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Issue Date
Title
Author(s)
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.
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
Genomic subtyping and therapeutic targeting of acute erythroleukemia
Iacobucci, I.
;
Wen, J.
;
Meggendorfer, M.
;
Choi, J.K.
;
Shi, L.
;
Pounds, S.B.
;
Carmichael, C.L.
;
Masih, K.E.
;
Morris, S.M.
;
Lindsley, R.C.
;
Janke, L.J.
;
Alexander, T.B.
;
Song, G.
;
Qu, C.
;
Li, Y.
;
Payne-Turner, D.
;
Tomizawa, D.
;
Kiyokawa, N.
;
Valentine, M.
;
Valentine, V.
;
et al.
2021
Clonal evolution and clinical implications of genetic abnormalities in blastic transformation of chronic myeloid leukaemia
Ochi, Y.
;
Yoshida, K.
;
Huang, Y.-J.
;
Kuo, M.-C.
;
Nannya, Y.
;
Sasaki, K.
;
Mitani, K.
;
Hosoya, N.
;
Hiramoto, N.
;
Ishikawa, T.
;
Branford, S.
;
Shanmuganathan, N.
;
Ohyashiki, K.
;
Takahashi, N.
;
Takaku, T.
;
Tsuchiya, S.
;
Kanemura, N.
;
Nakamura, N.
;
Ueda, Y.
;
Yoshihara, S.
;
et al.
2021
PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families
Guimier, A.
;
Achleitner, M.T.
;
Moreau de Bellaing, A.
;
Edwards, M.
;
de Pontual, L.
;
Mittal, K.
;
Dunn, K.E.
;
Grove, M.E.
;
Tysoe, C.J.
;
Dimartino, C.
;
Cameron, J.
;
Kanthi, A.
;
Shukla, A.
;
van den Broek, F.
;
Chatterjee, D.
;
Alston, C.L.
;
Knowles, C.V.
;
Brett, L.
;
Till, J.A.
;
Homfray, T.
;
et al.
2020
Whole genome, transcriptome and methylome profiling enhances actionable target discovery in high-risk pediatric cancer
Wong, M.
;
Mayoh, C.
;
Lau, L.M.S.
;
Khuong-Quang, D.-A.
;
Pinese, M.
;
Kumar, A.
;
Barahona, P.
;
Wilkie, E.E.
;
Sullivan, P.
;
Bowen-James, R.
;
Syed, M.
;
Martincorena, I.
;
Abascal, F.
;
Sherstyuk, A.
;
Bolanos, N.A.
;
Baber, J.
;
Priestley, P.
;
Dolman, M.E.M.
;
Fleuren, E.D.G.
;
Gauthier, M.-E.
;
et al.
2022
Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants
Bournazos, A.M.
;
Riley, L.G.
;
Bommireddipalli, S.
;
Ades, L.
;
Akesson, L.S.
;
Al-Shinnag, M.
;
Alexander, S.I.
;
Archibald, A.D.
;
Balasubramaniam, S.
;
Berman, Y.
;
Beshay, V.
;
Boggs, K.
;
Bojadzieva, J.
;
Brown, N.J.
;
Bryen, S.J.
;
Buckley, M.F.
;
Chong, B.
;
Davis, M.R.
;
Dawes, R.
;
Delatycki, M.
;
et al.
2019
A combined immunodeficiency with severe infections, inflammation, and allergy caused by ARPC1B deficiency
Volpi, S.
;
Cicalese, M.P.
;
Tuijnenburg, P.
;
Tool, A.T.J.
;
Cuadrado, E.
;
Abu-Halaweh, M.
;
Ahanchian, H.
;
Alzyoud, R.
;
Akdemir, Z.C.
;
Barzaghi, F.
;
Blank, A.
;
Boisson, B.
;
Bottino, C.
;
Brigida, I.
;
Caorsi, R.
;
Casanova, J.L.
;
Chiesa, S.
;
Chinn, I.K.
;
Dückers, G.
;
Enders, A.
;
et al.
2016
Integration of genetic and clinical risk factors improves prognostication in relapsed childhood B-cell precursor acute lymphoblastic leukemia
Irving, J.
;
Enshaei, A.
;
Parker, C.
;
Sutton, R.
;
Kuiper, R.
;
Erhorn, A.
;
Minto, L.
;
Venn, N.
;
Law, T.
;
Yu, J.
;
Schwab, C.
;
Davies, R.
;
Matheson, E.
;
Davies, A.
;
Sonneveld, E.
;
Den Boer, M.
;
Love, S.
;
Harrison, C.
;
Hoogerbrugge, P.
;
Revesz, T.
;
et al.
2017
Adults with Philadelphia chromosome-like acute lymphoblastic leukemia frequently have IGH-CRLF2 and JAK2 mutations, persistence of minimal residual disease and poor prognosis
Herold, T.
;
Schneider, S.
;
Metzeler, K.
;
Neumann, M.
;
Hartmann, L.
;
Roberts, K.
;
Konstandin, N.
;
Greif, P.
;
Braeundl, K.
;
Ksienzyk, B.
;
Huk, N.
;
Schneider, I.
;
Zellmeier, E.
;
Jurinovic, V.
;
Mansmann, U.
;
Hiddemann, W.
;
Mullighan, C.
;
Bohlander, S.
;
Spiekermann, K.
;
Hoelzer, D.
;
et al.
Discover
Author
1
Abascal, F.
1
Abu-Halaweh, M.
1
Achleitner, M.T.
1
Ades, L.
1
Ahanchian, H.
1
Akdemir, Z.C.
1
Akesson, L.S.
1
Al-Shinnag, M.
1
Alexander, S.I.
1
Alexander, T.B.
.
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