
;
Aksoy, S.
;
Alonso, A.
;
Alvarez, K.
;
Amor, D.J.
;
Ankathil, R.
;
Aretz, S.
;
Arnold, J.L.
;
Aronson, M.
;
Austin, R.
;
Backman, A.S.
;
Bajwa-ten Broeke, S.W.
;
Barca-Tierno, V.
;
et al.
2014
Nonsense mutations in the shelterin complex genes ACD and TERF2IP in familial melanoma
Aoude, L.
;
Pritchard, A.
;
Robles-Espinoza, C.
;
Wadt, K.
;
Harland, M.
;
Choi, J.
;
Gartside, M.
;
Quesada, V.
;
Johansson, P.
;
Palmer, J.
;
Ramsay, A.
;
Zhang, X.
;
Jones, K.
;
Symmons, J.
;
Holland, E.
;
Schmid, H.
;
Bonazzi, V.
;
Woods, S.
;
Dutton-Regester, K.
;
Stark, M.
;
et al.
2016
Multiplex families with epilepsy: success of clinical and molecular genetic characterization
Afawi, Z.
;
Oliver, K.L.
;
Kivity, S.
;
Mazarib, A.
;
Blatt, I.
;
Neufeld, M.Y.
;
Helbig, K.L.
;
Goldberg-Stern, H.
;
Misk, A.J.
;
Straussberg, R.
;
Walid, S.
;
Mahajnah, M.
;
Lerman-Sagie, T.
;
Ben-Zeev, B.
;
Kahana, E.
;
Masalha, R.
;
Kramer, U.
;
Ekstein, D.
;
Shorer, Z.
;
Wallace, R.H.
;
et al.
2011
Heritable GATA2 mutations associated with familial myelodysplastic syndrome and acute myeloid leukemia
Hahn, C.
;
Chong, C.
;
Carmichael, C.
;
Wilkins, E.
;
Brautigan, P.
;
Li, X.
;
Babic, M.
;
Lin, M.
;
Carmagnac, A.
;
Lee, Y.
;
Kok, C.
;
Gagliardi, L.
;
Friend, K.
;
Ekert, P.
;
Butcher, C.
;
Brown, A.
;
Lewis, I.
;
To, L.
;
Timms, A.
;
Storek, J.
;
et al.
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.
2002
Mutations in PHF6 are associated with Börjeson-Forssman-Lehmann syndrome
Lower, K.
;
Turner, G.
;
Kerr, B.
;
Mathews, K.
;
Shaw, M.
;
Gedeon, A.
;
Schelley, S.
;
Hoyme, H.
;
White, S.
;
Delatycki, M.
;
Lampe, A.
;
Clayton-Smith, J.
;
Stewart, H.
;
van Ravenswaay, C.
;
de Vries, B.
;
Cox, B.
;
Grompe, M.
;
Ross, S.
;
Thomas, P.
;
Mulley, J.
;
et al.
Discover
Author
2
Babic, M.
2
de Vries, B.
2
Dibbens, L.
2
Heron, S.
2
Kivity, S.
2
Lee, Y.
1
Abe, S.
1
Afawi, Z.
1
Akagi, K.
1
Aksoy, S.
.
next >
Subject
10
Female
10
Humans
4
Animals
4
Middle Aged
3
Adult
3
Amino Acid Sequence
3
Genetic Association Studies
3
Germ-Line Mutation
3
Mice
3
Molecular Sequence Data
.
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Date issued
2
2020 - 2021
7
2010 - 2019
1
2002 - 2009