Publications:

Aberrant phase separation and nucleolar dysfunction in rare genetic diseases.

Nature

Mensah, Martin A MA; Niskanen, Henri H; Magalhaes, Alexandre P AP; Basu, Shaon S; Kircher, Martin M; Sczakiel, Henrike L HL; Reiter, Alisa M V AMV; Elsner, Jonas J; Meinecke, Peter P; Biskup, Saskia S; Chung, Brian H Y BHY; Dombrowsky, Gregor G; Eckmann-Scholz, Christel C; Hitz, Marc Phillip MP; Hoischen, Alexander A; Holterhus, Paul-Martin PM; Hülsemann, Wiebke W; Kahrizi, Kimia K; Kalscheuer, Vera M VM; Kan, Anita A; Krumbiegel, Mandy M; Kurth, Ingo I; Leubner, Jonas J; Longardt, Ann Carolin AC; Moritz, Jörg D JD; Najmabadi, Hossein H; Skipalova, Karolina K; Snijders Blok, Lot L; Tzschach, Andreas A; Wiedersberg, Eberhard E; Zenker, Martin M; Garcia-Cabau, Carla C; Buschow, René R; Salvatella, Xavier X; Kraushar, Matthew L ML; Mundlos, Stefan S; Caliebe, Almuth A; Spielmann, Malte M; Horn, Denise D; Hnisz, Denes D

Publication Date: 2023-02-08

Variant appearance in text: ARID1A: 4563del

PubMed Link: 36755093

Variant Present in the following documents:

• 41586_2022_5682_MOESM7_ESM.xlsx, sheet 1

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Redefine Hyperprogressive Disease During Treatment With Immune-Checkpoint Inhibitors in Patients With Gastrointestinal Cancer.

Frontiers In Oncology

Wang, Zhenghang Z; Liu, Chang C; Bai, Yuezong Y; Zhao, Xiaochen X; Cui, Longgang L; Peng, Zhi Z; Zhang, Xiaotian X; Wang, Xicheng X; Zhao, Zhengyi Z; Li, Jian J; Shen, Lin L

Publication Date: 2021

Variant appearance in text: ARID1A: 4563del; A1522Pfs*5

PubMed Link: 34858840

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

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A model combining clinical and genomic factors to predict response to PD-1/PD-L1 blockade in advanced urothelial carcinoma.

British Journal Of Cancer

Nassar, Amin H AH; Mouw, Kent W KW; Jegede, Opeyemi O; Shinagare, Atul B AB; Kim, Jaegil J; Liu, Chia-Jen CJ; Pomerantz, Mark M; Harshman, Lauren C LC; Van Allen, Eliezer M EM; Wei, Xiao X XX; McGregor, Bradley B; Choudhury, Atish D AD; Preston, Mark A MA; Dong, Fei F; Signoretti, Sabina S; Lindeman, Neal I NI; Bellmunt, Joaquim J; Choueiri, Toni K TK; Sonpavde, Guru G; Kwiatkowski, David J DJ

Publication Date: 2020-02

Variant appearance in text: ARID1A: 4560delC; A1522Pfs*5

PubMed Link: 31857723

Variant Present in the following documents:

• 41416_2019_686_MOESM1_ESM.xlsx, sheet 5
• 41416_2019_686_MOESM1_ESM.xlsx, sheet 4

View BVdb publication page