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: rs1805407

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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JAK-STAT signaling in inflammatory breast cancer enables chemotherapy-resistant cell states.

Cancer Research

Stevens, Laura E LE; Peluffo, Guillermo G; Qiu, Xintao X; Temko, Daniel D; Fassl, Anne A; Li, Zheqi Z; Trinh, Anne A; Seehawer, Marco M; Jovanovic, Bojana B; Aleckovic, Masa M; Wilde, Callahan M CM; Geck, Renee C RC; Shu, Shaokun S; Kingston, Natalie L NL; Harper, Nicholas W NW; Almendro, Vanessa V; Pyke, Alanna L AL; Egri, Shawn B SB; Papanastasiou, Malvina M; Clement, Kendell K; Zhou, Ningxuan N; Walker, Sarah S; Salas, Jacqueline J; Park, So Yeon SY; Frank, David A DA; Meissner, Alexander A; Jaffe, Jacob D JD; Sicinski, Piotr P; Toker, Alex A; Michor, Franziska F; Long, Henry W HW; Overmoyer, Beth A BA; Polyak, Kornelia K

Publication Date: 2022-11-21

Variant appearance in text: PARP1: 286+82A>G; rs1805407

PubMed Link: 36409824

Variant Present in the following documents:

• can-22-0423_supplementary_table_s3_suppst3.xlsx, sheet 1

View BVdb publication page

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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: rs1805407

PubMed Link: 36292754

Variant Present in the following documents:

• genes-13-01869.pdf

View BVdb publication page

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Essential Regression: A generalizable framework for inferring causal latent factors from multi-omic datasets.

Patterns (New York, N.Y.)

Bing, Xin X; Lovelace, Tyler T; Bunea, Florentina F; Wegkamp, Marten M; Kasturi, Sudhir Pai SP; Singh, Harinder H; Benos, Panayiotis V PV; Das, Jishnu J

Publication Date: 2022-05-13

Variant appearance in text: rs1805407

PubMed Link: 35607614

Variant Present in the following documents:

• mmc2.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: PARP1: 286+82A>G; rs1805407

PubMed Link: 34054912

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Case report for an adolescent with germline RET mutation and alveolar rhabdomyosarcoma.

Cold Spring Harbor Molecular Case Studies

Crawford, Kenneth A KA; Berlow, Noah E NE; Tsay, Jennifer J; Lazich, Michael M; Mancini, Maria M; Noakes, Christopher C; Huang, Tannie T; Keller, Charles C

Publication Date: 2020-06

Variant appearance in text: rs1805407

PubMed Link: 32532875

Variant Present in the following documents:

• supp_mcs.a004853_Supplemental_Table1.xlsx, sheet 1

View BVdb publication page

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CausalMGM: an interactive web-based causal discovery tool.

Nucleic Acids Research

Ge, Xiaoyu X; Raghu, Vineet K VK; Chrysanthis, Panos K PK; Benos, Panayiotis V PV

Publication Date: 2020-07-02

Variant appearance in text: rs1805407

PubMed Link: 32392295

Variant Present in the following documents:

• gkaa350.pdf

View BVdb publication page

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Association of PARP1 polymorphisms with response to chemotherapy in patients with high-risk neuroblastoma.

Journal Of Cellular And Molecular Medicine

Avitabile, Marianna M; Lasorsa, Vito Alessandro VA; Cantalupo, Sueva S; Cardinale, Antonella A; Cimmino, Flora F; Montella, Annalaura A; Capasso, Dalila D; Haupt, Riccardo R; Amoroso, Loredana L; Garaventa, Alberto A; Quattrone, Alessandro A; Corrias, Maria Valeria MV; Iolascon, Achille A; Capasso, Mario M

Publication Date: 2020-04

Variant appearance in text: rs1805407

PubMed Link: 32103589

Variant Present in the following documents:

• JCMM-24-4072.pdf

View BVdb publication page

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An 11-bp Indel Polymorphism within the CSN1S1 Gene Is Associated with Milk Performance and Body Measurement Traits in Chinese Goats.

Animals : An Open Access Journal From Mdpi

Zhang, Yanghai Y; Wang, Ke K; Liu, Jinwang J; Zhu, Haijing H; Qu, Lei L; Chen, Hong H; Lan, Xianyong X; Pan, Chuanying C; Song, Xiaoyue X

Publication Date: 2019-12-11

Variant appearance in text: rs1805407

PubMed Link: 31835668

Variant Present in the following documents:

• animals-09-01114.pdf

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PARP Inhibitor PJ34 Protects Mitochondria and Induces DNA-Damage Mediated Apoptosis in Combination With Cisplatin or Temozolomide in B16F10 Melanoma Cells.

Frontiers In Physiology

Cseh, Anna Maria AM; Fabian, Zsolt Z; Quintana-Cabrera, Ruben R; Szabo, Aliz A; Eros, Krisztian K; Soriano, Maria Eugenia ME; Gallyas, Ferenc F; Scorrano, Luca L; Sumegi, Balazs B

Publication Date: 2019

Variant appearance in text: rs1805407

PubMed Link: 31133874

Variant Present in the following documents:

• Main text
• fphys-10-00538.pdf

View BVdb publication page

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PARP1 rs1805407 Increases Sensitivity to PARP1 Inhibitors in Cancer Cells Suggesting an Improved Therapeutic Strategy.

Scientific Reports

Abecassis, Irina I; Sedgewick, Andrew J AJ; Romkes, Marjorie M; Buch, Shama S; Nukui, Tomoko T; Kapetanaki, Maria G MG; Vogt, Andreas A; Kirkwood, John M JM; Benos, Panayiotis V PV; Tawbi, Hussein H

Publication Date: 2019-03-01

Variant appearance in text: rs1805407

PubMed Link: 30824778

Variant Present in the following documents:

• Main text
• 41598_2019_39542_MOESM1_ESM.pdf
• 41598_2019_Article_39542.pdf

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: PARP1: 286+82A>G; rs1805407

PubMed Link: 30319441

Variant Present in the following documents:

• Table_5.xlsx, sheet 1

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: rs1805407

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

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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: rs1805407

PubMed Link: 28499365

Variant Present in the following documents:

• 12885_2017_3314_MOESM1_ESM.xls, sheet 1

View BVdb publication page

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Exome sequencing of case-unaffected-parents trios reveals recessive and de novo genetic variants in sporadic ALS.

Scientific Reports

Steinberg, Karyn Meltz KM; Yu, Bing B; Koboldt, Daniel C DC; Mardis, Elaine R ER; Pamphlett, Roger R

Publication Date: 2015-03-16

Variant appearance in text: rs1805407

PubMed Link: 25773295

Variant Present in the following documents:

• srep09124-s3.xls, sheet 1

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Whole exome sequencing of a single osteosarcoma case--integrative analysis with whole transcriptome RNA-seq data.

Human Genomics

Reimann, Ene E; Kõks, Sulev S; Ho, Xuan Dung XD; Maasalu, Katre K; Märtson, Aare A

Publication Date: 2014-12-11

Variant appearance in text: rs1805407

PubMed Link: 25496518

Variant Present in the following documents:

• 40246_2014_20_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Identification of novel SNPs in glioblastoma using targeted resequencing.

Plos One

Keller, Andreas A; Harz, Christian C; Matzas, Mark M; Meder, Benjamin B; Katus, Hugo A HA; Ludwig, Nicole N; Fischer, Ulrike U; Meese, Eckart E

Publication Date: 2011

Variant appearance in text: rs1805407

PubMed Link: 21695249

Variant Present in the following documents:

• pone.0018158.s001.xls, sheet 4
• pone.0018158.s001.xls, sheet 2

View BVdb publication page

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