Multiomic neuropathology improves diagnostic accuracy in pediatric neuro-oncology.
Nature Medicine
Sturm, Dominik D; Capper, David D; Andreiuolo, Felipe F; Gessi, Marco M; Kölsche, Christian C; Reinhardt, Annekathrin A; Sievers, Philipp P; Wefers, Annika K AK; Ebrahimi, Azadeh A; Suwala, Abigail K AK; Gielen, Gerrit H GH; Sill, Martin M; Schrimpf, Daniel D; Stichel, Damian D; Hovestadt, Volker V; Daenekas, Bjarne B; Rode, Agata A; Hamelmann, Stefan S; Previti, Christopher C; Jäger, Natalie N; Buchhalter, Ivo I; Blattner-Johnson, Mirjam M; Jones, Barbara C BC; Warmuth-Metz, Monika M; Bison, Brigitte B; Grund, Kerstin K; Sutter, Christian C; Hirsch, Steffen S; Dikow, Nicola N; Hasselblatt, Martin M; Schüller, Ulrich U; Gerber, Nicolas U NU; White, Christine L CL; Buntine, Molly K MK; Kinross, Kathryn K; Algar, Elizabeth M EM; Hansford, Jordan R JR; Gottardo, Nicholas G NG; Hernáiz Driever, Pablo P; Gnekow, Astrid A; Witt, Olaf O; Müller, Hermann L HL; Calaminus, Gabriele G; Fleischhack, Gudrun G; Kordes, Uwe U; Mynarek, Martin M; Rutkowski, Stefan S; Frühwald, Michael C MC; Kramm, Christof M CM; von Deimling, Andreas A; Pietsch, Torsten T; Sahm, Felix F; Pfister, Stefan M SM; Jones, David T W DTW
GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects.
Journal Of Medical Genetics
Platzer, Konrad K; Yuan, Hongjie H; Schütz, Hannah H; Winschel, Alexander A; Chen, Wenjuan W; Hu, Chun C; Kusumoto, Hirofumi H; Heyne, Henrike O HO; Helbig, Katherine L KL; Tang, Sha S; Willing, Marcia C MC; Tinkle, Brad T BT; Adams, Darius J DJ; Depienne, Christel C; Keren, Boris B; Mignot, Cyril C; Frengen, Eirik E; Strømme, Petter P; Biskup, Saskia S; Döcker, Dennis D; Strom, Tim M TM; Mefford, Heather C HC; Myers, Candace T CT; Muir, Alison M AM; LaCroix, Amy A; Sadleir, Lynette L; Scheffer, Ingrid E IE; Brilstra, Eva E; van Haelst, Mieke M MM; van der Smagt, Jasper J JJ; Bok, Levinus A LA; Møller, Rikke S RS; Jensen, Uffe B UB; Millichap, John J JJ; Berg, Anne T AT; Goldberg, Ethan M EM; De Bie, Isabelle I; Fox, Stephanie S; Major, Philippe P; Jones, Julie R JR; Zackai, Elaine H EH; Abou Jamra, Rami R; Rolfs, Arndt A; Leventer, Richard J RJ; Lawson, John A JA; Roscioli, Tony T; Jansen, Floor E FE; Ranza, Emmanuelle E; Korff, Christian M CM; Lehesjoki, Anna-Elina AE; Courage, Carolina C; Linnankivi, Tarja T; Smith, Douglas R DR; Stanley, Christine C; Mintz, Mark M; McKnight, Dianalee D; Decker, Amy A; Tan, Wen-Hann WH; Tarnopolsky, Mark A MA; Brady, Lauren I LI; Wolff, Markus M; Dondit, Lutz L; Pedro, Helio F HF; Parisotto, Sarah E SE; Jones, Kelly L KL; Patel, Anup D AD; Franz, David N DN; Vanzo, Rena R; Marco, Elysa E; Ranells, Judith D JD; Di Donato, Nataliya N; Dobyns, William B WB; Laube, Bodo B; Traynelis, Stephen F SF; Lemke, Johannes R JR