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: RNF43: 1556G>A; Arg519Gln; rs200166143

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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Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics

Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,

Publication Date: 2022-12-01

Variant appearance in text: RNF43: R519Q; rs200166143

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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Clinical utility of comprehensive genomic profiling in Japan: Result of PROFILE-F study.

Plos One

Aoyagi, Yasuko Y; Kano, Yoshihito Y; Tohyama, Kohki K; Matsudera, Shotaro S; Kumaki, Yuichi Y; Takahashi, Kenta K; Mitsumura, Takahiro T; Harada, Yohei Y; Sato, Akemi A; Nakamura, Hideaki H; Sueoka, Eisaburo E; Aragane, Naoko N; Kimura, Koichiro K; Onishi, Iichiro I; Takemoto, Akira A; Akahoshi, Keiichi K; Ono, Hiroaki H; Ishikawa, Toshiaki T; Tokunaga, Masanori M; Nakagawa, Tsuyoshi T; Oshima, Noriko N; Nakamura, Reiko R; Takagi, Masatoshi M; Asakage, Takahiro T; Uetake, Hiroyuki H; Tanabe, Minoru M; Miyake, Satoshi S; Kinugasa, Yusuke Y; Ikeda, Sadakatsu S

Publication Date: 2022

Variant appearance in text: RNF43: R519Q

PubMed Link: 35358259

Variant Present in the following documents:

• pone.0266112.s001.xlsx, sheet 1

View BVdb publication page

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A phospho-switch controls RNF43-mediated degradation of Wnt receptors to suppress tumorigenesis.

Nature Communications

Tsukiyama, Tadasuke T; Zou, Juqi J; Kim, Jihoon J; Ogamino, Shohei S; Shino, Yuki Y; Masuda, Takamasa T; Merenda, Alessandra A; Matsumoto, Masaki M; Fujioka, Yoichiro Y; Hirose, Tomonori T; Terai, Sayuri S; Takahashi, Hidehisa H; Ishitani, Tohru T; Nakayama, Keiichi I KI; Ohba, Yusuke Y; Koo, Bon-Kyoung BK; Hatakeyama, Shigetsugu S

Publication Date: 2020-09-15

Variant appearance in text: RNF43: R519Q

PubMed Link: 32934222

Variant Present in the following documents:

• Main text
• 41467_2020_18257_MOESM4_ESM.xlsx, sheet 54
• 41467_2020_Article_18257.pdf

View BVdb publication page

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Mutational landscape and genetic signatures of cell-free DNA in tumour-induced osteomalacia.

Journal Of Cellular And Molecular Medicine

Wu, Nan N; Zhang, Zhen Z; Zhou, Xi X; Zhao, Hengqiang H; Ming, Yue Y; Wu, Xue X; Zhang, Xian X; Yang, Xin-Zhuang XZ; Zhou, Meng M; Bao, Hua H; Chen, Weisheng W; Wu, Yong Y; Liu, Sen S; Wang, Huizi H; Niu, Yuchen Y; Li, Yalun Y; Zheng, Yu Y; Shao, Yang Y; Gao, Na N; Yang, Ying Y; Liu, Ying Y; Li, Wenli W; Liu, Jia J; Zhang, Na N; Yang, Xu X; Xu, Yuan Y; Li, Mei M; Sun, Yingli Y; Su, Jianzhong J; Zhang, Jianguo J; Xia, Weibo W; Qiu, Guixing G; Liu, Yong Y; Liu, Jiaqi J; Wu, Zhihong Z

Publication Date: 2020-05

Variant appearance in text: RNF43: 1556G>A; R519Q

PubMed Link: 32277576

Variant Present in the following documents:

• JCMM-24-4931-s011.xlsx, sheet 1

View BVdb publication page

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RNF43 mutation is associated with aggressive tumor biology along with BRAF V600E mutation in right-sided colorectal cancer.

Oncology Reports

Matsumoto, Akio A; Shimada, Yoshifumi Y; Nakano, Mae M; Oyanagi, Hidehito H; Tajima, Yosuke Y; Nakano, Masato M; Kameyama, Hitoshi H; Hirose, Yuki Y; Ichikawa, Hiroshi H; Nagahashi, Masayuki M; Nogami, Hitoshi H; Maruyama, Satoshi S; Takii, Yasumasa Y; Ling, Yiwei Y; Okuda, Shujiro S; Wakai, Toshifumi T

Publication Date: 2020-06

Variant appearance in text: RNF43: R519Q

PubMed Link: 32236609

Variant Present in the following documents:

• Main text
• or-43-06-1853.pdf

View BVdb publication page

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Discovery of actionable genetic alterations with targeted panel sequencing in children with relapsed or refractory solid tumors.

Plos One

Lee, Ji Won JW; Kim, Nayoung K D NKD; Lee, Soo Hyun SH; Cho, Hee Won HW; Ma, Youngeun Y; Ju, Hee Young HY; Yoo, Keon Hee KH; Sung, Ki Woong KW; Koo, Hong Hoe HH; Park, Woong-Yang WY

Publication Date: 2019

Variant appearance in text: RNF43: R519Q; rs200166143

PubMed Link: 31747416

Variant Present in the following documents:

• pone.0224227.s002.xlsx, sheet 1

View BVdb publication page

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Genomic Profiling on an Unselected Solid Tumor Population Reveals a Highly Mutated Wnt/β-Catenin Pathway Associated with Oncogenic EGFR Mutations.

Journal Of Personalized Medicine

Jiang, Jingrui J; Protopopov, Alexei A; Sun, Ruobai R; Lyle, Stephen S; Russell, Meaghan M

Publication Date: 2018-04-09

Variant appearance in text: RNF43: R519Q

PubMed Link: 29642553

Variant Present in the following documents:

• Main text
• jpm-08-00013.pdf

View BVdb publication page

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A Landscape of Pharmacogenomic Interactions in Cancer.

Cell

Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ

Publication Date: 2016-07-28

Variant appearance in text: RNF43: 1556G>A; R519Q

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 3

View BVdb publication page

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Genomic Correlates of Immune-Cell Infiltrates in Colorectal Carcinoma.

Cell Reports

Giannakis, Marios M; Mu, Xinmeng Jasmine XJ; Shukla, Sachet A SA; Qian, Zhi Rong ZR; Cohen, Ofir O; Nishihara, Reiko R; Bahl, Samira S; Cao, Yin Y; Amin-Mansour, Ali A; Yamauchi, Mai M; Sukawa, Yasutaka Y; Stewart, Chip C; Rosenberg, Mara M; Mima, Kosuke K; Inamura, Kentaro K; Nosho, Katsuhiko K; Nowak, Jonathan A JA; Lawrence, Michael S MS; Giovannucci, Edward L EL; Chan, Andrew T AT; Ng, Kimmie K; Meyerhardt, Jeffrey A JA; Van Allen, Eliezer M EM; Getz, Gad G; Gabriel, Stacey B SB; Lander, Eric S ES; Wu, Catherine J CJ; Fuchs, Charles S CS; Ogino, Shuji S; Garraway, Levi A LA

Publication Date: 2016-04-26

Variant appearance in text: RNF43: R519Q

PubMed Link: 27149842

Variant Present in the following documents:

• mmc2.xlsx, sheet 4

View BVdb publication page

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