Publications:

---

Associations Between Genetic Polymorphisms Within Transporter Genes and Clinical Response to Methotrexate in Chinese Rheumatoid Arthritis Patients: A Pilot Study.

Pharmacogenomics And Personalized Medicine

Cen, Han H; Wen, Qin-Wen QW; Zhang, Han-Qing HQ; Yu, Hang H; Zeng, Zhen Z; Jin, Ting T; Wang, Ting-Hui TH; Qin, Wen W; Huang, Hua H; Wu, Xiu-Di XD

Publication Date: 2022

Variant appearance in text: rs1051298

PubMed Link: 35437350

Variant Present in the following documents:

• Main text
• pgpm-15-327.pdf

View BVdb publication page

---

Genetic Polymorphisms of Very Important Pharmacogene Variants in the Blang Population from Yunnan Province in China.

Pharmacogenomics And Personalized Medicine

Wang, Yuliang Y; Peng, Linna L; Lu, Hongyan H; Zhang, Zhanhao Z; Xing, Shishi S; Li, Dandan D; He, Chunjuan C; Jin, Tianbo T; Wang, Li L

Publication Date: 2021

Variant appearance in text: rs1051298

PubMed Link: 34949935

Variant Present in the following documents:

• Main text
• pgpm-14-1647.pdf

View BVdb publication page

---

Genetic analysis of pharmacogenomic VIP variants in the Wa population from Yunnan Province of China.

Bmc Genomic Data

Li, Dandan D; Peng, Linna L; Xing, Shishi S; He, Chunjuan C; Jin, Tianbo T

Publication Date: 2021-11-19

Variant appearance in text: rs1051298

PubMed Link: 34798807

Variant Present in the following documents:

• Main text
• 12863_2021_Article_999.pdf

View BVdb publication page

---

Analysis of Very Important Pharmacogenomics Variants in the Chinese Lahu Population.

Pharmacogenomics And Personalized Medicine

Cheng, Yujing Y; Li, Qi Q; Yang, Xin X; Ding, Heng H; Chen, Wanlu W; Dai, Run R; Zhang, Chan C

Publication Date: 2021

Variant appearance in text: rs1051298

PubMed Link: 34629888

Variant Present in the following documents:

• Main text
• pgpm-14-1275.pdf

View BVdb publication page

---

Population Genetic Difference of Pharmacogenomic VIP Variants in the Tibetan Population.

Pharmacogenomics And Personalized Medicine

He, Chunjuan C; Peng, Linna L; Xing, Shishi S; Li, Dandan D; Wang, Li L; Jin, Tianbo T

Publication Date: 2021

Variant appearance in text: rs1051298

PubMed Link: 34429635

Variant Present in the following documents:

• Main text
• pgpm-14-1027.pdf

View BVdb publication page

---

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: rs1051298

PubMed Link: 34054912

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

---

Genetic analysis of sinonasal undifferentiated carcinoma discovers recurrent SWI/SNF alterations and a novel PGAP3-SRPK1 fusion gene.

Bmc Cancer

Heft Neal, Molly E ME; Birkeland, Andrew C AC; Bhangale, Apurva D AD; Zhai, Jingyi J; Kulkarni, Aditi A; Foltin, Susan K SK; Jewell, Brittany M BM; Ludwig, Megan L ML; Pinatti, Lisa L; Jiang, Hui H; McHugh, Jonathan B JB; Marentette, Lawence L; McKean, Erin L EL; Brenner, J Chad JC

Publication Date: 2021-05-29

Variant appearance in text: rs1051298

PubMed Link: 34051734

Variant Present in the following documents:

• 12885_2021_8370_MOESM15_ESM.xlsx, sheet 1

View BVdb publication page

---

Disseminated Talaromyces marneffei Infection in a Non-HIV Infant With a Homozygous Private Variant of RELB.

Frontiers In Cellular And Infection Microbiology

Ding, Xiaofang X; Huang, Han H; Zhong, Lili L; Chen, Min M; Peng, Fang F; Zhang, Bing B; Cui, Xinyu X; Yang, Xiu-An XA

Publication Date: 2021

Variant appearance in text: rs1051298

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

---

Identification of a nonsense mutation in TNNI3K associated with cardiac conduction disease.

Journal Of Clinical Laboratory Analysis

Liu, Jiang J; Liu, Da D; Li, Muzheng M; Wu, Keke K; Liu, Na N; Zhao, Chenyu C; Shi, Xiaoliu X; Liu, Qiming Q

Publication Date: 2020-09

Variant appearance in text: rs1051298

PubMed Link: 32529721

Variant Present in the following documents:

• JCLA-34-e23418-s003.xls, sheet 1

View BVdb publication page

---

Genetic polymorphisms of pharmacogenomic VIP variants in the Dai population from Yunnan province.

Molecular Genetics & Genomic Medicine

Cheng, Yujing Y; Dai, Run R; Chen, Wanlu W; Li, Qi Q; Zhang, Chan C; Yang, Tonghua T

Publication Date: 2020-07

Variant appearance in text: rs1051298

PubMed Link: 32347657

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Translational Knowledge Discovery Between Drug Interactions and Pharmacogenetics.

Clinical Pharmacology And Therapeutics

Wu, Heng-Yi HY; Shendre, Aditi A; Zhang, Shijun S; Zhang, Pengyue P; Wang, Lei L; Zeruesenay, Desta D; Rocha, Luis M LM; Shatkay, Hagit H; Quinney, Sara K SK; Ning, Xia X; Li, Lang L

Publication Date: 2020-04

Variant appearance in text: rs1051298

PubMed Link: 31863452

Variant Present in the following documents:

• Main text

View BVdb publication page

---

The genetic landscape of the human solute carrier (SLC) transporter superfamily.

Human Genetics

Schaller, Lena L; Lauschke, Volker M VM

Publication Date: 2019-12

Variant appearance in text: rs1051298

PubMed Link: 31679053

Variant Present in the following documents:

• Main text
• 439_2019_Article_2081.pdf

View BVdb publication page

---

Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Scientific Reports

Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA

Publication Date: 2019-10-09

Variant appearance in text: rs1051298

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM9_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM8_ESM.xlsx, sheet 1

View BVdb publication page

---

Discovery of Novel Biomarkers of Therapeutic Responses in Han Chinese Pemetrexed-Based Treated Advanced NSCLC Patients.

Frontiers In Pharmacology

Zhang, Xiaoqing X; Zhang, Di D; Huang, Lihua L; Li, Guorong G; Chen, Luan L; Ma, Jingsong J; Li, Mo M; Wei, Muyun M; Zhou, Wei W; Zhou, Chenxi C; Zhu, Jinhang J; Wang, Zhanhui Z; Qin, Shengying S

Publication Date: 2019

Variant appearance in text: rs1051298

PubMed Link: 31507426

Variant Present in the following documents:

• Main text
• fphar-10-00944.pdf

View BVdb publication page

---

Genetic polymorphisms analysis of pharmacogenomic VIP variants in Bai ethnic group from China.

Molecular Genetics & Genomic Medicine

Chen, Wanlu W; Ding, Heng H; Cheng, Yujing Y; Li, Qi Q; Dai, Run R; Yang, Xin X; Zhang, Chan C

Publication Date: 2019-09

Variant appearance in text: rs1051298

PubMed Link: 31361092

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Population genetic difference of pharmacogenomic VIP gene variants in the Lisu population from Yunnan Province.

Medicine

Zhang, Chan C; Jiang, Xiaochun X; Chen, Wanlu W; Li, Qi Q; Yun, Fubin F; Yang, Xin X; Dai, Run R; Cheng, Yujing Y

Publication Date: 2018-12

Variant appearance in text: rs1051298

PubMed Link: 30593137

Variant Present in the following documents:

• medi-97-e13674.pdf

View BVdb publication page

---

Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology

Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P

Publication Date: 2018

Variant appearance in text: rs1051298

PubMed Link: 30319441

Variant Present in the following documents:

• Table_6.xlsx, sheet 1
• Table_5.xlsx, sheet 1
• Table_7.xlsx, sheet 1

View BVdb publication page

---

Whole genome sequencing identifies high-impact variants in well-known pharmacogenomic genes.

The Pharmacogenomics Journal

Choi, Jihoon J; Tantisira, Kelan G KG; Duan, Qing Ling QL

Publication Date: 2019-04

Variant appearance in text: rs1051298

PubMed Link: 30214008

Variant Present in the following documents:

• NIHMS1503453-supplement-3.xlsx, sheet 1

View BVdb publication page

---

A likely pathogenic variant putatively affecting splicing of PIGA identified in a multiple congenital anomalies hypotonia-seizures syndrome 2 (MCAHS2) family pedigree via whole-exome sequencing.

Molecular Genetics & Genomic Medicine

Yang, Junli J; Wang, Qiong Q; Zhuo, Qingcui Q; Tian, Huiling H; Li, Wen W; Luo, Fang F; Zhang, Jinghui J; Bi, Dan D; Peng, Jing J; Zhou, Dong D; Xin, Huawei H

Publication Date: 2018-09

Variant appearance in text: rs1051298

PubMed Link: 29974678

Variant Present in the following documents:

• MGG3-6-739-s002.xlsx, sheet 7
• MGG3-6-739-s002.xlsx, sheet 4
• MGG3-6-739-s002.xlsx, sheet 6
• MGG3-6-739-s002.xlsx, sheet 5

View BVdb publication page

---

Proteogenomic analysis prioritises functional single nucleotide variants in cancer samples.

Oncotarget

Ma, Shiyong S; Menon, Ranjeeta R; Poulos, Rebecca C RC; Wong, Jason W H JWH

Publication Date: 2017-11-10

Variant appearance in text: rs1051298

PubMed Link: 29221171

Variant Present in the following documents:

• oncotarget-08-95841-s002.xlsx, sheet 1

View BVdb publication page

---

Mutations in folate transporter genes and risk for human myelomeningocele.

American Journal Of Medical Genetics. Part A

Findley, Tina O TO; Tenpenny, Joy C JC; O'Byrne, Michelle R MR; Morrison, Alanna C AC; Hixson, James E JE; Northrup, Hope H; Au, Kit Sing KS

Publication Date: 2017-11

Variant appearance in text: rs1051298

PubMed Link: 28948692

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation

Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H

Publication Date: 2017

Variant appearance in text: rs1051298

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

View BVdb publication page

---

Investigation of DNA repair-related SNPs underlying susceptibility to papillary thyroid carcinoma reveals MGMT as a novel candidate gene in Belarusian children exposed to radiation.

Bmc Cancer

Lonjou, Christine C; Damiola, Francesca F; Moissonnier, Monika M; Durand, Geoffroy G; Malakhova, Irina I; Masyakin, Vladimir V; Le Calvez-Kelm, Florence F; Cardis, Elisabeth E; Byrnes, Graham G; Kesminiene, Ausrele A; Lesueur, Fabienne F

Publication Date: 2017-05-12

Variant appearance in text: rs1051298

PubMed Link: 28499365

Variant Present in the following documents:

• 12885_2017_3314_MOESM1_ESM.xls, sheet 1

View BVdb publication page

---

Proteogenomic analysis reveals exosomes are more oncogenic than ectosomes.

Oncotarget

Keerthikumar, Shivakumar S; Gangoda, Lahiru L; Liem, Michael M; Fonseka, Pamali P; Atukorala, Ishara I; Ozcitti, Cemil C; Mechler, Adam A; Adda, Christopher G CG; Ang, Ching-Seng CS; Mathivanan, Suresh S

Publication Date: 2015-06-20

Variant appearance in text: rs1051298

PubMed Link: 25944692

Variant Present in the following documents:

• oncotarget-06-15375-s005.xlsx, sheet 2

View BVdb publication page

---

NCCTG N0821 (Alliance): a phase II first-line study of pemetrexed, carboplatin, and bevacizumab in elderly patients with advanced nonsquamous non-small-cell lung cancer with good performance status.

Journal Of Thoracic Oncology : Official Publication Of The International Association For The Study Of Lung Cancer

Dy, Grace K GK; Molina, Julian R JR; Qi, Yingwei Y; Ansari, Rafat R; Thomas, Sachdev S; Ross, Helen J HJ; Soori, Gamini G; Anderson, Daniel D; Aubry, Marie Christine MC; Meyers, Jeffrey J; Adjei, Araba A AA; Mandrekar, Sumithra S; Adjei, Alex A AA

Publication Date: 2014-08

Variant appearance in text: rs1051298

PubMed Link: 25157767

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Polymorphisms in thymidylate synthase and reduced folate carrier (SLC19A1) genes predict survival outcome in advanced non-small cell lung cancer patients treated with pemetrexed-based chemotherapy.

Oncology Letters

Li, Wen-Juan WJ; Jiang, Hua H; Fang, Xin-Jian XJ; Ye, Hong-Ling HL; Liu, Ming-Huan MH; Liu, Yan-Wen YW; Chen, Qian Q; Zhang, Li L; Zhang, Jin-Yu JY; Yuan, Chun-Luan CL; Zhang, Qiu-Yun QY

Publication Date: 2013-04

Variant appearance in text: rs1051298

PubMed Link: 23599757

Variant Present in the following documents:

• Main text
• ol-05-04-1165.pdf

View BVdb publication page

---

Folate network genetic variation, plasma homocysteine, and global genomic methylation content: a genetic association study.

Bmc Medical Genetics

Wernimont, Susan M SM; Clark, Andrew G AG; Stover, Patrick J PJ; Wells, Martin T MT; Litonjua, Augusto A AA; Weiss, Scott T ST; Gaziano, J Michael JM; Tucker, Katherine L KL; Baccarelli, Andrea A; Schwartz, Joel J; Bollati, Valentina V; Cassano, Patricia A PA

Publication Date: 2011-11-21

Variant appearance in text: rs1051298

PubMed Link: 22103680

Variant Present in the following documents:

• Main text
• 1471-2350-12-150.pdf

View BVdb publication page

---

SLC19A1 pharmacogenomics summary.

Pharmacogenetics And Genomics

Yee, Sook Wah SW; Gong, Li L; Badagnani, Ilaria I; Giacomini, Kathleen M KM; Klein, Teri E TE; Altman, Russ B RB

Publication Date: 2010-11

Variant appearance in text: rs1051298

PubMed Link: 20811316

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Variation in folate pathway genes contributes to risk of congenital heart defects among individuals with Down syndrome.

Genetic Epidemiology

Locke, Adam E AE; Dooley, Kenneth J KJ; Tinker, Stuart W SW; Cheong, Soo Yeon SY; Feingold, Eleanor E; Allen, Emily G EG; Freeman, Sallie B SB; Torfs, Claudine P CP; Cua, Clifford L CL; Epstein, Michael P MP; Wu, Michael C MC; Lin, Xihong X; Capone, George G; Sherman, Stephanie L SL; Bean, Lora J H LJ

Publication Date: 2010-09

Variant appearance in text: rs1051298

PubMed Link: 20718043

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Correlation between polymorphisms of the reduced folate carrier gene (SLC19A1) and survival after pemetrexed-based therapy in non-small cell lung cancer: a North Central Cancer Treatment Group-based exploratory study.

Journal Of Thoracic Oncology : Official Publication Of The International Association For The Study Of Lung Cancer

Adjei, Araba A AA; Salavaggione, Oreste E OE; Mandrekar, Sumithra J SJ; Dy, Grace K GK; Ziegler, Katie L Allen KL; Endo, Chiaki C; Molina, Julian R JR; Schild, Steven E SE; Adjei, Alex A AA

Publication Date: 2010-09

Variant appearance in text: rs1051298

PubMed Link: 20651609

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Phase II trial of pemetrexed plus bevacizumab for second-line therapy of patients with advanced non-small-cell lung cancer: NCCTG and SWOG study N0426.

Journal Of Clinical Oncology : Official Journal Of The American Society Of Clinical Oncology

Adjei, Alex A AA; Mandrekar, Sumithra J SJ; Dy, Grace K GK; Molina, Julian R JR; Adjei, Araba A AA; Gandara, David R DR; Ziegler, Katie L Allen KL; Stella, Philip J PJ; Rowland, Kendrith M KM; Schild, Steven E SE; Zinner, Ralph G RG

Publication Date: 2010-02-01

Variant appearance in text: rs1051298

PubMed Link: 19841321

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Candidate gene and locus analysis of myopia.

Molecular Vision

Mutti, Donald O DO; Cooper, Margaret E ME; O'Brien, Sarah S; Jones, Lisa A LA; Marazita, Mary L ML; Murray, Jeffrey C JC; Zadnik, Karla K

Publication Date: 2007-06-28

Variant appearance in text: rs1051298

PubMed Link: 17653045

Variant Present in the following documents:

• Main text
• mv-v13-1012.pdf

View BVdb publication page

---