Publications:

---

Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: CTNNB1: 1543C>T; Arg515Ter

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

---

Integrated gene analyses of de novo variants from 46,612 trios with autism and developmental disorders.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Wang, Tianyun T; Kim, Chang N CN; Bakken, Trygve E TE; Gillentine, Madelyn A MA; Henning, Barbara B; Mao, Yafei Y; Gilissen, Christian C; , ; Nowakowski, Tomasz J TJ; Eichler, Evan E EE

Publication Date: 2022-11-15

Variant appearance in text: CTNNB1: 1543C>T; Arg515*

PubMed Link: 36350923

Variant Present in the following documents:

• pnas.2203491119.sd01.xlsx, sheet 1

View BVdb publication page

---

Analysis of matched primary and recurrent BRCA1/2 mutation-associated tumors identifies recurrence-specific drivers.

Nature Communications

Shah, Jennifer B JB; Pueschl, Dana D; Wubbenhorst, Bradley B; Fan, Mengyao M; Pluta, John J; D'Andrea, Kurt K; Hubert, Anna P AP; Shilan, Jake S JS; Zhou, Wenting W; Kraya, Adam A AA; Llop Guevara, Alba A; Ruan, Catherine C; Serra, Violeta V; Balmaña, Judith J; Feldman, Michael M; Morin, Pat J PJ; Nayak, Anupma A; Maxwell, Kara N KN; Domchek, Susan M SM; Nathanson, Katherine L KL

Publication Date: 2022-11-07

Variant appearance in text: CTNNB1: R515X

PubMed Link: 36344544

Variant Present in the following documents:

• 41467_2022_34523_MOESM4_ESM.xlsx, sheet 2

View BVdb publication page

---

Correlation between Phenotype and Genotype in CTNNB1 Syndrome: A Systematic Review of the Literature.

International Journal Of Molecular Sciences

Miroševič, Špela Š; Khandelwal, Shivang S; Sušjan, Petra P; Žakelj, Nina N; Gosar, David D; Forstnerič, Vida V; Lainšček, Duško D; Jerala, Roman R; Osredkar, Damjan D

Publication Date: 2022-10-19

Variant appearance in text: CTNNB1: 1543C>T

PubMed Link: 36293418

Variant Present in the following documents:

• Main text
• ijms-23-12564.pdf

View BVdb publication page

---

Predictive mutation signature of immunotherapy benefits in NSCLC based on machine learning algorithms.

Frontiers In Immunology

Liu, Zhichao Z; Lin, Guo G; Yan, Zeping Z; Li, Linduo L; Wu, Xingchen X; Shi, Jingrong J; He, Jianxing J; Zhao, Lei L; Liang, Hengrui H; Wang, Wei W

Publication Date: 2022

Variant appearance in text: CTNNB1: 1543C>T; R515*

PubMed Link: 36238300

Variant Present in the following documents:

• Table_1.xlsx, sheet 4

View BVdb publication page

---

EPHA5 mutation was associated with adverse outcome of atezolizumab treatment in late-stage non-small cell lung cancers.

Bmc Pulmonary Medicine

Li, Zhenxiang Z; Zhou, Qing Q; Wang, Qi Q; Wang, Haiyong H; Yue, Weiming W

Publication Date: 2022-09-19

Variant appearance in text: CTNNB1: 1543C>T; R515*

PubMed Link: 36123678

Variant Present in the following documents:

• 12890_2022_2161_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

---

Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes.

Nature Genetics

Zhou, Xueya X; Feliciano, Pamela P; Shu, Chang C; Wang, Tianyun T; Astrovskaya, Irina I; Hall, Jacob B JB; Obiajulu, Joseph U JU; Wright, Jessica R JR; Murali, Shwetha C SC; Xu, Simon Xuming SX; Brueggeman, Leo L; Thomas, Taylor R TR; Marchenko, Olena O; Fleisch, Christopher C; Barns, Sarah D SD; Snyder, LeeAnne Green LG; Han, Bing B; Chang, Timothy S TS; Turner, Tychele N TN; Harvey, William T WT; Nishida, Andrew A; O'Roak, Brian J BJ; Geschwind, Daniel H DH; , ; Michaelson, Jacob J JJ; Volfovsky, Natalia N; Eichler, Evan E EE; Shen, Yufeng Y; Chung, Wendy K WK

Publication Date: 2022-09

Variant appearance in text: CTNNB1: 1543C>T; R515*

PubMed Link: 35982159

Variant Present in the following documents:

• 41588_2022_1148_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

---

The extended clinical and genetic spectrum of CTNNB1-related neurodevelopmental disorder.

Frontiers In Pediatrics

Lee, Seungbok S; Jang, Se Song SS; Park, Soojin S; Yoon, Jihoon G JG; Kim, Soo Yeon SY; Lim, Byung Chan BC; Chae, Jong Hee JH

Publication Date: 2022

Variant appearance in text: CTNNB1: 1543C>T

PubMed Link: 35935366

Variant Present in the following documents:

• Main text
• fped-10-960450.pdf

View BVdb publication page

---

Phenotypic and Genetic Complexity in Pediatric Movement Disorders.

Frontiers In Genetics

Kim, Min-Jee MJ; Yum, Mi-Sun MS; Seo, Go Hun GH; Ko, Tae-Sung TS; Lee, Beom Hee BH

Publication Date: 2022

Variant appearance in text: CTNNB1: 1543C>T; Arg515Ter

PubMed Link: 35719373

Variant Present in the following documents:

• Main text
• fgene-13-829558.pdf

View BVdb publication page

---

Construction and validation of an immunoediting-based optimized neoantigen load (ioTNL) model to predict the response and prognosis of immune checkpoint therapy in various cancers.

Aging

Su, Xiaofan X; Jin, Haoxuan H; Wang, Jiaqian J; Lu, Huiping H; Gu, Tiantian T; Gao, Zhibo Z; Li, Manxiang M

Publication Date: 2022-05-25

Variant appearance in text: CTNNB1: 1543C>T; R515C

PubMed Link: 35613927

Variant Present in the following documents:

• aging-14-204101-s004.xlsx, sheet 1

View BVdb publication page

---

Large-scale discovery of novel neurodevelopmental disorder-related genes through a unified analysis of single-nucleotide and copy number variants.

Genome Medicine

Hamanaka, Kohei K; Miyake, Noriko N; Mizuguchi, Takeshi T; Miyatake, Satoko S; Uchiyama, Yuri Y; Tsuchida, Naomi N; Sekiguchi, Futoshi F; Mitsuhashi, Satomi S; Tsurusaki, Yoshinori Y; Nakashima, Mitsuko M; Saitsu, Hirotomo H; Yamada, Kohei K; Sakamoto, Masamune M; Fukuda, Hiromi H; Ohori, Sachiko S; Saida, Ken K; Itai, Toshiyuki T; Azuma, Yoshiteru Y; Koshimizu, Eriko E; Fujita, Atsushi A; Erturk, Biray B; Hiraki, Yoko Y; Ch'ng, Gaik-Siew GS; Kato, Mitsuhiro M; Okamoto, Nobuhiko N; Takata, Atsushi A; Matsumoto, Naomichi N

Publication Date: 2022-04-26

Variant appearance in text: CTNNB1: 1543C>T; Arg515*

PubMed Link: 35468861

Variant Present in the following documents:

• 13073_2022_1042_MOESM2_ESM.xls, sheet 8

View BVdb publication page

---

Genomic clonal evolution correlated with phenotype and prognosis in gastric cancer.

Clinical And Translational Medicine

Ge, Jie J; Li, Xuan X; Deng, Zhenghao Z; Gao, Xuan X; Liu, Yaoyao Y; Xiong, Xingui X; Zhao, Xianhui X; Peng, Huan H; Yi, Xin X; Xia, Xuefeng X; Chen, Zihua Z; Li, Lifeng L; Zhou, Haiyan H; Liu, Heli H

Publication Date: 2022-04

Variant appearance in text: CTNNB1: 1543C>T; R515*

PubMed Link: 35384329

Variant Present in the following documents:

• CTM2-12-e799-s006.xlsx, sheet 2

View BVdb publication page

---

Diagnostic performance of automated, streamlined, daily updated exome analysis in patients with neurodevelopmental delay.

Molecular Medicine (Cambridge, Mass.)

Seo, Go Hun GH; Lee, Hane H; Lee, Jungsul J; Han, Heonjong H; Cho, You Kyung YK; Kim, Minji M; Choi, Yunha Y; Choi, Jeongmin J; Choi, In Hee IH; Rhie, Seonkyeong S; Chae, Kyu Young KY; Kim, Yoo-Mi YM; Cheon, Chong Kun CK; Kim, Su Jin SJ; Lee, Jieun J; Kang, Eungu E; Byeon, Jung Hye JH; Yu, Hee Joon HJ; Shin, Young-Lim YL; Oh, Arum A; Kim, Woo Jin WJ; Yum, Mi-Sun MS; Lee, Beom Hee BH; Eun, Baik-Lin BL

Publication Date: 2022-03-26

Variant appearance in text: CTNNB1: 1543C>T; Arg515Ter

PubMed Link: 35346031

Variant Present in the following documents:

• 10020_2022_464_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

---

Multi-omics characterization of molecular features of gastric cancer correlated with response to neoadjuvant chemotherapy.

Science Advances

Li, Ziyu Z; Gao, Xiangyu X; Peng, Xinxin X; May Chen, Mei-Ju MJ; Li, Zhe Z; Wei, Bin B; Wen, Xianzi X; Wei, Baoye B; Dong, Yu Y; Bu, Zhaode Z; Wu, Aiwen A; Wu, Qi Q; Tang, Lei L; Li, Zhongwu Z; Liu, Yiqiang Y; Zhang, Li L; Jia, Shuqin S; Zhang, Lianhai L; Shan, Fei F; Zhang, Ji J; Wu, Xiaojiang X; Ji, Xin X; Ji, Ke K; Wu, Xiaolong X; Shi, Jinyao J; Xing, Xiaofang X; Wu, Jianmin J; Lv, Guoqing G; Shen, Lin L; Ji, Xuwo X; Liang, Han H; Ji, Jiafu J

Publication Date: 2020-02

Variant appearance in text: CTNNB1: R515*

PubMed Link: 32133402

Variant Present in the following documents:

• aay4211_Table_S2.xlsx, sheet 1

View BVdb publication page

---

Molecular genetics and targeted therapy of WNT-related human diseases (Review).

International Journal Of Molecular Medicine

Katoh, Masuko M; Katoh, Masaru M

Publication Date: 2017-09

Variant appearance in text: CTNNB1: R515X

PubMed Link: 28731148

Variant Present in the following documents:

• Main text
• ijmm-40-03-0587.pdf

View BVdb publication page

---

Clinical features associated with CTNNB1 de novo loss of function mutations in ten individuals.

European Journal Of Medical Genetics

Kharbanda, Mira M; Pilz, Daniela T DT; Tomkins, Susan S; Chandler, Kate K; Saggar, Anand A; Fryer, Alan A; McKay, Victoria V; Louro, Pedro P; Smith, Jill Clayton JC; Burn, John J; Kini, Usha U; De Burca, Anna A; FitzPatrick, David R DR; Kinning, Esther E; ,

Publication Date: 2017-02

Variant appearance in text: CTNNB1: Arg515*

PubMed Link: 27915094

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Dominant β-catenin mutations cause intellectual disability with recognizable syndromic features.

The Journal Of Clinical Investigation

Tucci, Valter V; Kleefstra, Tjitske T; Hardy, Andrea A; Heise, Ines I; Maggi, Silvia S; Willemsen, Marjolein H MH; Hilton, Helen H; Esapa, Chris C; Simon, Michelle M; Buenavista, Maria-Teresa MT; McGuffin, Liam J LJ; Vizor, Lucie L; Dodero, Luca L; Tsaftaris, Sotirios S; Romero, Rosario R; Nillesen, Willy N WN; Vissers, Lisenka E L M LE; Kempers, Marlies J MJ; Vulto-van Silfhout, Anneke T AT; Iqbal, Zafar Z; Orlando, Marta M; Maccione, Alessandro A; Lassi, Glenda G; Farisello, Pasqualina P; Contestabile, Andrea A; Tinarelli, Federico F; Nieus, Thierry T; Raimondi, Andrea A; Greco, Barbara B; Cantatore, Daniela D; Gasparini, Laura L; Berdondini, Luca L; Bifone, Angelo A; Gozzi, Alessandro A; Wells, Sara S; Nolan, Patrick M PM

Publication Date: 2014-04

Variant appearance in text: CTNNB1: Arg515*

PubMed Link: 24614104

Variant Present in the following documents:

• Main text

View BVdb publication page

---