Publications:

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

Publication Date: 2023-03-16

Variant appearance in text: RB1: 717dupT

PubMed Link: 36928815

Variant Present in the following documents:

• 41591_2023_2255_MOESM3_ESM.xlsx, sheet 5

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Molecular classification of a complex structural rearrangement of the RB1 locus in an infant with sporadic, isolated, intracranial, sellar region retinoblastoma.

Acta Neuropathologica Communications

Schieffer, Kathleen M KM; Feldman, Alexander Z AZ; Kautto, Esko A EA; McGrath, Sean S; Miller, Anthony R AR; Hernandez-Gonzalez, Maria Elena ME; LaHaye, Stephanie S; Miller, Katherine E KE; Koboldt, Daniel C DC; Brennan, Patrick P; Kelly, Benjamin B; Wetzel, Amy A; Agarwal, Vibhuti V; Shatara, Margaret M; Conley, Suzanne S; Rodriguez, Diana P DP; Abu-Arja, Rolla R; Shaikhkhalil, Ala A; Snuderl, Matija M; Orr, Brent A BA; Finlay, Jonathan L JL; Osorio, Diana S DS; Drapeau, Annie I AI; Leonard, Jeffrey R JR; Pierson, Christopher R CR; White, Peter P; Magrini, Vincent V; Mardis, Elaine R ER; Wilson, Richard K RK; Cottrell, Catherine E CE; Boué, Daniel R DR

Publication Date: 2021-04-07

Variant appearance in text: RB1: 717dup

PubMed Link: 33827698

Variant Present in the following documents:

• Main text
• 40478_2021_Article_1164.pdf

View BVdb publication page