Publications:

---

A Phase II Trial of Guadecitabine plus Atezolizumab in Metastatic Urothelial Carcinoma Progressing after Initial Immune Checkpoint Inhibitor Therapy.

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

Jang, H Josh HJ; Hostetter, Galen G; MacFarlane, Alexander W AW; Madaj, Zachary Z; Ross, Eric A EA; Hinoue, Toshinori T; Kulchycki, Justin R JR; Burgos, Ryan S RS; Tafseer, Mahvish M; Alpaugh, R Katherine RK; Schwebel, Candice L CL; Kokate, Rutika R; Geynisman, Daniel M DM; Zibelman, Matthew R MR; Ghatalia, Pooja P; Nichols, Peter W PW; Chung, Woonbok W; Madzo, Jozef J; Hahn, Noah M NM; Quinn, David I DI; Issa, Jean-Pierre J JJ; Topper, Michael J MJ; Baylin, Stephen B SB; Shen, Hui H; Campbell, Kerry S KS; Jones, Peter A PA; Plimack, Elizabeth R ER

Publication Date: 2023-03-16

Variant appearance in text: EZH2: R362W

PubMed Link: 36928921

Variant Present in the following documents:

• ccr-22-3642_supplementary_tables_1_suppts1.xlsx, sheet 3

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: EZH2: 1084C>T; R362W

PubMed Link: 35982159

Variant Present in the following documents:

• 41588_2022_1148_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

---

Pan-cancer circulating tumor DNA detection in over 10,000 Chinese patients.

Nature Communications

Zhang, Yongliang Y; Yao, Yu Y; Xu, Yaping Y; Li, Lifeng L; Gong, Yan Y; Zhang, Kai K; Zhang, Meng M; Guan, Yanfang Y; Chang, Lianpeng L; Xia, Xuefeng X; Li, Lin L; Jia, Shuqin S; Zeng, Qiang Q

Publication Date: 2021-01-04

Variant appearance in text: EZH2: 1084C>T; R362W

PubMed Link: 33397889

Variant Present in the following documents:

• 41467_2020_20162_MOESM6_ESM.xlsx, sheet 1

View BVdb publication page

---

Networking for advanced molecular diagnosis in acute myeloid leukemia patients is possible: the PETHEMA NGS-AML project

Haematologica

Sargas, Claudia C; Ayala, Rosa R; Chillón, María Carmen MC; Larráyoz, María J MJ; Carrillo-Cruz, Estrella E; Bilbao, Cristina C; Yébenes-Ramírez, Manuel M; Llop, Marta M; Rapado, Inmaculada I; García-Sanz, Ramón R; Vázquez, Iria I; Soria, Elena E; Florido-Ortega, Yanira Y; Janusz, Kamila K; Botella, Carmen C; Serrano, Josefina J; Martínez-Cuadrón, David D; Bergua, Juan J; Amigo, Mari Luz ML; Martínez-Sánchez, Pilar P; Tormo, Mar M; Bernal, Teresa T; Herrera-Puente, Pilar P; García, Raimundo R; Algarra, Lorenzo L; Sayas, María J MJ; Costilla-Barriga, Lisette L; Pérez-Santolalla, Esther E; Marchante, Inmaculada I; Lavilla-Rubira, Esperanza E; Noriega, Víctor V; Alonso-Domínguez, Juan M JM; Sanz, Miguel Á MÁ; Sánchez-Garcia, Joaquín J; Gómez-Casares, María T MT; Pérez-Simón, José A JA; Calasanz, María J MJ; González-Díaz, Marcos M; Martínez-López, Joaquín J; Barragán, Eva E; Montesinos, Pau P

Publication Date: 2021-12-01

Variant appearance in text: EZH2: 1084C>T; Arg362*

PubMed Link: 33179471

Variant Present in the following documents:

• 2020_263806_SARGAS_SUPPL.pdf

View BVdb publication page

---

Networking for advanced molecular diagnosis in acute myeloid leukemia patients is possible: the PETHEMA NGS-AML project

Haematologica

Sargas, Claudia C; Ayala, Rosa R; Chillón, María Carmen MC; Larráyoz, María J MJ; Carrillo-Cruz, Estrella E; Bilbao, Cristina C; Yébenes-Ramírez, Manuel M; Llop, Marta M; Rapado, Inmaculada I; García-Sanz, Ramón R; Vázquez, Iria I; Soria, Elena E; Florido-Ortega, Yanira Y; Janusz, Kamila K; Botella, Carmen C; Serrano, Josefina J; Martínez-Cuadrón, David D; Bergua, Juan J; Amigo, Mari Luz ML; Martínez-Sánchez, Pilar P; Tormo, Mar M; Bernal, Teresa T; Herrera-Puente, Pilar P; García, Raimundo R; Algarra, Lorenzo L; Sayas, María J MJ; Costilla-Barriga, Lisette L; Pérez-Santolalla, Esther E; Marchante, Inmaculada I; Lavilla-Rubira, Esperanza E; Noriega, Víctor V; Alonso-Domínguez, Juan M JM; Sanz, Miguel Á MÁ; Sánchez-Garcia, Joaquín J; Gómez-Casares, María T MT; Pérez-Simón, José A JA; Calasanz, María J MJ; González-Díaz, Marcos M; Martínez-López, Joaquín J; Barragán, Eva E; Montesinos, Pau P

Publication Date: 2021-12-01

Variant appearance in text: EZH2: 1084C>T; Arg362*

PubMed Link: 33179471

Variant Present in the following documents:

• 2020_263806_SARGAS_SUPPL.pdf

View BVdb publication page

---

Epigenetic Enzyme Mutations: Role in Tumorigenesis and Molecular Inhibitors.

Frontiers In Oncology

Han, Mei M; Jia, Lina L; Lv, Wencai W; Wang, Lihui L; Cui, Wei W

Publication Date: 2019

Variant appearance in text: EZH2: R362W

PubMed Link: 30984620

Variant Present in the following documents:

• Main text

View BVdb publication page

---

EZH2 in Cancer Progression and Potential Application in Cancer Therapy: A Friend or Foe?

International Journal Of Molecular Sciences

Yan, Ke-Sin KS; Lin, Chia-Yuan CY; Liao, Tan-Wei TW; Peng, Cheng-Ming CM; Lee, Shou-Chun SC; Liu, Yi-Jui YJ; Chan, Wing P WP; Chou, Ruey-Hwang RH

Publication Date: 2017-05-31

Variant appearance in text: EZH2: R362W

PubMed Link: 28561778

Variant Present in the following documents:

• Main text
• ijms-18-01172.pdf

View BVdb publication page

---

Age-related mutations associated with clonal hematopoietic expansion and malignancies.

Nature Medicine

Xie, Mingchao M; Lu, Charles C; Wang, Jiayin J; McLellan, Michael D MD; Johnson, Kimberly J KJ; Wendl, Michael C MC; McMichael, Joshua F JF; Schmidt, Heather K HK; Yellapantula, Venkata V; Miller, Christopher A CA; Ozenberger, Bradley A BA; Welch, John S JS; Link, Daniel C DC; Walter, Matthew J MJ; Mardis, Elaine R ER; Dipersio, John F JF; Chen, Feng F; Wilson, Richard K RK; Ley, Timothy J TJ; Ding, Li L

Publication Date: 2014-12

Variant appearance in text: EZH2: R362W

PubMed Link: 25326804

Variant Present in the following documents:

• NIHMS630249-supplement-5.xlsx, sheet 1
• NIHMS630249-supplement-6.xlsx, sheet 1

View BVdb publication page

---