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: RARA: 1384C>T

PubMed Link: 36755093

Variant Present in the following documents:

• 41586_2022_5682_MOESM7_ESM.xlsx, sheet 1

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CTCF DNA-binding domain undergoes dynamic and selective protein-protein interactions.

Iscience

Zhou, Rong R; Tian, Kai K; Huang, Jie J; Duan, Wenjia W; Fu, Hongye H; Feng, Ying Y; Wang, Hui H; Jiang, Yongpeng Y; Li, Yuanjun Y; Wang, Rui R; Hu, Jiazhi J; Ma, Hanhui H; Qi, Zhi Z; Ji, Xiong X

Publication Date: 2022-09-16

Variant appearance in text: RARA: 1384C>T

PubMed Link: 36117989

Variant Present in the following documents:

• mmc4.xlsx, sheet 1

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Circulating tumor DNA sequencing provides comprehensive mutation profiling for pediatric central nervous system tumors.

Npj Precision Oncology

Bonner, Erin R ER; Harrington, Robin R; Eze, Augustine A; Bornhorst, Miriam M; Kline, Cassie N CN; Gordish-Dressman, Heather H; Dawood, Adam A; Das, Biswajit B; Chen, Li L; Pauly, Rini R; Williams, P Mickey PM; Karlovich, Chris C; Peach, Amanda A; Howell, D'andra D; Doroshow, James J; Kilburn, Lindsay L; Packer, Roger J RJ; Mueller, Sabine S; Nazarian, Javad J

Publication Date: 2022-09-06

Variant appearance in text: RARA: 1384C>T

PubMed Link: 36068285

Variant Present in the following documents:

• 41698_2022_306_MOESM3_ESM.xlsx, sheet 3

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