Publications:

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Workflow enabling deepscale immunopeptidome, proteome, ubiquitylome, phosphoproteome, and acetylome analyses of sample-limited tissues.

Nature Communications

Abelin, Jennifer G JG; Bergstrom, Erik J EJ; Rivera, Keith D KD; Taylor, Hannah B HB; Klaeger, Susan S; Xu, Charles C; Verzani, Eva K EK; Jackson White, C C; Woldemichael, Hilina B HB; Virshup, Maya M; Olive, Meagan E ME; Maynard, Myranda M; Vartany, Stephanie A SA; Allen, Joseph D JD; Phulphagar, Kshiti K; Harry Kane, M M; Rachimi, Suzanna S; Mani, D R DR; Gillette, Michael A MA; Satpathy, Shankha S; Clauser, Karl R KR; Udeshi, Namrata D ND; Carr, Steven A SA

Publication Date: 2023-04-03

Variant appearance in text: GGH: T151I

PubMed Link: 37012232

Variant Present in the following documents:

• 41467_2023_37547_MOESM12_ESM.xlsx, sheet 3

View BVdb publication page

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Comprehensive proteogenomic characterization of early duodenal cancer reveals the carcinogenesis tracks of different subtypes.

Nature Communications

Li, Lingling L; Jiang, Dongxian D; Liu, Hui H; Guo, Chunmei C; Zhao, Rui R; Zhang, Qiao Q; Xu, Chen C; Qin, Zhaoyu Z; Feng, Jinwen J; Liu, Yang Y; Wang, Haixing H; Chen, Weijie W; Zhang, Xue X; Li, Bin B; Bai, Lin L; Tian, Sha S; Tan, Subei S; Yu, Zixiang Z; Chen, Lingli L; Huang, Jie J; Zhao, Jian-Yuan JY; Hou, Yingyong Y; Ding, Chen C

Publication Date: 2023-03-29

Variant appearance in text: GGH: T151I; rs11545078

PubMed Link: 36991000

Variant Present in the following documents:

• 41467_2023_37221_MOESM5_ESM.xlsx, sheet 3

View BVdb publication page

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Integrative single-cell analysis reveals transcriptional and epigenetic regulatory features of clear cell renal cell carcinoma.

Cancer Research

Yu, Zhenyuan Z; Lv, Yufang Y; Su, Cheng C; Lu, Wenhao W; Zhang, RuiRui R; Li, Jiaping J; Guo, Bingqian B; Yan, Haibiao H; Liu, Deyun D; Yang, Zhanbin Z; Mi, Hua H; Mo, Linjian L; Guo, Yi Y; Feng, Wenyu W; Xu, Haotian H; Peng, Wenyi W; Cheng, Jiwen J; Nan, Aruo A; Mo, Zengnan Z

Publication Date: 2023-01-06

Variant appearance in text: rs11545078

PubMed Link: 36607615

Variant Present in the following documents:

• can-22-2224_table_s8_suppst8.xlsx, sheet 12
• can-22-2224_table_s8_suppst8.xlsx, sheet 1
• can-22-2224_table_s8_suppst8.xlsx, sheet 11
• can-22-2224_table_s8_suppst8.xlsx, sheet 16
• can-22-2224_table_s8_suppst8.xlsx, sheet 18

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Pharmacogenetics of chemotherapy treatment response and -toxicities in patients with osteosarcoma: a systematic review.

Bmc Cancer

Hurkmans, Evelien G E EGE; Brand, Annouk C A M ACAM; Verdonschot, Job A J JAJ; Te Loo, D Maroeska W M DMWM; Coenen, Marieke J H MJH

Publication Date: 2022-12-19

Variant appearance in text: rs11545078

PubMed Link: 36536332

Variant Present in the following documents:

• Main text
• 12885_2022_Article_10434.pdf
• 12885_2022_10434_MOESM2_ESM.pdf

View BVdb publication page

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The Role of Single Nucleotide Polymorphisms in Transporter Proteins and the Folate Metabolism Pathway in Delayed Methotrexate Excretion: A Case Report and Literature Review.

Pharmacogenomics And Personalized Medicine

Wang, Jun J; Zhao, Yue-Tao YT; Sun, Meng-Jiao MJ; Chen, Feng F; Guo, Hong-Li HL

Publication Date: 2022

Variant appearance in text: rs11545078

PubMed Link: 36349164

Variant Present in the following documents:

• Main text
• pgpm-15-919.pdf

View BVdb publication page

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Beneficial effects of mifepristone treatment in breast cancer patients selected by the progesterone receptor isoform ratio: Results from the MIPRA trial.

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

Elía, Andrés A; Saldain, Leo L; Vanzulli, Silvia I SI; Helguero, Luisa A LA; Lamb, Caroline A CA; Fabris, Victoria V; Pataccini, Gabriela G; Martínez-Vazquez, Paula P; Burruchaga, Javier J; Caillet-Bois, Ines I; Spengler, Eunice E; Acosta Haab, Gabriela G; Liguori, Marcos M; Castets, Alejandra A; Lovisi, Silvia S; Abascal, María F MF; Novaro, Virginia V; Sánchez, Jana J; Muñoz, Javier J; Belizán, Jose M JM; Abba, Martín C MC; Gass, Hugo H; Rojas, Paola P; Lanari, Claudia C

Publication Date: 2022-10-21

Variant appearance in text: GGH: 452C>T; Thr151Ile; rs11545078

PubMed Link: 36269797

Variant Present in the following documents:

• ccr-22-2060_supplementary_table_s5_suppts5.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: GGH: T151I

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM11_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM3_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM5_ESM.xlsx, sheet 2

View BVdb publication page

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Genetic variations in methotrexate metabolic pathway genes influence methotrexate responses in rheumatoid arthritis patients in Malaysia.

Scientific Reports

Sha, Hong Xi HX; Veerapen, Kumar K; Chow, Sook Khuan SK; Gun, Suk Chyn SC; Lau, Ing Soo IS; Lim, Renee Lay Hong RLH; Zulkifli, Zaliha Z; Yow, Yoon-Yen YY; Peh, Suat Cheng SC; Hwang, Jung Shan JS

Publication Date: 2022-07-13

Variant appearance in text: rs11545078

PubMed Link: 35831345

Variant Present in the following documents:

• Main text
• 41598_2022_Article_15991.pdf

View BVdb publication page

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Integrated DNA and RNA Sequencing Reveals Drivers of Endocrine Resistance in Estrogen Receptor-Positive Breast Cancer.

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

Xia, Youli Y; He, Xiaping X; Renshaw, Lorna L; Martinez-Perez, Carlos C; Kay, Charlene C; Gray, Mark M; Meehan, James J; Parker, Joel S JS; Perou, Charles M CM; Carey, Lisa A LA; Dixon, J Michael JM; Turnbull, Arran A

Publication Date: 2022-08-15

Variant appearance in text: GGH: T151I; rs11545078

PubMed Link: 35653148

Variant Present in the following documents:

• ccr-21-3189_supplementary_tables_ts1-9_suppts1-9.xlsx, sheet 5

View BVdb publication page

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Impact of Variants in the ATIC and ARID5B Genes on Therapeutic Failure with Imatinib in Patients with Chronic Myeloid Leukemia.

Genes

Cereja Pantoja, Karla Beatriz Cardias KBC; Azevedo, Tereza Cristina de Brito TCB; Carvalho, Darlen Cardoso de DC; Monte, Natasha N; Cohen Paes, Amanda de Nazaré AN; Barros, Maria Clara da Costa MCDC; Vinagre, Lui Wallacy Morikawa Souza LWMS; Freitas, Ana Rosa Sales de ARS; Burbano, Rommel Mario Rodríguez RMR; Assumpção, Paulo Pimentel de PP; Santos, Sidney Emanuel Batista Dos SEBD; Fernandes, Marianne Rodrigues MR; Santos, Ney Pereira Carneiro Dos NPCD

Publication Date: 2022-02-10

Variant appearance in text: rs11545078

PubMed Link: 35205374

Variant Present in the following documents:

• genes-13-00330.pdf

View BVdb publication page

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A Risk Scoring Model for High-Dose Methotrexate-Induced Liver Injury in Children With Acute Lymphoblastic Leukemia Based on Gene Polymorphism Study.

Frontiers In Pharmacology

He, Xia X; Yao, Pingli P; Li, Mengting M; Liang, Hong H; Liu, Yilong Y; Du, Shan S; Zhang, Min M; Sun, Wenzhuo W; Wang, Zeyuan Z; Hao, Xin X; Yu, Ze Z; Gao, Fei F; Liu, Xinxia X; Tong, Rongsheng R

Publication Date: 2021

Variant appearance in text: rs11545078

PubMed Link: 34658865

Variant Present in the following documents:

• Main text
• fphar-12-726229.pdf

View BVdb publication page

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Genetic Polymorphisms of GGH and ABCC2 Are Associated with Methotrexate Intolerance in Patients with Rheumatoid Arthritis.

Journal Of Clinical Medicine

Escudero-Contreras, Alejandro A; López-Medina, Clementina C; Collantes-Estévez, Eduardo E; Ortega-Castro, Rafaela R; Calvo-Gutiérrez, Jerusalem J; Mena-Vázquez, Natalia N; Panero-Lamothe, Blanca B; Manzanares-Martín, Bárbara B; Cáliz-Cáliz, Rafael R; Jiménez-Morales, Alberto A; Ruiz-Jiménez, Mayte M; Font-Ugalde, Pilar P

Publication Date: 2021-09-09

Variant appearance in text: rs11545078

PubMed Link: 34575187

Variant Present in the following documents:

• Main text
• jcm-10-04070.pdf

View BVdb publication page

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Systematic Review of Pharmacogenetic Factors That Influence High-Dose Methotrexate Pharmacokinetics in Pediatric Malignancies.

Cancers

Taylor, Zachary L ZL; Vang, Jesper J; Lopez-Lopez, Elixabet E; Oosterom, Natanja N; Mikkelsen, Torben T; Ramsey, Laura B LB

Publication Date: 2021-06-07

Variant appearance in text: rs11545078

PubMed Link: 34200242

Variant Present in the following documents:

• Main text
• cancers-13-02837.pdf

View BVdb publication page

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Case Report: A Variant Non-ketotic Hyperglycinemia With GLRX5 Mutations: Manifestation of Deficiency of Activities of the Respiratory Chain Enzymes.

Frontiers In Genetics

Feng, Wei-Xing WX; Zhuo, Xiu-Wei XW; Liu, Zhi-Mei ZM; Li, Jiu-Wei JW; Zhang, Wei-Hua WH; Wu, Yun Y; Han, Tong-Li TL; Fang, Fang F

Publication Date: 2021

Variant appearance in text: GGH: 452C>T; T151I; rs11545078

PubMed Link: 34054912

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Prioritization of candidate genes for a South African family with Parkinson's disease using in-silico tools.

Plos One

Sebate, Boiketlo B; Cuttler, Katelyn K; Cloete, Ruben R; Britz, Marcell M; Christoffels, Alan A; Williams, Monique M; Carr, Jonathan J; Bardien, Soraya S

Publication Date: 2021

Variant appearance in text: GGH: 452C>T; T151I; rs11545078

PubMed Link: 33770142

Variant Present in the following documents:

• pone.0249324.s003.xlsx, sheet 1

View BVdb publication page

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Decoding variants in drug-metabolizing enzymes and transporters in solid tumor patients by whole-exome sequencing.

Saudi Journal Of Biological Sciences

Aboul-Soud, Mourad A M MAM; Alzahrani, Alhussain J AJ; Mahmoud, Amer A

Publication Date: 2021-01

Variant appearance in text: GGH: T151I; rs11545078

PubMed Link: 33424349

Variant Present in the following documents:

• mmc1.xlsx, sheet 1

View BVdb publication page

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Implementation of Pharmacogenetics to Individualize Treatment Regimens for Children with Acute Lymphoblastic Leukemia.

Pharmacogenomics And Personalized Medicine

Maamari, Dimitri D; El-Khoury, Habib H; Saifi, Omran O; Muwakkit, Samar A SA; Zgheib, Nathalie K NK

Publication Date: 2020

Variant appearance in text: rs11545078

PubMed Link: 32848445

Variant Present in the following documents:

• Main text
• pgpm-13-295.pdf

View BVdb publication page

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Pharmacogenomics and Pharmacogenetics in Osteosarcoma: Translational Studies and Clinical Impact.

International Journal Of Molecular Sciences

Hattinger, Claudia Maria CM; Patrizio, Maria Pia MP; Luppi, Silvia S; Serra, Massimo M

Publication Date: 2020-06-30

Variant appearance in text: rs11545078

PubMed Link: 32629971

Variant Present in the following documents:

• Main text
• ijms-21-04659.pdf

View BVdb publication page

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Association of NUDT15*3 and FPGS 2572C>T Variants with the Risk of Early Hematologic Toxicity During 6-MP and Low-Dose Methotrexate-Based Maintenance Therapy in Indian Patients with Acute Lymphoblastic Leukemia.

Genes

Kodidela, Sunitha S; Dorababu, Patchava P; Thakkar, Dimpal N DN; Dubashi, Biswajit B; Sundaram, Rajan R; Muralidharan, Niveditha N; Nidanapu, Ravi Prasad RP; Aribandi, Anil A; Pradhan, Suresh Chandra SC; Uppugunduri, Chakradhara Rao Satyanarayana CRS

Publication Date: 2020-05-28

Variant appearance in text: rs11545078

PubMed Link: 32481505

Variant Present in the following documents:

• Main text
• genes-11-00594.pdf
• genes-11-00594-s001.pdf

View BVdb publication page

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Are gene polymorphisms related to adverse events of methotrexate in patients with rheumatoid arthritis? A retrospective cohort study based on an updated meta-analysis.

Therapeutic Advances In Chronic Disease

Huang, Jing J; Fan, Huizhen H; Qiu, Qi Q; Liu, Kunpeng K; Lv, Shuang S; Li, Jiang J; Yang, Hui H; Shu, Xiaoming X; Xu, Yuan Y; Lu, Xiangchen X; Lu, Cheng C; Zhang, Yunnan Y; Xiao, Cheng C

Publication Date: 2020

Variant appearance in text: rs11545078

PubMed Link: 32426102

Variant Present in the following documents:

• Main text
• 10.1177_2040622320916026.pdf
• Additional_file_1.pdf

View BVdb publication page

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Multi-level evidence of an allelic hierarchy of USH2A variants in hearing, auditory processing and speech/language outcomes.

Communications Biology

Perrino, Peter A PA; Talbot, Lidiya L; Kirkland, Rose R; Hill, Amanda A; Rendall, Amanda R AR; Mountford, Hayley S HS; Taylor, Jenny J; , ; Buscarello, Alexzandrea N AN; Lahiri, Nayana N; Saggar, Anand A; Fitch, R Holly RH; Newbury, Dianne F DF

Publication Date: 2020-04-20

Variant appearance in text: rs11545078

PubMed Link: 32313182

Variant Present in the following documents:

• 42003_2020_885_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Association of genes ARID5B, CEBPE and folate pathway with acute lymphoblastic leukemia in a population from the Brazilian Amazon region.

Leukemia Research Reports

Carvalho, Darlen Cardoso DC; Wanderley, Alayde Vieira AV; Mello Junior, Fernando Augusto Rodrigues FAR; Santos, André Mauricio Ribeiro Dos AMRD; Leitão, Luciana Pereira Colares LPC; Souza, Tatiane Piedade de TP; Castro, Amanda de Nazaré Cohen Lima de ANCL; Magalhães, Leandro Lopes de LL; Fernandes, Marianne Rodrigues MR; Carvalho Junior, João Augusto Nunes de JAN; Khayat, André Salim AS; Santos, Sidney S; Assumpção, Paulo Pimentel de PP; Dos Santos, Ney Pereira Carneiro NPC

Publication Date: 2020

Variant appearance in text: GGH: Thr151Ile; rs11545078

PubMed Link: 31867206

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Identification of new putative driver mutations and predictors of disease evolution in chronic lymphocytic leukemia.

Blood Cancer Journal

Mosquera Orgueira, Adrián A; Antelo Rodríguez, Beatriz B; Díaz Arias, José Ángel JÁ; Bello López, José Luis JL

Publication Date: 2019-09-30

Variant appearance in text: GGH: 452C>T; T151I; rs11545078

PubMed Link: 31570692

Variant Present in the following documents:

• 41408_2019_243_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Targeted next generation sequencing as a tool for precision medicine.

Bmc Medical Genomics

Gulilat, Markus M; Lamb, Tyler T; Teft, Wendy A WA; Wang, Jian J; Dron, Jacqueline S JS; Robinson, John F JF; Tirona, Rommel G RG; Hegele, Robert A RA; Kim, Richard B RB; Schwarz, Ute I UI

Publication Date: 2019-06-03

Variant appearance in text: GGH: T151I; rs11545078

PubMed Link: 31159795

Variant Present in the following documents:

• 12920_2019_527_MOESM1_ESM.xlsx, sheet 6

View BVdb publication page

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Accumulation of rare coding variants in genes implicated in risk of human cleft lip with or without cleft palate.

American Journal Of Medical Genetics. Part A

Marini, Nicholas J NJ; Asrani, Kripa K; Yang, Wei W; Rine, Jasper J; Shaw, Gary M GM

Publication Date: 2019-07

Variant appearance in text: GGH: T151I; rs11545078

PubMed Link: 31063268

Variant Present in the following documents:

• AJMG-179-1260-s007.xlsx, sheet 1
• AJMG-179-1260-s005.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: GGH: T151I; rs11545078

PubMed Link: 30894629

Variant Present in the following documents:

• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 11
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 10

View BVdb publication page

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Methylation level of CpG islands in GGH gene promoter in pediatric acute leukemia.

Plos One

Li, Yue Y; Liu, Sixi S; Wang, Huihui H; Mai, Huirong H; Yuan, Xiuli X; Li, Changgang C; Chen, Xiaowen X; Wen, Feiqiu F

Publication Date: 2017

Variant appearance in text: rs11545078

PubMed Link: 28278270

Variant Present in the following documents:

• Main text

View BVdb publication page

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Polymorphisms and Pharmacogenomics for the Clinical Efficacy of Methotrexate in Patients with Rheumatoid Arthritis: A Systematic Review and Meta-analysis.

Scientific Reports

Qiu, Qi Q; Huang, Jing J; Shu, Xiaoming X; Fan, Huizheng H; Zhou, Youwen Y; Xiao, Cheng C

Publication Date: 2017-03-07

Variant appearance in text: rs11545078

PubMed Link: 28266606

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic polymorphisms of enzyme proteins and transporters related to methotrexate response and pharmacokinetics in a Japanese population.

Journal Of Pharmaceutical Health Care And Sciences

Hashiguchi, Masayuki M; Shimizu, Mikiko M; Hakamata, Jun J; Tsuru, Tomomi T; Tanaka, Takanori T; Suzaki, Midori M; Miyawaki, Kumika K; Chiyoda, Takeshi T; Takeuchi, Osamu O; Hiratsuka, Jiro J; Irie, Shin S; Maruyama, Junya J; Mochizuki, Mayumi M

Publication Date: 2016

Variant appearance in text: rs11545078

PubMed Link: 27980801

Variant Present in the following documents:

• Main text
• 40780_2016_Article_69.pdf

View BVdb publication page

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Folylpolyglutamate synthase is a major determinant of intracellular methotrexate polyglutamates in patients with rheumatoid arthritis.

Scientific Reports

Yamamoto, Tatsuhiro T; Shikano, Kotaro K; Nanki, Toshihiro T; Kawai, Shinichi S

Publication Date: 2016-10-18

Variant appearance in text: rs11545078

PubMed Link: 27752107

Variant Present in the following documents:

• Main text

View BVdb publication page

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Candidate germline polymorphisms of genes belonging to the pathways of four drugs used in osteosarcoma standard chemotherapy associated with risk, survival and toxicity in non-metastatic high-grade osteosarcoma.

Oncotarget

Hattinger, Claudia M CM; Biason, Paola P; Iacoboni, Erika E; Gagno, Sara S; Fanelli, Marilù M; Tavanti, Elisa E; Vella, Serena S; Ferrari, Stefano S; Roli, Andrea A; Roncato, Rossana R; Giodini, Luciana L; Scotlandi, Katia K; Picci, Piero P; Toffoli, Giuseppe G; Serra, Massimo M

Publication Date: 2016-09-20

Variant appearance in text: GGH: Thr151Ile; rs11545078

PubMed Link: 27566557

Variant Present in the following documents:

• Main text
• oncotarget-07-61970.pdf

View BVdb publication page

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: rs11545078

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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Associations between genetic variants in folate and drug metabolizing pathways and relapse risk in pediatric acute lymphoid leukemia on CCG-1952.

Leukemia Research Reports

Vujkovic, Marijana M; Kershenbaum, Aaron A; Wray, Lisa L; McWilliams, Thomas T; Cannon, Shannon S; Devidas, Meenakshi M; Stork, Linda L; Aplenc, Richard R

Publication Date: 2015

Variant appearance in text: rs11545078

PubMed Link: 26605150

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: GGH: T151I

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 1

View BVdb publication page

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Whole genome sequencing of an ethnic Pathan (Pakhtun) from the north-west of Pakistan.

Bmc Genomics

Ilyas, Muhammad M; Kim, Jong-Soo JS; Cooper, Jesse J; Shin, Young-Ah YA; Kim, Hak-Min HM; Cho, Yun Sung YS; Hwang, Seungwoo S; Kim, Hyunho H; Moon, Jaewoo J; Chung, Oksung O; Jun, JeHoon J; Rastogi, Achal A; Song, Sanghoon S; Ko, Junsu J; Manica, Andrea A; Rahman, Ziaur Z; Husnain, Tayyab T; Bhak, Jong J

Publication Date: 2015-03-12

Variant appearance in text: GGH: T151I; rs11545078

PubMed Link: 25887915

Variant Present in the following documents:

• 12864_2015_1290_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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Whole-genome sequencing of the world's oldest people.

Plos One

Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK

Publication Date: 2014

Variant appearance in text: GGH: T151I; rs11545078

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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Exome sequencing is an efficient tool for variant late-infantile neuronal ceroid lipofuscinosis molecular diagnosis.

Plos One

Patiño, Liliana Catherine LC; Battu, Rajani R; Ortega-Recalde, Oscar O; Nallathambi, Jeyabalan J; Anandula, Venkata Ramana VR; Renukaradhya, Umashankar U; Laissue, Paul P

Publication Date: 2014

Variant appearance in text: GGH: T151I

PubMed Link: 25333361

Variant Present in the following documents:

• pone.0109576.s001.xls, sheet 3
• pone.0109576.s003.xls, sheet 3
• pone.0109576.s002.xls, sheet 3

View BVdb publication page

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Comparative pharmacogenetic analysis of risk polymorphisms in Caucasian and Vietnamese children with acute lymphoblastic leukemia: prediction of therapeutic outcome?

British Journal Of Clinical Pharmacology

Hoang, Phuong Thu Vu PT; Ambroise, Jérôme J; Dekairelle, Anne-France AF; Durant, Jean-François JF; Butoescu, Valentina V; Chi, Vu Luan Dang VL; Huynh, Nghia N; Nguyen, Tan Binh TB; Robert, Annie A; Vermylen, Christiane C; Gala, Jean-Luc JL

Publication Date: 2015-03

Variant appearance in text: rs11545078

PubMed Link: 25099492

Variant Present in the following documents:

• Main text

View BVdb publication page

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NCI-60 whole exome sequencing and pharmacological CellMiner analyses.

Plos One

Reinhold, William C WC; Varma, Sudhir S; Sousa, Fabricio F; Sunshine, Margot M; Abaan, Ogan D OD; Davis, Sean R SR; Reinhold, Spencer W SW; Kohn, Kurt W KW; Morris, Joel J; Meltzer, Paul S PS; Doroshow, James H JH; Pommier, Yves Y

Publication Date: 2014

Variant appearance in text: GGH: T151I; rs11545078

PubMed Link: 25032700

Variant Present in the following documents:

• pone.0101670.s004.xlsx, sheet 1

View BVdb publication page

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Screening for 392 polymorphisms in 141 pharmacogenes.

Biomedical Reports

Kim, Jason Yongha JY; Cheong, Hyun Sub HS; Park, Tae-Joon TJ; Shin, Hee Jung HJ; Seo, Doo Won DW; Na, Han Sung HS; Chung, Myeon Woo MW; Shin, Hyoung Doo HD

Publication Date: 2014-07

Variant appearance in text: rs11545078

PubMed Link: 24944790

Variant Present in the following documents:

• Main text

View BVdb publication page

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Roles of genetic polymorphisms in the folate pathway in childhood acute lymphoblastic leukemia evaluated by Bayesian relevance and effect size analysis.

Plos One

Lautner-Csorba, Orsolya O; Gézsi, András A; Erdélyi, Dániel J DJ; Hullám, Gábor G; Antal, Péter P; Semsei, Ágnes F ÁF; Kutszegi, Nóra N; Kovács, Gábor G; Falus, András A; Szalai, Csaba C

Publication Date: 2013

Variant appearance in text: rs11545078

PubMed Link: 23940529

Variant Present in the following documents:

• Main text

View BVdb publication page

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One-carbon metabolism factors and leukocyte telomere length.

The American Journal Of Clinical Nutrition

Liu, Jason J JJ; Prescott, Jennifer J; Giovannucci, Edward E; Hankinson, Susan E SE; Rosner, Bernard B; De Vivo, Immaculata I

Publication Date: 2013-04

Variant appearance in text: rs11545078

PubMed Link: 23446900

Variant Present in the following documents:

• Main text

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Pharmacogenomics in children: advantages and challenges of next generation sequencing applications.

International Journal Of Pediatrics

Vanakker, O M OM; De Paepe, A A

Publication Date: 2013

Variant appearance in text: GGH: Thr151Ile

PubMed Link: 23401694

Variant Present in the following documents:

• Main text

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