Publications:

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Novel rare genetic variants of familial and sporadic pulmonary atresia identified by whole-exome sequencing.

Open Life Sciences

Xing, Junyue J; Wang, Hongdan H; Xie, Yuanyuan Y; Fan, Taibing T; Cui, Cunying C; Li, Yanan Y; Wang, Shuai S; Gu, Weiyue W; Wang, Chengzeng C; Tang, Hao H; Liu, Lin L

Publication Date: 2023

Variant appearance in text: PABPC1: L562S

PubMed Link: 37215497

Variant Present in the following documents:

• Main text
• biol-2022-0593.pdf
• biol-2022-0593-sm.pdf

View BVdb publication page

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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: PABPC1: L562S

PubMed Link: 36928921

Variant Present in the following documents:

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

View BVdb publication page

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Genetic variants in African-American and Hispanic patients with breast cancer.

Oncology Letters

Dutta, Pranabananda P; Keung, Man Y MY; Wu, Yanyuan Y; Vadgama, Jaydutt V JV

Publication Date: 2023-02

Variant appearance in text: PABPC1: 1685T>C; L562S

PubMed Link: 36644153

Variant Present in the following documents:

• Supplementary_Data5.xlsx, sheet 1

View BVdb publication page

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Molecular underpinnings of exceptional response in primary malignant melanoma of the esophagus to anti-PD-1 monotherapy.

Journal For Immunotherapy Of Cancer

Dai, Jie J; Bai, Xue X; Gao, Xuan X; Tang, Lirui L; Chen, Yu Y; Sun, Linzi L; Wei, Xiaoting X; Li, Caili C; Qi, Zhonghui Z; Kong, Yan Y; Cui, Chuanliang C; Chi, Zhihong Z; Sheng, Xinan X; Xu, Zelong Z; Lian, Bin B; Li, Siming S; Yan, Xieqiao X; Tang, Bixia B; Zhou, Li L; Wang, Xuan X; Xia, Xuefeng X; Guo, Jun J; Mao, Lili L; Si, Lu L

Publication Date: 2023-01

Variant appearance in text: PABPC1: Leu562Ser

PubMed Link: 36593066

Variant Present in the following documents:

• jitc-2022-005937supp007.xls, sheet 1

View BVdb publication page

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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: PABPC1: 1685T>C; Leu562Ser

PubMed Link: 36350923

Variant Present in the following documents:

• pnas.2203491119.sd01.xlsx, sheet 1

View BVdb publication page

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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: PABPC1: L562S

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM4_ESM.xlsx, sheet 2

View BVdb publication page

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Spatially restricted drivers and transitional cell populations cooperate with the microenvironment in untreated and chemo-resistant pancreatic cancer.

Nature Genetics

Cui Zhou, Daniel D; Jayasinghe, Reyka G RG; Chen, Siqi S; Herndon, John M JM; Iglesia, Michael D MD; Navale, Pooja P; Wendl, Michael C MC; Caravan, Wagma W; Sato, Kazuhito K; Storrs, Erik E; Mo, Chia-Kuei CK; Liu, Jingxian J; Southard-Smith, Austin N AN; Wu, Yige Y; Naser Al Deen, Nataly N; Baer, John M JM; Fulton, Robert S RS; Wyczalkowski, Matthew A MA; Liu, Ruiyang R; Fronick, Catrina C CC; Fulton, Lucinda A LA; Shinkle, Andrew A; Thammavong, Lisa L; Zhu, Houxiang H; Sun, Hua H; Wang, Liang-Bo LB; Li, Yize Y; Zuo, Chong C; McMichael, Joshua F JF; Davies, Sherri R SR; Appelbaum, Elizabeth L EL; Robbins, Keenan J KJ; Chasnoff, Sara E SE; Yang, Xiaolu X; Reeb, Ashley N AN; Oh, Clara C; Serasanambati, Mamatha M; Lal, Preet P; Varghese, Rajees R; Mashl, Jay R JR; Ponce, Jennifer J; Terekhanova, Nadezhda V NV; Yao, Lijun L; Wang, Fang F; Chen, Lijun L; Schnaubelt, Michael M; Lu, Rita Jui-Hsien RJ; Schwarz, Julie K JK; Puram, Sidharth V SV; Kim, Albert H AH; Song, Sheng-Kwei SK; Shoghi, Kooresh I KI; Lau, Ken S KS; Ju, Tao T; Chen, Ken K; Chatterjee, Deyali D; Hawkins, William G WG; Zhang, Hui H; Achilefu, Samuel S; Chheda, Milan G MG; Oh, Stephen T ST; Gillanders, William E WE; Chen, Feng F; DeNardo, David G DG; Fields, Ryan C RC; Ding, Li L

Publication Date: 2022-09

Variant appearance in text: rs80006036

PubMed Link: 35995947

Variant Present in the following documents:

• 41588_2022_1157_MOESM4_ESM.xlsx, sheet 2

View BVdb publication page

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Fragmentation patterns and personalized sequencing of cell-free DNA in urine and plasma of glioma patients.

Embo Molecular Medicine

Mouliere, Florent F; Smith, Christopher G CG; Heider, Katrin K; Su, Jing J; van der Pol, Ymke Y; Thompson, Mareike M; Morris, James J; Wan, Jonathan C M JCM; Chandrananda, Dineika D; Hadfield, James J; Grzelak, Marta M; Hudecova, Irena I; Couturier, Dominique-Laurent DL; Cooper, Wendy W; Zhao, Hui H; Gale, Davina D; Eldridge, Matthew M; Watts, Colin C; Brindle, Kevin K; Rosenfeld, Nitzan N; Mair, Richard R

Publication Date: 2021-08-09

Variant appearance in text: PABPC1: 1685T>C; Leu562Ser; rs80006036

PubMed Link: 34291583

Variant Present in the following documents:

• EMMM-13-e12881-s010.xlsx, sheet 1

View BVdb publication page

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Proteasome inhibitor-induced modulation reveals the spliceosome as a specific therapeutic vulnerability in multiple myeloma.

Nature Communications

Huang, Hector H HH; Ferguson, Ian D ID; Thornton, Alexis M AM; Bastola, Prabhakar P; Lam, Christine C; Lin, Yu-Hsiu T YT; Choudhry, Priya P; Mariano, Margarette C MC; Marcoulis, Makeba D MD; Teo, Chin Fen CF; Malato, Julia J; Phojanakong, Paul J PJ; Martin, Thomas G TG; Wolf, Jeffrey L JL; Wong, Sandy W SW; Shah, Nina N; Hann, Byron B; Brooks, Angela N AN; Wiita, Arun P AP

Publication Date: 2020-04-22

Variant appearance in text: PABPC1: 1685T>C; Leu562Ser

PubMed Link: 32321912

Variant Present in the following documents:

• 41467_2020_15521_MOESM8_ESM.xlsx, sheet 1

View BVdb publication page

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Detection of neoantigen-specific T cells following a personalized vaccine in a patient with glioblastoma.

Oncoimmunology

Johanns, Tanner M TM; Miller, Christopher A CA; Liu, Connor J CJ; Perrin, Richard J RJ; Bender, Diane D; Kobayashi, Dale K DK; Campian, Jian L JL; Chicoine, Michael R MR; Dacey, Ralph G RG; Huang, Jiayi J; Fritsch, Edward F EF; Gillanders, William E WE; Artyomov, Maxim N MN; Mardis, Elaine R ER; Schreiber, Robert D RD; Dunn, Gavin P GP

Publication Date: 2019

Variant appearance in text: PABPC1: L562S; rs80006036

PubMed Link: 30906654

Variant Present in the following documents:

• koni-08-04-1561106-s001.xlsx, sheet 1

View BVdb publication page

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A reference collection of patient-derived cell line and xenograft models of proneural, classical and mesenchymal glioblastoma.

Scientific Reports

Stringer, Brett W BW; Day, Bryan W BW; D'Souza, Rochelle C J RCJ; Jamieson, Paul R PR; Ensbey, Kathleen S KS; Bruce, Zara C ZC; Lim, Yi Chieh YC; Goasdoué, Kate K; Offenhäuser, Carolin C; Akgül, Seçkin S; Allan, Suzanne S; Robertson, Thomas T; Lucas, Peter P; Tollesson, Gert G; Campbell, Scott S; Winter, Craig C; Do, Hongdo H; Dobrovic, Alexander A; Inglis, Po-Ling PL; Jeffree, Rosalind L RL; Johns, Terrance G TG; Boyd, Andrew W AW

Publication Date: 2019-03-20

Variant appearance in text: PABPC1: L562S; rs80006036

PubMed Link: 30894629

Variant Present in the following documents:

• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 13
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 2

View BVdb publication page

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Revisiting aneuploidy profile of surgically retrieved spermatozoa by whole exome sequencing molecular karyotype.

Plos One

Cheung, Stephanie S; Schlegel, Peter N PN; Rosenwaks, Zev Z; Palermo, Gianpiero D GD

Publication Date: 2019

Variant appearance in text: PABPC1: 1685T>C; Leu562Ser

PubMed Link: 30608972

Variant Present in the following documents:

• pone.0210079.s007.xlsx, sheet 19
• pone.0210079.s007.xlsx, sheet 18
• pone.0210079.s007.xlsx, sheet 4
• pone.0210079.s007.xlsx, sheet 20
• pone.0210079.s007.xlsx, sheet 22
• pone.0210079.s007.xlsx, sheet 21
• pone.0210079.s007.xlsx, sheet 3

View BVdb publication page

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Whole-exon sequencing of human myeloma cell lines shows mutations related to myeloma patients at relapse with major hits in the DNA regulation and repair pathways.

Journal Of Hematology & Oncology

Tessoulin, Benoît B; Moreau-Aubry, Agnès A; Descamps, Géraldine G; Gomez-Bougie, Patricia P; Maïga, Sophie S; Gaignard, Alban A; Chiron, David D; Ménoret, Emmanuelle E; Le Gouill, Steven S; Moreau, Philippe P; Amiot, Martine M; Pellat-Deceunynck, Catherine C

Publication Date: 2018-12-13

Variant appearance in text: PABPC1: 1685T>C; L562S; rs80006036

PubMed Link: 30545397

Variant Present in the following documents:

• 13045_2018_679_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Molecular analysis of urothelial cancer cell lines for modeling tumor biology and drug response.

Oncogene

Nickerson, M L ML; Witte, N N; Im, K M KM; Turan, S S; Owens, C C; Misner, K K; Tsang, S X SX; Cai, Z Z; Wu, S S; Dean, M M; Costello, J C JC; Theodorescu, D D

Publication Date: 2017-01-05

Variant appearance in text: PABPC1: L562S; rs80006036

PubMed Link: 27270441

Variant Present in the following documents:

• onc2016172x3.xls, sheet 3

View BVdb publication page

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