Publications:

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JAK3 mutations and mitochondrial apoptosis resistance in T-cell acute lymphoblastic leukemia.

Leukemia

Bodaar, Kimberly K; Yamagata, Natsuko N; Barthe, Anais A; Landrigan, Jack J; Chonghaile, Triona Ni TN; Burns, Melissa M; Stevenson, Kristen E KE; Devidas, Meenakshi M; Loh, Mignon L ML; Hunger, Stephen P SP; Wood, Brent B; Silverman, Lewis B LB; Teachey, David T DT; Meijerink, Jules P JP; Letai, Anthony A; Gutierrez, Alejandro A

Publication Date: 2022-06

Variant appearance in text: NOTCH1: 5153T>C; I1718T

PubMed Link: 35411095

Variant Present in the following documents:

• NIHMS1792675-supplement-Supplementary_Table_2.xlsx, sheet 1

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Either IL-7 activation of JAK-STAT or BEZ inhibition of PI3K-AKT-mTOR pathways dominates the single-cell phosphosignature of ex vivo treated pediatric T-cell acute lymphoblastic leukemia cells.

Haematologica

Kuzilková, Daniela D; Bugarin, Cristina C; Rejlova, Katerina K; Schulz, Axel R AR; Mei, Henrik E HE; Paganin, Maddalena M; Biffi, Alessandra A; Biondi, Andrea A; Kalina, Tomas T; Gaipa, Giuseppe G

Publication Date: 2022-06-01

Variant appearance in text: NOTCH1: I1718T

PubMed Link: 34670357

Variant Present in the following documents:

• 2021.278796_KUZILKOVA_SUPPL.pdf

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Targeted Therapy of Papillary Thyroid Cancer: A Comprehensive Genomic Analysis.

Frontiers In Endocrinology

Hescheler, Daniel A DA; Riemann, Burkhard B; Hartmann, Milan J M MJM; Michel, Maximilian M; Faust, Michael M; Bruns, Christiane J CJ; Alakus, Hakan H; Chiapponi, Costanza C

Publication Date: 2021

Variant appearance in text: NOTCH1: I1718T

PubMed Link: 34630336

Variant Present in the following documents:

• Table_1.xlsx, sheet 2

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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: I1718T

PubMed Link: 33436855

Variant Present in the following documents:

• 41598_2020_80613_MOESM1_ESM.pdf

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The evolution of relapse of adult T cell acute lymphoblastic leukemia.

Genome Biology

Sentís, Inés I; Gonzalez, Santiago S; Genescà, Eulalia E; García-Hernández, Violeta V; Muiños, Ferran F; Gonzalez, Celia C; López-Arribillaga, Erika E; Gonzalez, Jessica J; Fernandez-Ibarrondo, Lierni L; Mularoni, Loris L; Espinosa, Lluís L; Bellosillo, Beatriz B; Ribera, Josep-Maria JM; Bigas, Anna A; Gonzalez-Perez, Abel A; Lopez-Bigas, Nuria N

Publication Date: 2020-11-23

Variant appearance in text: NOTCH1: I1718T

PubMed Link: 33225950

Variant Present in the following documents:

• 13059_2020_2192_MOESM1_ESM.xlsx, sheet 5

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Single-cell DNA amplicon sequencing reveals clonal heterogeneity and evolution in T-cell acute lymphoblastic leukemia.

Blood

Albertí-Servera, Llucia L; Demeyer, Sofie S; Govaerts, Inge I; Swings, Toon T; De Bie, Jolien J; Gielen, Olga O; Brociner, Marco M; Michaux, Lucienne L; Maertens, Johan J; Uyttebroeck, Anne A; De Keersmaecker, Kim K; Boeckx, Nancy N; Segers, Heidi H; Cools, Jan J

Publication Date: 2021-02-11

Variant appearance in text: NOTCH1: I1718T

PubMed Link: 32812017

Variant Present in the following documents:

• Main text

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Identification of targeted therapy options for gastric adenocarcinoma by comprehensive analysis of genomic data.

Gastric Cancer : Official Journal Of The International Gastric Cancer Association And The Japanese Gastric Cancer Association

Hescheler, Daniel A DA; Plum, Patrick S PS; Zander, Thomas T; Quaas, Alexander A; Korenkov, Michael M; Gassa, Asmae A; Michel, Maximilian M; Bruns, Christiane J CJ; Alakus, Hakan H

Publication Date: 2020-07

Variant appearance in text: NOTCH1: I1718T

PubMed Link: 32107691

Variant Present in the following documents:

• 10120_2020_1045_MOESM1_ESM.xlsx, sheet 12

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Fanconi-BRCA pathway mutations in childhood T-cell acute lymphoblastic leukemia.

Plos One

Pouliot, Gayle P GP; Degar, James J; Hinze, Laura L; Kochupurakkal, Bose B; Vo, Chau D CD; Burns, Melissa A MA; Moreau, Lisa L; Ganesa, Chirag C; Roderick, Justine J; Peirs, Sofie S; Menten, Bjorn B; Loh, Mignon L ML; Hunger, Stephen P SP; Silverman, Lewis B LB; Harris, Marian H MH; Stevenson, Kristen E KE; Weinstock, David M DM; Weng, Andrew P AP; Van Vlierberghe, Pieter P; D'Andrea, Alan D AD; Gutierrez, Alejandro A

Publication Date: 2019

Variant appearance in text: NOTCH1: 5153T>C; I1718T

PubMed Link: 31721781

Variant Present in the following documents:

• pone.0221288.s012.xlsx, sheet 1

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Molecular Profiling of Hard-to-Treat Childhood and Adolescent Cancers.

Jama Network Open

Khater, Fida F; Vairy, Stephanie S; Langlois, Sylvie S; Dumoucel, Sophie S; Sontag, Thomas T; St-Onge, Pascal P; Bittencourt, Henrique H; Dal Soglio, Dorothée D; Champagne, Josette J; Duval, Michel M; Leclerc, Jean-Marie JM; Laverdiere, Caroline C; Tran, Thai Hoa TH; Patey, Natalie N; Ellezam, Benjamin B; Perreault, Sébastien S; Piché, Nelson N; Samson, Yvan Y; Teira, Pierre P; Jabado, Nada N; Michon, Bruno B; Brossard, Josée J; Marzouki, Monia M; Cellot, Sonia S; Sinnett, Daniel D

Publication Date: 2019-04-05

Variant appearance in text: NOTCH1: I1718T

PubMed Link: 31026031

Variant Present in the following documents:

• Main text

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Resectable lung lesions malignancy assessment and cancer detection by ultra-deep sequencing of targeted gene mutations in plasma cell-free DNA.

Journal Of Medical Genetics

Peng, Muyun M; Xie, Yuancai Y; Li, Xiaohua X; Qian, Youhui Y; Tu, Xiaonian X; Yao, Xumei X; Cheng, Fangsheng F; Xu, Feiyue F; Kong, Deju D; He, Bing B; Liu, Chaoyu C; Cao, Fengjun F; Yang, Haoxian H; Yu, Fenglei F; Xu, Chuanbo C; Tian, Geng G

Publication Date: 2019-10

Variant appearance in text: NOTCH1: 5153T>C; Ile1718Thr

PubMed Link: 30981987

Variant Present in the following documents:

• jmedgenet-2018-105825supp002.xlsx, sheet 4

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PRC2 loss induces chemoresistance by repressing apoptosis in T cell acute lymphoblastic leukemia.

The Journal Of Experimental Medicine

Ariës, Ingrid M IM; Bodaar, Kimberly K; Karim, Salmaan A SA; Chonghaile, Triona Ni TN; Hinze, Laura L; Burns, Melissa A MA; Pfirrmann, Maren M; Degar, James J; Landrigan, Jack T JT; Balbach, Sebastian S; Peirs, Sofie S; Menten, Björn B; Isenhart, Randi R; Stevenson, Kristen E KE; Neuberg, Donna S DS; Devidas, Meenakshi M; Loh, Mignon L ML; Hunger, Stephen P SP; Teachey, David T DT; Rabin, Karen R KR; Winter, Stuart S SS; Dunsmore, Kimberly P KP; Wood, Brent L BL; Silverman, Lewis B LB; Sallan, Stephen E SE; Van Vlierberghe, Pieter P; Orkin, Stuart H SH; Knoechel, Birgit B; Letai, Anthony G AG; Gutierrez, Alejandro A

Publication Date: 2018-12-03

Variant appearance in text: NOTCH1: 5153T>C; I1718T

PubMed Link: 30404791

Variant Present in the following documents:

• JEM_20180570_TableS4.xlsx, sheet 1

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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: I1718T

PubMed Link: 30387229

Variant Present in the following documents:

• CAS-110-784-s012.xlsx, sheet 1

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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: I1718T

PubMed Link: 28157215

Variant Present in the following documents:

• bcj20173x11.xlsx, sheet 1

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IL-7 Receptor Mutations and Steroid Resistance in Pediatric T cell Acute Lymphoblastic Leukemia: A Genome Sequencing Study.

Plos Medicine

Li, Yunlei Y; Buijs-Gladdines, Jessica G C A M JG; Canté-Barrett, Kirsten K; Stubbs, Andrew P AP; Vroegindeweij, Eric M EM; Smits, Willem K WK; van Marion, Ronald R; Dinjens, Winand N M WN; Horstmann, Martin M; Kuiper, Roland P RP; Buijsman, Rogier C RC; Zaman, Guido J R GJ; van der Spek, Peter J PJ; Pieters, Rob R; Meijerink, Jules P P JP

Publication Date: 2016-12

Variant appearance in text: NOTCH1: I1718T

PubMed Link: 27997540

Variant Present in the following documents:

• pmed.1002200.s012.xlsx, sheet 3

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