Publications:

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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: 794_916del; Leu265_Lys305del

PubMed Link: 36755093

Variant Present in the following documents:

• 41586_2022_5682_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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Somatic and Germline Genomic Alterations in Very Young Women with Breast Cancer.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research

Waks, Adrienne G AG; Kim, Dewey D; Jain, Esha E; Snow, Craig C; Kirkner, Gregory J GJ; Rosenberg, Shoshana M SM; Oh, Coyin C; Poorvu, Philip D PD; Ruddy, Kathryn J KJ; Tamimi, Rulla M RM; Peppercorn, Jeffrey J; Schapira, Lidia L; Borges, Virginia F VF; Come, Steven E SE; Brachtel, Elena F EF; Warner, Ellen E; Collins, Laura C LC; Partridge, Ann H AH; Wagle, Nikhil N

Publication Date: 2022-06-01

Variant appearance in text: p53: L265_K305del

PubMed Link: 35101884

Variant Present in the following documents:

• ccr-21-2572_supplementary_table_s1_supps1.xlsx, sheet 2

View BVdb publication page

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The landscape of driver mutations in cutaneous squamous cell carcinoma.

Npj Genomic Medicine

Chang, Darwin D; Shain, A Hunter AH

Publication Date: 2021-07-16

Variant appearance in text: TP53: L265_K305del

PubMed Link: 34272401

Variant Present in the following documents:

• 41525_2021_226_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Genome-wide DNA methylation profiling shows molecular heterogeneity of anaplastic pleomorphic xanthoastrocytoma.

Cancer Science

Nakamura, Taishi T; Fukuoka, Kohei K; Nakano, Yoshiko Y; Yamasaki, Kai K; Matsushita, Yuko Y; Yamashita, Satoshi S; Ikeda, Junji J; Udaka, Naoko N; Tanoshima, Reo R; Shiba, Norio N; Tateishi, Kensuke K; Yamanaka, Shoji S; Yamamoto, Tetsuya T; Hirato, Junko J; Ichimura, Koichi K

Publication Date: 2019-02

Variant appearance in text: TP53: 793_915del

PubMed Link: 30609203

Variant Present in the following documents:

• CAS-110-828-s011.xlsx, sheet 1

View BVdb publication page

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Characterizing temporal genomic heterogeneity in pediatric high-grade gliomas.

Acta Neuropathologica Communications

Salloum, Ralph R; McConechy, Melissa K MK; Mikael, Leonie G LG; Fuller, Christine C; Drissi, Rachid R; DeWire, Mariko M; Nikbakht, Hamid H; De Jay, Nicolas N; Yang, Xiaodan X; Boue, Daniel D; Chow, Lionel M L LML; Finlay, Jonathan L JL; Gayden, Tenzin T; Karamchandani, Jason J; Hummel, Trent R TR; Olshefski, Randal R; Osorio, Diana S DS; Stevenson, Charles C; Kleinman, Claudia L CL; Majewski, Jacek J; Fouladi, Maryam M; Jabado, Nada N

Publication Date: 2017-10-30

Variant appearance in text: p53: L265_K305del

PubMed Link: 29084603

Variant Present in the following documents:

• 40478_2017_479_MOESM2_ESM.xlsx, sheet 7

View BVdb publication page

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Integration of genomics and histology revises diagnosis and enables effective therapy of refractory cancer of unknown primary with PDL1 amplification.

Cold Spring Harbor Molecular Case Studies

Gröschel, Stefan S; Bommer, Martin M; Hutter, Barbara B; Budczies, Jan J; Bonekamp, David D; Heining, Christoph C; Horak, Peter P; Fröhlich, Martina M; Uhrig, Sebastian S; Hübschmann, Daniel D; Geörg, Christina C; Richter, Daniela D; Pfarr, Nicole N; Pfütze, Katrin K; Wolf, Stephan S; Schirmacher, Peter P; Jäger, Dirk D; von Kalle, Christof C; Brors, Benedikt B; Glimm, Hanno H; Weichert, Wilko W; Stenzinger, Albrecht A; Fröhling, Stefan S

Publication Date: 2016-11

Variant appearance in text: TP53: 793_915del

PubMed Link: 27900363

Variant Present in the following documents:

• supp_mcs.a001180_SuppTabS1.xls, sheet 2

View BVdb publication page

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Whole-exome sequencing of pancreatic cancer defines genetic diversity and therapeutic targets.

Nature Communications

Witkiewicz, Agnieszka K AK; McMillan, Elizabeth A EA; Balaji, Uthra U; Baek, GuemHee G; Lin, Wan-Chi WC; Mansour, John J; Mollaee, Mehri M; Wagner, Kay-Uwe KU; Koduru, Prasad P; Yopp, Adam A; Choti, Michael A MA; Yeo, Charles J CJ; McCue, Peter P; White, Michael A MA; Knudsen, Erik S ES

Publication Date: 2015-04-09

Variant appearance in text: p53: L265_K305del

PubMed Link: 25855536

Variant Present in the following documents:

• ncomms7744-s2.xlsx, sheet 1

View BVdb publication page

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ESR1 ligand-binding domain mutations in hormone-resistant breast cancer.

Nature Genetics

Toy, Weiyi W; Shen, Yang Y; Won, Helen H; Green, Bradley B; Sakr, Rita A RA; Will, Marie M; Li, Zhiqiang Z; Gala, Kinisha K; Fanning, Sean S; King, Tari A TA; Hudis, Clifford C; Chen, David D; Taran, Tetiana T; Hortobagyi, Gabriel G; Greene, Geoffrey G; Berger, Michael M; Baselga, José J; Chandarlapaty, Sarat S

Publication Date: 2013-12

Variant appearance in text: TP53: L265_K305del

PubMed Link: 24185512

Variant Present in the following documents:

• NIHMS531250-supplement-2.xlsx, sheet 1

View BVdb publication page

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