Publications:

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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: rs4150360

PubMed Link: 36991000

Variant Present in the following documents:

• 41467_2023_37221_MOESM5_ESM.xlsx, sheet 3

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Molecular Epidemiology in Amerindians of the Brazilian Amazon Reveals New Genetic Variants in DNA Repair Genes.

Genes

Cohen-Paes, Amanda de Nazaré AN; de Alcântara, Angélica Leite AL; Moreira, Fabiano Cordeiro FC; Fernandes, Marianne Rodrigues MR; Pantoja, Karla Beatriz Cardias Cereja KBCC; Carvalho, Darlen Cardoso de DC; Guerreiro, João Farias JF; Ribeiro-Dos-Santos, Ândrea Â; Santos, Sidney Emanuel Batista Dos SEBD; Assumpção, Paulo Pimentel de PP; Santos, Ney Pereira Carneiro Dos NPCD

Publication Date: 2022-10-15

Variant appearance in text: rs4150360

PubMed Link: 36292754

Variant Present in the following documents:

• genes-13-01869.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: rs4150360

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2

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A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Human Genome Variation

Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-09-08

Variant appearance in text: rs4150360

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM4_ESM.xlsx, sheet 2

View BVdb publication page

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Polymorphisms in ERCC4 and ERCC5 and risk of cancers: Systematic research synopsis, meta-analysis, and epidemiological evidence.

Frontiers In Oncology

Zuo, Chunjian C; Lv, Xiaolong X; Liu, Tianyu T; Yang, Lei L; Yang, Zelin Z; Yu, Cao C; Chen, Huanwen H

Publication Date: 2022

Variant appearance in text: rs4150360

PubMed Link: 36033436

Variant Present in the following documents:

• Table_3.pdf

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Haplotypes of single cancer driver genes and their local ancestry in a highly admixed long-lived population of Northeast Brazil.

Genetics And Molecular Biology

Galisa, Steffany Larissa Galdino SLG; Jacob, Priscila Lima PL; Farias, Allysson Allan de AA; Lemes, Renan Barbosa RB; Alves, Leandro Ucela LU; Nóbrega, Júlia Cristina Leite JCL; Zatz, Mayana M; Santos, Silvana S; Weller, Mathias M

Publication Date: 2022

Variant appearance in text: rs4150360

PubMed Link: 35112701

Variant Present in the following documents:

• Main text
• 1415-4757-GMB-45-1-e20210172-s6.pdf
• 1415-4757-GMB-45-1-e20210172-s4.pdf
• 1415-4757-GMB-45-1-e20210172.pdf

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Haplotypes of single cancer driver genes and their local ancestry in a highly admixed long-lived population of Northeast Brazil.

Genetics And Molecular Biology

Galisa, Steffany Larissa Galdino SLG; Jacob, Priscila Lima PL; Farias, Allysson Allan de AA; Lemes, Renan Barbosa RB; Alves, Leandro Ucela LU; Nóbrega, Júlia Cristina Leite JCL; Zatz, Mayana M; Santos, Silvana S; Weller, Mathias M

Publication Date: 2022

Variant appearance in text: rs4150360

PubMed Link: 35112701

Variant Present in the following documents:

• Main text
• 1415-4757-GMB-45-1-e20210172-s6.pdf
• 1415-4757-GMB-45-1-e20210172-s4.pdf
• 1415-4757-GMB-45-1-e20210172.pdf

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A deep analysis using panel-based next-generation sequencing in an Ecuadorian pediatric patient with anaplastic astrocytoma: a case report.

Journal Of Medical Case Reports

García-Cárdenas, Jennyfer M JM; Zambrano, Ana Karina AK; Guevara-Ramírez, Patricia P; Guerrero, Santiago S; Runruil, Gabriel G; López-Cortés, Andrés A; Torres-Yaguana, Jorge P JP; Armendáriz-Castillo, Isaac I; Pérez-Villa, Andy A; Yumiceba, Verónica V; Leone, Paola E PE; Paz-Y-Miño, César C

Publication Date: 2020-08-31

Variant appearance in text: ERCC5: 2879+14C>T

PubMed Link: 32867815

Variant Present in the following documents:

• 13256_2020_2451_MOESM1_ESM.xlsx, sheet 1

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: BIVM-ERCC5: 4241+14C>T

PubMed Link: 32277576

Variant Present in the following documents:

• JCMM-24-4931-s010.xlsx, sheet 1

View BVdb publication page

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PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations.

Genome Biology

Zhang, Chao C; Gao, Yang Y; Ning, Zhilin Z; Lu, Yan Y; Zhang, Xiaoxi X; Liu, Jiaojiao J; Xie, Bo B; Xue, Zhe Z; Wang, Xiaoji X; Yuan, Kai K; Ge, Xueling X; Pan, Yuwen Y; Liu, Chang C; Tian, Lei L; Wang, Yuchen Y; Lu, Dongsheng D; Hoh, Boon-Peng BP; Xu, Shuhua S

Publication Date: 2019-10-22

Variant appearance in text: ERCC5: 2879+14C>T; rs4150360

PubMed Link: 31640808

Variant Present in the following documents:

• 13059_2019_1838_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Identification of novel compound heterozygous SPG7 mutations-related hereditary spastic paraplegia in a Chinese family: a case report.

Bmc Neurology

Zhang, Xiaoqian X; Zhang, Lei L; Wu, Yanqing Y; Li, Gang G; Chen, Shengcai S; Xia, Yuanpeng Y; Li, Hongge H

Publication Date: 2018-11-29

Variant appearance in text: rs4150360

PubMed Link: 30497413

Variant Present in the following documents:

• 12883_2018_1199_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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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: ERCC5: 2879+14C>T; rs4150360

PubMed Link: 30319441

Variant Present in the following documents:

• Table_6.xlsx, sheet 1

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Single nucleotide polymorphisms of nucleotide excision repair pathway are significantly associated with outcomes of platinum-based chemotherapy in lung cancer.

Scientific Reports

Song, Xiao X; Wang, Shiming S; Hong, Xuan X; Li, Xiaoying X; Zhao, Xueying X; Huai, Cong C; Chen, Hongyan H; Gao, Zhiqiang Z; Qian, Ji J; Wang, Jiucun J; Han, Baohui B; Bai, Chunxue C; Li, Qiang Q; Wu, Junjie J; Lu, Daru D

Publication Date: 2017-09-18

Variant appearance in text: rs4150360

PubMed Link: 28924235

Variant Present in the following documents:

• Main text
• 41598_2017_Article_8257.pdf

View BVdb publication page

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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: rs4150360

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

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Conditionally reprogrammed normal and primary tumor prostate epithelial cells: a novel patient-derived cell model for studies of human prostate cancer.

Oncotarget

Timofeeva, Olga A OA; Palechor-Ceron, Nancy N; Li, Guanglei G; Yuan, Hang H; Krawczyk, Ewa E; Zhong, Xiaogang X; Liu, Geng G; Upadhyay, Geeta G; Dakic, Aleksandra A; Yu, Songtao S; Fang, Shuang S; Choudhury, Sujata S; Zhang, Xueping X; Ju, Andrew A; Lee, Myeong-Seon MS; Dan, Han C HC; Ji, Youngmi Y; Hou, Yong Y; Zheng, Yun-Ling YL; Albanese, Chris C; Rhim, Johng J; Schlegel, Richard R; Dritschilo, Anatoly A; Liu, Xuefeng X

Publication Date: 2017-04-04

Variant appearance in text: rs4150360

PubMed Link: 28009986

Variant Present in the following documents:

• oncotarget-08-22741-s003.xlsx, sheet 2

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Polymorphisms in DNA repair and oxidative stress genes associated with pre-treatment cognitive function in breast cancer survivors: an exploratory study.

Springerplus

Koleck, Theresa A TA; Bender, Catherine M CM; Sereika, Susan M SM; Brufsky, Adam M AM; Lembersky, Barry C BC; McAuliffe, Priscilla F PF; Puhalla, Shannon L SL; Rastogi, Priya P; Conley, Yvette P YP

Publication Date: 2016

Variant appearance in text: rs4150360

PubMed Link: 27099827

Variant Present in the following documents:

• Main text
• 40064_2016_Article_2061.pdf

View BVdb publication page

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Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells.

Stem Cell Reports

Garate, Zita Z; Quintana-Bustamante, Oscar O; Crane, Ana M AM; Olivier, Emmanuel E; Poirot, Laurent L; Galetto, Roman R; Kosinski, Penelope P; Hill, Collin C; Kung, Charles C; Agirre, Xabi X; Orman, Israel I; Cerrato, Laura L; Alberquilla, Omaira O; Rodriguez-Fornes, Fatima F; Fusaki, Noemi N; Garcia-Sanchez, Felix F; Maia, Tabita M TM; Ribeiro, Maria L ML; Sevilla, Julian J; Prosper, Felipe F; Jin, Shengfang S; Mountford, Joanne J; Guenechea, Guillermo G; Gouble, Agnes A; Bueren, Juan A JA; Davis, Brian R BR; Segovia, Jose C JC

Publication Date: 2015-12-08

Variant appearance in text: rs4150360

PubMed Link: 26549847

Variant Present in the following documents:

• mmc3.xlsx, sheet 3
• mmc3.xlsx, sheet 2
• mmc3.xlsx, sheet 1

View BVdb publication page

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Polymorphisms in nucleotide excision repair genes and susceptibility to colorectal cancer in the Polish population.

Molecular Biology Reports

Paszkowska-Szczur, Katarzyna K; Scott, Rodney J RJ; Górski, Bohdan B; Cybulski, Cezary C; Kurzawski, Grzegorz G; Dymerska, Dagmara D; Gupta, Satish S; van de Wetering, Thierry T; Masojć, Bartłomiej B; Kashyap, Aniruddh A; Gapska, Paulina P; Gromowski, Tomasz T; Kładny, Józef J; Lubiński, Jan J; Dębniak, Tadeusz T

Publication Date: 2015-03

Variant appearance in text: rs4150360

PubMed Link: 25391773

Variant Present in the following documents:

• Main text
• 11033_2014_Article_3824.pdf

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Single nucleotide polymorphisms in nucleotide excision repair genes, cancer treatment, and head and neck cancer survival.

Cancer Causes & Control : Ccc

Wyss, Annah B AB; Weissler, Mark C MC; Avery, Christy L CL; Herring, Amy H AH; Bensen, Jeannette T JT; Barnholtz-Sloan, Jill S JS; Funkhouser, William K WK; Olshan, Andrew F AF

Publication Date: 2014-04

Variant appearance in text: rs4150360

PubMed Link: 24487794

Variant Present in the following documents:

• Main text

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Single-nucleotide polymorphisms in nucleotide excision repair genes, cigarette smoking, and the risk of head and neck cancer.

Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology

Wyss, Annah B AB; Herring, Amy H AH; Avery, Christy L CL; Weissler, Mark C MC; Bensen, Jeannette T JT; Barnholtz-Sloan, Jill S JS; Funkhouser, William K WK; Olshan, Andrew F AF

Publication Date: 2013-08

Variant appearance in text: rs4150360

PubMed Link: 23720401

Variant Present in the following documents:

• Main text

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Nucleotide excision repair genes and risk of lung cancer among San Francisco Bay Area Latinos and African Americans.

International Journal Of Cancer

Chang, Jeffrey S JS; Wrensch, Margaret R MR; Hansen, Helen M HM; Sison, Jennette D JD; Aldrich, Melinda C MC; Quesenberry, Charles P CP; Seldin, Michael F MF; Kelsey, Karl T KT; Kittles, Rick A RA; Silva, Gabriel G; Wiencke, John K JK

Publication Date: 2008-11-01

Variant appearance in text: rs4150360

PubMed Link: 18709642

Variant Present in the following documents:

• Main text

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