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: TP53: 945T>G; Ser315=

PubMed Link: 36755093

Variant Present in the following documents:

• 41586_2022_5682_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

Small cell transformation of non-small cell lung cancer on immune checkpoint inhibitors: uncommon or under-recognized?

Journal For Immunotherapy Of Cancer

Sehgal, Kartik K; Varkaris, Andreas A; Viray, Hollis H; VanderLaan, Paul A PA; Rangachari, Deepa D; Costa, Daniel B DB

Publication Date: 2020-06

Variant appearance in text: TP53: S315S

PubMed Link: 32581048

Variant Present in the following documents:

• Main text
• jitc-2020-000697.pdf

View BVdb publication page

Small Cell Lung Cancer Transformation as a Mechanism of Resistance to PD-1 Therapy in KRAS-Mutant Lung Adenocarcinoma: A Report of Two Cases.

Journal Of Thoracic Oncology : Official Publication Of The International Association For The Study Of Lung Cancer

Iams, Wade T WT; Beckermann, Kathryn E KE; Almodovar, Karinna K; Hernandez, Jennifer J; Vnencak-Jones, Cindy C; Lim, Lee P LP; Raymond, Christopher K CK; Horn, Leora L; Lovly, Christine M CM

Publication Date: 2019-03

Variant appearance in text: TP53: S315S

PubMed Link: 30543839

Variant Present in the following documents:

• Main text

View BVdb publication page