Publications:

---

Integrated genomic analyses identify high-risk factors and actionable targets in T-cell acute lymphoblastic leukemia.

Blood Science (Baltimore, Md.)

Zhu, Haichuan H; Dong, Bingjie B; Zhang, Yingchi Y; Wang, Mei M; Rao, Jianan J; Cui, Bowen B; Liu, Yu Y; Jiang, Qian Q; Wang, Weitao W; Yang, Lu L; Yu, Anqi A; Li, Zongru Z; Liu, Chao C; Zhang, Leping L; Huang, Xiaojun X; Zhu, Xiaofan X; Wu, Hong H

Publication Date: 2022-01

Variant appearance in text: NOTCH1: Q2391*

PubMed Link: 35399540

Variant Present in the following documents:

• bls-4-16-s005.xlsx, sheet 2

View BVdb publication page

---

Estimating the frequency of causal genetic variants in foetuses with congenital heart defects: a Chinese cohort study.

Orphanet Journal Of Rare Diseases

Lu, Fengying F; Xue, Peng P; Zhang, Bin B; Wang, Jing J; Yu, Bin B; Liu, Jianbin J

Publication Date: 2022-01-04

Variant appearance in text: NOTCH1: Q2391X

PubMed Link: 34983622

Variant Present in the following documents:

• Main text
• 13023_2021_Article_2167.pdf

View BVdb publication page

---

Estimating the frequency of causal genetic variants in foetuses with congenital heart defects: a Chinese cohort study.

Orphanet Journal Of Rare Diseases

Lu, Fengying F; Xue, Peng P; Zhang, Bin B; Wang, Jing J; Yu, Bin B; Liu, Jianbin J

Publication Date: 2022-01-04

Variant appearance in text: NOTCH1: Q2391X

PubMed Link: 34983622

Variant Present in the following documents:

• Main text
• 13023_2021_Article_2167.pdf

View BVdb publication page

---

Targeted sequencing to identify genetic alterations and prognostic markers in pediatric T-cell acute lymphoblastic leukemia.

Scientific Reports

Chang, Ya-Hsuan YH; Yu, Chih-Hsiang CH; Jou, Shiann-Tarng ST; Lin, Chien-Yu CY; Lin, Kai-Hsin KH; Lu, Meng-Yao MY; Wu, Kang-Hsi KH; Chang, Hsiu-Hao HH; Lin, Dong-Tsamn DT; Lin, Shu-Wha SW; Chen, Hsuan-Yu HY; Yang, Yung-Li YL

Publication Date: 2021-01-12

Variant appearance in text: NOTCH1: Q2391X

PubMed Link: 33436855

Variant Present in the following documents:

• 41598_2020_80613_MOESM1_ESM.pdf

View BVdb publication page

---

<i>SF3B1</i>-mutated chronic lymphocytic leukemia shows evidence of NOTCH1 pathway activation including CD20 downregulation

Haematologica

Pozzo, Federico F; Bittolo, Tamara T; Tissino, Erika E; Vit, Filippo F; Vendramini, Elena E; Laurenti, Luca L; D'Arena, Giovanni G; Olivieri, Jacopo J; Pozzato, Gabriele G; Zaja, Francesco F; Chiarenza, Annalisa A; Di Raimondo, Francesco F; Zucchetto, Antonella A; Bomben, Riccardo R; Rossi, Francesca Maria FM; Del Poeta, Giovanni G; Dal Bo, Michele M; Gattei, Valter V

Publication Date: 2021-12-01

Variant appearance in text: NOTCH1: Q2391*

PubMed Link: 33121237

Variant Present in the following documents:

• 2020_261891_POZZO_SUPPL.pdf

View BVdb publication page

---

NOTCH1 pathway activating mutations and clonal evolution in pediatric T-cell acute lymphoblastic leukemia.

Cancer Science

Kimura, Shunsuke S; Seki, Masafumi M; Yoshida, Kenichi K; Shiraishi, Yuichi Y; Akiyama, Masaharu M; Koh, Katsuyoshi K; Imamura, Toshihiko T; Manabe, Atsushi A; Hayashi, Yasuhide Y; Kobayashi, Masao M; Oka, Akira A; Miyano, Satoru S; Ogawa, Seishi S; Takita, Junko J

Publication Date: 2019-02

Variant appearance in text: NOTCH1: Q2391X

PubMed Link: 30387229

Variant Present in the following documents:

• CAS-110-784-s012.xlsx, sheet 1

View BVdb publication page

---

NOTCH1 Aberrations in Chronic Lymphocytic Leukemia.

Frontiers In Oncology

Rosati, Emanuela E; Baldoni, Stefano S; De Falco, Filomena F; Del Papa, Beatrice B; Dorillo, Erica E; Rompietti, Chiara C; Albi, Elisa E; Falzetti, Franca F; Di Ianni, Mauro M; Sportoletti, Paolo P

Publication Date: 2018

Variant appearance in text: NOTCH1: Q2391*

PubMed Link: 29998084

Variant Present in the following documents:

• Main text
• fonc-08-00229.pdf

View BVdb publication page

---

Clinical impact of miR-223 expression in pediatric T-Cell lymphoblastic lymphoma.

Oncotarget

Pomari, Elena E; Lovisa, Federica F; Carraro, Elisa E; Primerano, Simona S; D'Amore, Emanuele S G ESG; Bonvini, Paolo P; Nigro, Luca Lo LL; Vito, Rita De R; Vinti, Luciana L; Farruggia, Piero P; Pillon, Marta M; Basso, Giuseppe G; Basso, Katia K; Mussolin, Lara L

Publication Date: 2017-12-08

Variant appearance in text: NOTCH1: 7171C>T; Q2391*

PubMed Link: 29296210

Variant Present in the following documents:

View BVdb publication page

---

Identification of a genetically defined ultra-high-risk group in relapsed pediatric T-lymphoblastic leukemia.

Blood Cancer Journal

Richter-Pechańska, P P; Kunz, J B JB; Hof, J J; Zimmermann, M M; Rausch, T T; Bandapalli, O R OR; Orlova, E E; Scapinello, G G; Sagi, J C JC; Stanulla, M M; Schrappe, M M; Cario, G G; Kirschner-Schwabe, R R; Eckert, C C; Benes, V V; Korbel, J O JO; Muckenthaler, M U MU; Kulozik, A E AE

Publication Date: 2017-02-03

Variant appearance in text: NOTCH1: Q2391X

PubMed Link: 28157215

Variant Present in the following documents:

• bcj20173x11.xlsx, sheet 1

View BVdb publication page

---