Publications:

Assessing computational predictions of the phenotypic effect of cystathionine-beta-synthase variants.

Human Mutation

Kasak, Laura L; Bakolitsa, Constantina C; Hu, Zhiqiang Z; Yu, Changhua C; Rine, Jasper J; Dimster-Denk, Dago F DF; Pandey, Gaurav G; De Baets, Greet G; Bromberg, Yana Y; Cao, Chen C; Capriotti, Emidio E; Casadio, Rita R; Van Durme, Joost J; Giollo, Manuel M; Karchin, Rachel R; Katsonis, Panagiotis P; Leonardi, Emanuela E; Lichtarge, Olivier O; Martelli, Pier Luigi PL; Masica, David D; Mooney, Sean D SD; Olatubosun, Ayodeji A; Radivojac, Predrag P; Rousseau, Frederic F; Pal, Lipika R LR; Savojardo, Castrense C; Schymkowitz, Joost J; Thusberg, Janita J; Tosatto, Silvio C E SCE; Vihinen, Mauno M; Väliaho, Jouni J; Repo, Susanna S; Moult, John J; Brenner, Steven E SE; Friedberg, Iddo I

Publication Date: 2019-09

Variant appearance in text: CBS: 1106G>C; R369P

PubMed Link: 31301157

Variant Present in the following documents:

• Main text

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Genetic variation affecting DNA methylation and the human imprinting disorder, Beckwith-Wiedemann syndrome.

Clinical Epigenetics

Dagar, Vinod V; Hutchison, Wendy W; Muscat, Andrea A; Krishnan, Anita A; Hoke, David D; Buckle, Ashley A; Siswara, Priscillia P; Amor, David J DJ; Mann, Jeffrey J; Pinner, Jason J; Colley, Alison A; Wilson, Meredith M; Sachdev, Rani R; McGillivray, George G; Edwards, Matthew M; Kirk, Edwin E; Collins, Felicity F; Jones, Kristi K; Taylor, Juliet J; Hayes, Ian I; Thompson, Elizabeth E; Barnett, Christopher C; Haan, Eric E; Freckmann, Mary-Louise ML; Turner, Anne A; White, Susan S; Kamien, Ben B; Ma, Alan A; Mackenzie, Fiona F; Baynam, Gareth G; Kiraly-Borri, Cathy C; Field, Michael M; Dudding-Byth, Tracey T; Algar, Elizabeth M EM

Publication Date: 2018-08-30

Variant appearance in text: CBS: Arg369Pro

PubMed Link: 30165906

Variant Present in the following documents:

• Main text
• 13148_2018_Article_546.pdf

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Actionable perturbations of damage responses by TCL1/ATM and epigenetic lesions form the basis of T-PLL.

Nature Communications

Schrader, A A; Crispatzu, G G; Oberbeck, S S; Mayer, P P; Pützer, S S; von Jan, J J; Vasyutina, E E; Warner, K K; Weit, N N; Pflug, N N; Braun, T T; Andersson, E I EI; Yadav, B B; Riabinska, A A; Maurer, B B; Ventura Ferreira, M S MS; Beier, F F; Altmüller, J J; Lanasa, M M; Herling, C D CD; Haferlach, T T; Stilgenbauer, S S; Hopfinger, G G; Peifer, M M; Brümmendorf, T H TH; Nürnberg, P P; Elenitoba-Johnson, K S J KSJ; Zha, S S; Hallek, M M; Moriggl, R R; Reinhardt, H C HC; Stern, M-H MH; Mustjoki, S S; Newrzela, S S; Frommolt, P P; Herling, M M

Publication Date: 2018-02-15

Variant appearance in text: rs11700812

PubMed Link: 29449575

Variant Present in the following documents:

• 41467_2017_2688_MOESM14_ESM.xls, sheet 3

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