Publications:

The genomic landscape of pediatric renal cell carcinomas.

Iscience

Beck, Pengbo P; Selle, Barbara B; Madenach, Lukas L; Jones, David T W DTW; Vokuhl, Christian C; Gopisetty, Apurva A; Nabbi, Arash A; Brecht, Ines B IB; Ebinger, Martin M; Wegert, Jenny J; Graf, Norbert N; Gessler, Manfred M; Pfister, Stefan M SM; Jäger, Natalie N

Publication Date: 2022-04-15

Variant appearance in text: VWF: R324Q

PubMed Link: 35445187

Variant Present in the following documents:

• mmc3.xlsx, sheet 1
• mmc4.xlsx, sheet 1

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Integrated molecular characterization reveals potential therapeutic strategies for pulmonary sarcomatoid carcinoma.

Nature Communications

Yang, Zhenlin Z; Xu, Jiachen J; Li, Lin L; Li, Renda R; Wang, Yalong Y; Tian, Yanhua Y; Guo, Wei W; Wang, Zhijie Z; Tan, Fengwei F; Ying, Jianming J; Jiao, Yuchen Y; Gao, Shugeng S; Wang, Jie J; Gao, Yibo Y; He, Jie J

Publication Date: 2020-09-28

Variant appearance in text: VWF: 971G>A; Arg324Gln

PubMed Link: 32985499

Variant Present in the following documents:

• 41467_2020_18702_MOESM5_ESM.xlsx, sheet 1

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A higher ctDNA fraction decreases survival in regorafenib-treated metastatic colorectal cancer patients. Results from the regorafenib's liquid biopsy translational biomarker phase II pilot study.

International Journal Of Cancer

Unseld, Matthias M; Belic, Jelena J; Pierer, Kerstin K; Zhou, Qing Q; Moser, Tina T; Bauer, Raimund R; Piringer, Gudrun G; Gerger, Armin A; Siebenhüner, Alexander A; Speicher, Michael M; Heitzer, Ellen E; Prager, Gerald W GW

Publication Date: 2021-03-15

Variant appearance in text: VWF: 971G>A; Arg324Gln

PubMed Link: 32949150

Variant Present in the following documents:

• IJC-148-1452-s003.xlsx, sheet 1

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Exome sequencing of a family with lone, autosomal dominant atrial flutter identifies a rare variation in ABCB4 significantly enriched in cases.

Bmc Genetics

Maciąg, Anna A; Villa, Francesco F; Ferrario, Anna A; Spinelli, Chiara Carmela CC; Carrizzo, Albino A; Malovini, Alberto A; Torella, Annalaura A; Montenero, Chiara C; Parisi, Attilio A; Condorelli, Gianluigi G; Vecchione, Carmine C; Nigro, Vincenzo V; Montenero, Annibale Sandro AS; Puca, Annibale Alessandro AA

Publication Date: 2015-02-11

Variant appearance in text: VWF: R324Q; rs61754001

PubMed Link: 25888430

Variant Present in the following documents:

• 12863_2015_177_MOESM1_ESM.xls, sheet 1

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Identification and characterisation of mutations associated with von Willebrand disease in a Turkish patient cohort.

Thrombosis And Haemostasis

Hampshire, Daniel J DJ; Abuzenadah, Adel M AM; Cartwright, Ashley A; Al-Shammari, Nawal S NS; Coyle, Rachael E RE; Eckert, Michaela M; Al-Buhairan, Ahlam M AM; Messenger, Sarah L SL; Budde, Ulrich U; Gürsel, Türkiz T; Ingerslev, Jørgen J; Peake, Ian R IR; Goodeve, Anne C AC

Publication Date: 2013-08

Variant appearance in text: VWF: 971G>A; R324Q

PubMed Link: 23702511

Variant Present in the following documents:

• Main text

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