Publications:

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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: NF1: L234L

PubMed Link: 36928921

Variant Present in the following documents:

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

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Detection and targeting of splicing deregulation in pediatric acute myeloid leukemia stem cells.

Cell Reports. Medicine

van der Werf, Inge I; Mondala, Phoebe K PK; Steel, S Kathleen SK; Balaian, Larisa L; Ladel, Luisa L; Mason, Cayla N CN; Diep, Raymond H RH; Pham, Jessica J; Cloos, Jacqueline J; Kaspers, Gertjan J L GJL; Chan, Warren C WC; Mark, Adam A; La Clair, James J JJ; Wentworth, Peggy P; Fisch, Kathleen M KM; Crews, Leslie A LA; Whisenant, Thomas C TC; Burkart, Michael D MD; Donohoe, Mary E ME; Jamieson, Catriona H M CHM

Publication Date: 2023-03-02

Variant appearance in text: NF1: L234=

PubMed Link: 36889320

Variant Present in the following documents:

• mmc4.pdf
• main.pdf

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Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports

Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-10-14

Variant appearance in text: NF1: L234L

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM5_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM10_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM3_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM11_ESM.xlsx, sheet 2

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Mutated RAS-associating proteins and ERK activation in relapse/refractory diffuse large B cell lymphoma.

Scientific Reports

Benoit, Alexandre A; Bou-Petit, Elisabeth E; Chou, Hsiang H; Lu, Melissa M; Guilbert, Cynthia C; Luo, Vincent Mingyi VM; Assouline, Sarit S; Morin, Ryan D RD; Dmitrienko, Svetlana S; Estrada-Tejedor, Roger R; Johnson, Nathalie A NA; Mann, Koren K KK

Publication Date: 2022-01-17

Variant appearance in text: NF1: L234L

PubMed Link: 35039569

Variant Present in the following documents:

• Main text
• 41598_2021_Article_4736.pdf
• 41598_2021_4736_MOESM1_ESM.pdf

View BVdb publication page

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Mutated RAS-associating proteins and ERK activation in relapse/refractory diffuse large B cell lymphoma.

Scientific Reports

Benoit, Alexandre A; Bou-Petit, Elisabeth E; Chou, Hsiang H; Lu, Melissa M; Guilbert, Cynthia C; Luo, Vincent Mingyi VM; Assouline, Sarit S; Morin, Ryan D RD; Dmitrienko, Svetlana S; Estrada-Tejedor, Roger R; Johnson, Nathalie A NA; Mann, Koren K KK

Publication Date: 2022-01-17

Variant appearance in text: NF1: L234L

PubMed Link: 35039569

Variant Present in the following documents:

• Main text
• 41598_2021_Article_4736.pdf
• 41598_2021_4736_MOESM1_ESM.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: NF1: Leu234=

PubMed Link: 32277576

Variant Present in the following documents:

• JCMM-24-4931-s010.xlsx, sheet 1

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Validation of CZECANCA (CZEch CAncer paNel for Clinical Application) for targeted NGS-based analysis of hereditary cancer syndromes.

Plos One

Soukupova, Jana J; Zemankova, Petra P; Lhotova, Klara K; Janatova, Marketa M; Borecka, Marianna M; Stolarova, Lenka L; Lhota, Filip F; Foretova, Lenka L; Machackova, Eva E; Stranecky, Viktor V; Tavandzis, Spiros S; Kleiblova, Petra P; Vocka, Michal M; Hartmannova, Hana H; Hodanova, Katerina K; Kmoch, Stanislav S; Kleibl, Zdenek Z

Publication Date: 2018

Variant appearance in text: NF1: L234L

PubMed Link: 29649263

Variant Present in the following documents:

• pone.0195761.s005.xlsx, sheet 1
• pone.0195761.s003.xlsx, sheet 1
• pone.0195761.s004.xlsx, sheet 1

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Sequencing and phasing cancer mutations in lung cancers using a long-read portable sequencer.

Dna Research : An International Journal For Rapid Publication Of Reports On Genes And Genomes

Suzuki, Ayako A; Suzuki, Mizuto M; Mizushima-Sugano, Junko J; Frith, Martin C MC; Makalowski, Wojciech W; Kohno, Takashi T; Sugano, Sumio S; Tsuchihara, Katsuya K; Suzuki, Yutaka Y

Publication Date: 2017-12-01

Variant appearance in text: NF1: L234L

PubMed Link: 29117310

Variant Present in the following documents:

• supplementary_data_dsx027.pdf

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Long segmental hyperplasia of interstitial cells of Cajal with giant diverticulum formation.

International Journal Of Clinical And Experimental Pathology

Xue, Liyan L; Qiu, Tian T; Song, Ying Y; Shan, Ling L; Liu, Xiuyun X; Guo, Lei L; Ying, Jianming J; Zou, Shuangmei S; Shi, Susheng S; Polydorides, Alexandros D AD; Zhao, Xinming X; Lu, Ning N; Lin, Dongmei D

Publication Date: 2013

Variant appearance in text: NF1: L234L

PubMed Link: 24294389

Variant Present in the following documents:

• Main text

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Effect of a poly(ADP-ribose) polymerase-1 inhibitor against esophageal squamous cell carcinoma cell lines.

Cancer Science

Nasuno, Tomomitsu T; Mimaki, Sachiyo S; Okamoto, Makito M; Esumi, Hiroyasu H; Tsuchihara, Katsuya K

Publication Date: 2014-02

Variant appearance in text: NF1: L234L

PubMed Link: 24219164

Variant Present in the following documents:

• cas0105-0202-SD2.xlsx, sheet 1
• cas0105-0202-SD3.xlsx, sheet 1

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