Publications:

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NOTCH2NLC GGC repeat expansion causes retinal pathology with intranuclear inclusions throughout the retina and causes visual impairment.

Acta Neuropathologica Communications

Sone, Jun J; Ueno, Shinji S; Akagi, Akio A; Miyahara, Hiroaki H; Tamai, Chisato C; Riku, Yuichi Y; Yabata, Hiroyuki H; Koizumi, Ryuichi R; Hattori, Tomohiro T; Hirose, Hiroshi H; Koyanagi, Yoshito Y; Kobayashi, Rei R; Okada, Hisashi H; Kishimoto, Yoshiyuki Y; Hashizume, Yoshio Y; Sobue, Gen G; Yoshida, Mari M; Iwasaki, Yasushi Y

Publication Date: 2023-05-02

Variant appearance in text: ERCC6: 3689G>C; Arg1230Pro; rs4253211

PubMed Link: 37131242

Variant Present in the following documents:

• 40478_2023_1564_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Circulating messenger RNA variants as a potential biomarker for surveillance of hepatocellular carcinoma.

Frontiers In Oncology

Block, Timothy T; Zezulinski, Daniel D; Kaplan, David E DE; Lu, Jingqiao J; Zanine, Samantha S; Zhan, Tingting T; Doria, Cataldo C; Sayeed, Aejaz A

Publication Date: 2022

Variant appearance in text: rs4253211

PubMed Link: 36582804

Variant Present in the following documents:

• Table_6.xlsx, sheet 1

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: ERCC6: 3689G>C; R1230P; rs4253211

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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Genetic susceptibility of bladder cancer in the Lebanese population.

Bmc Medical Genomics

Kourie, Hampig Raphael HR; Succar, Bahaa B; Chouery, Eliane E; Mehawej, Cybel C; Ahmadieh, Nizar N; Zouein, Joseph J; Mardirossian, Avedis A; Jalkh, Nadine N; Sleilaty, Ghassan G; Kattan, Joseph J; Nemr, Elie E

Publication Date: 2022-10-17

Variant appearance in text: ERCC6: 3689G>C; Arg1230Pro; rs4253211

PubMed Link: 36253817

Variant Present in the following documents:

• 12920_2022_1372_MOESM1_ESM.xlsx, sheet 1
• 12920_2022_1372_MOESM2_ESM.xlsx, sheet 1

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: ERCC6: R1230P; rs4253211

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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The current state of genetic risk models for the development of kidney cancer: a review and validation.

Bju International

Harrison, Hannah H; Li, Nicole N; Saunders, Catherine L CL; Rossi, Sabrina H SH; Dennis, Joe J; Griffin, Simon J SJ; Stewart, Grant D GD; Usher-Smith, Juliet A JA

Publication Date: 2022-11

Variant appearance in text: ERCC6: Arg1230Pro; rs4253211

PubMed Link: 35460182

Variant Present in the following documents:

• BJU-130-550-s004.pdf

View BVdb publication page

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Multiomics Landscape Uncovers the Molecular Mechanism of the Malignant Evolution of Lung Adenocarcinoma Cells to Chronic Low Dose Cadmium Exposure.

Frontiers In Oncology

Dai, Shun-Dong SD; Wang, Shuang S; Qin, Ya-Nan YN; Zhu, Jin-Chao JC

Publication Date: 2021

Variant appearance in text: ERCC6: R1230P

PubMed Link: 34858801

Variant Present in the following documents:

• Table_1.xls, sheet 1

View BVdb publication page

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A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.

Scientific Reports

Magraner-Pardo, Lorena L; Laskowski, Roman A RA; Pons, Tirso T; Thornton, Janet M JM

Publication Date: 2021-07-12

Variant appearance in text: ERCC6: 3689G>C; Arg1230Pro; rs4253211

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 3
• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 6

View BVdb publication page

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Improving the efficacy of exome sequencing at a quaternary care referral centre: novel mutations, clinical presentations and diagnostic challenges in rare neurogenetic diseases.

Journal Of Neurology, Neurosurgery, And Psychiatry

Grunseich, Christopher C; Sarkar, Nathan N; Lu, Joyce J; Owen, Mallory M; Schindler, Alice A; Calabresi, Peter A PA; Sumner, Charlotte J CJ; Roda, Ricardo H RH; Chaudhry, Vinay V; Lloyd, Thomas E TE; Crawford, Thomas O TO; Subramony, S H SH; Oh, Shin J SJ; Richardson, Perry P; Tanji, Kurenai K; Kwan, Justin Y JY; Fischbeck, Kenneth H KH; Mankodi, Ami A

Publication Date: 2021-11

Variant appearance in text: rs4253211

PubMed Link: 34103343

Variant Present in the following documents:

• jnnp-2020-325437supp002.pdf

View BVdb publication page

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Improving the efficacy of exome sequencing at a quaternary care referral centre: novel mutations, clinical presentations and diagnostic challenges in rare neurogenetic diseases.

Journal Of Neurology, Neurosurgery, And Psychiatry

Grunseich, Christopher C; Sarkar, Nathan N; Lu, Joyce J; Owen, Mallory M; Schindler, Alice A; Calabresi, Peter A PA; Sumner, Charlotte J CJ; Roda, Ricardo H RH; Chaudhry, Vinay V; Lloyd, Thomas E TE; Crawford, Thomas O TO; Subramony, S H SH; Oh, Shin J SJ; Richardson, Perry P; Tanji, Kurenai K; Kwan, Justin Y JY; Fischbeck, Kenneth H KH; Mankodi, Ami A

Publication Date: 2021-11

Variant appearance in text: rs4253211

PubMed Link: 34103343

Variant Present in the following documents:

• jnnp-2020-325437supp002.pdf

View BVdb publication page

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Advanced bioinformatic analysis and pathway prediction of NSCLC cells upon cisplatin resistance.

Scientific Reports

Hossian, A K M Nawshad AKMN; Zahra, Fatema Tuz FT; Poudel, Sagun S; Abshire, Camille F CF; Polk, Paula P; Garai, Jone J; Zabaleta, Jovanny J; Mikelis, Constantinos M CM; Mattheolabakis, George G

Publication Date: 2021-03-22

Variant appearance in text: ERCC6: 3689G>C; Arg1230Pro

PubMed Link: 33753779

Variant Present in the following documents:

• 41598_2021_85930_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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High throughput profiling of undifferentiated pleomorphic sarcomas identifies two main subgroups with distinct immune profile, clinical outcome and sensitivity to targeted therapies.

Ebiomedicine

Toulmonde, Maud M; Lucchesi, Carlo C; Verbeke, Stéphanie S; Crombe, Amandine A; Adam, Julien J; Geneste, Damien D; Chaire, Vanessa V; Laroche-Clary, Audrey A; Perret, Raul R; Bertucci, François F; Bertolo, Frederic F; Bianchini, Laurence L; Dadone-Montaudie, Bérengère B; Hembrough, Todd T; Sweet, Steve S; Kim, Yeoun Jin YJ; Cecchi, Fabiola F; Le Loarer, François F; Italiano, Antoine A

Publication Date: 2020-12

Variant appearance in text: ERCC6: 3689G>C; R1230P; rs4253211

PubMed Link: 33254023

Variant Present in the following documents:

• mmc5.xlsx, sheet 1

View BVdb publication page

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Somatic mutations in the DNA repairome in prostate cancers in African Americans and Caucasians.

Oncogene

Yadav, Santosh S; Anbalagan, Muralidharan M; Baddoo, Melody M; Chellamuthu, Vinodh K VK; Mukhopadhyay, Sudurika S; Woods, Carol C; Jiang, Wei W; Moroz, Krzysztof K; Flemington, Erik K EK; Makridakis, Nick N

Publication Date: 2020-05

Variant appearance in text: ERCC6: R1230P; rs4253211

PubMed Link: 32300177

Variant Present in the following documents:

• 41388_2020_1280_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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YAP1 mediates survival of ALK-rearranged lung cancer cells treated with alectinib via pro-apoptotic protein regulation.

Nature Communications

Tsuji, Takahiro T; Ozasa, Hiroaki H; Aoki, Wataru W; Aburaya, Shunsuke S; Yamamoto Funazo, Tomoko T; Furugaki, Koh K; Yoshimura, Yasushi Y; Yamazoe, Masatoshi M; Ajimizu, Hitomi H; Yasuda, Yuto Y; Nomizo, Takashi T; Yoshida, Hironori H; Sakamori, Yuichi Y; Wake, Hiroaki H; Ueda, Mitsuyoshi M; Kim, Young Hak YH; Hirai, Toyohiro T

Publication Date: 2020-01-03

Variant appearance in text: ERCC6: R1230P

PubMed Link: 31900393

Variant Present in the following documents:

• 41467_2019_13771_MOESM5_ESM.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: ERCC6: 3689G>C; Arg1230Pro; rs4253211

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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Thyroid Cancer: The Quest for Genetic Susceptibility Involving DNA Repair Genes.

Genes

Santos, Luís S LS; Gomes, Bruno Costa BC; Bastos, Hélder N HN; Gil, Octávia M OM; Azevedo, Ana Paula AP; Ferreira, Teresa C TC; Limbert, Edward E; Silva, Susana N SN; Rueff, José J

Publication Date: 2019-08-01

Variant appearance in text: ERCC6: Arg1230Pro; rs4253211

PubMed Link: 31374908

Variant Present in the following documents:

• Main text
• genes-10-00586.pdf

View BVdb publication page

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An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.

Database : The Journal Of Biological Databases And Curation

Famiglietti, M L ML; Estreicher, A A; Breuza, L L; Poux, S S; Redaschi, N N; Xenarios, I I; Bridge, A A; ,

Publication Date: 2019-01-01

Variant appearance in text: ERCC6: 3689G>C; Arg1230Pro

PubMed Link: 30937429

Variant Present in the following documents:

• famiglietti_supplementarytables1_rev_baz040.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: ERCC6: R1230P; rs4253211

PubMed Link: 30894629

Variant Present in the following documents:

• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 2
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.

Cell Death & Disease

Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D

Publication Date: 2019-02-27

Variant appearance in text: rs4253211

PubMed Link: 30814510

Variant Present in the following documents:

• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 1
• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 3
• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 2

View BVdb publication page

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Multiple genetic mutations caused by NKX6.3 depletion contribute to gastric tumorigenesis.

Scientific Reports

Yoon, Jung Hwan JH; Kim, Olga O; Eun, Jung Woo JW; Choi, Sung Sook SS; Ashktorab, Hassan H; Smoot, Duane T DT; Nam, Suk Woo SW; Park, Won Sang WS

Publication Date: 2018-12-04

Variant appearance in text: ERCC6: R1230P; rs4253211

PubMed Link: 30514953

Variant Present in the following documents:

• 41598_2018_35733_MOESM2_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: rs4253211

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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X-linked ADGRG2 mutation and obstructive azoospermia in a large Pakistani family.

Scientific Reports

Khan, Muhammad Jaseem MJ; Pollock, Nijole N; Jiang, Huaiyang H; Castro, Carlos C; Nazli, Rubina R; Ahmed, Jawad J; Basit, Sulman S; Rajkovic, Aleksandar A; Yatsenko, Alexander N AN

Publication Date: 2018-11-02

Variant appearance in text: ERCC6: R1230P; rs4253211

PubMed Link: 30389958

Variant Present in the following documents:

• 41598_2018_34262_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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Oral Cavity Squamous Cell Carcinoma Xenografts Retain Complex Genotypes and Intertumor Molecular Heterogeneity.

Cell Reports

Campbell, Katie M KM; Lin, Tianxiang T; Zolkind, Paul P; Barnell, Erica K EK; Skidmore, Zachary L ZL; Winkler, Ashley E AE; Law, Jonathan H JH; Mardis, Elaine R ER; Wartman, Lukas D LD; Adkins, Douglas R DR; Chernock, Rebecca D RD; Griffith, Malachi M; Uppaluri, Ravindra R; Griffith, Obi L OL

Publication Date: 2018-08-21

Variant appearance in text: rs4253211

PubMed Link: 30134176

Variant Present in the following documents:

• NIHMS1520774-supplement-Table_S2.xlsx, sheet 1

View BVdb publication page

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Genetic and transcriptional evolution alters cancer cell line drug response.

Nature

Ben-David, Uri U; Siranosian, Benjamin B; Ha, Gavin G; Tang, Helen H; Oren, Yaara Y; Hinohara, Kunihiko K; Strathdee, Craig A CA; Dempster, Joshua J; Lyons, Nicholas J NJ; Burns, Robert R; Nag, Anwesha A; Kugener, Guillaume G; Cimini, Beth B; Tsvetkov, Peter P; Maruvka, Yosef E YE; O'Rourke, Ryan R; Garrity, Anthony A; Tubelli, Andrew A AA; Bandopadhayay, Pratiti P; Tsherniak, Aviad A; Vazquez, Francisca F; Wong, Bang B; Birger, Chet C; Ghandi, Mahmoud M; Thorner, Aaron R AR; Bittker, Joshua A JA; Meyerson, Matthew M; Getz, Gad G; Beroukhim, Rameen R; Golub, Todd R TR

Publication Date: 2018-08

Variant appearance in text: ERCC6: 3689G>C; R1230P; rs4253211

PubMed Link: 30089904

Variant Present in the following documents:

• NIHMS977514-supplement-Sup_Table_5.xlsx, sheet 1
• NIHMS977514-supplement-Sup_Table_17.xlsx, sheet 1

View BVdb publication page

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Novel genetic associations for blood pressure identified via gene-alcohol interaction in up to 570K individuals across multiple ancestries.

Plos One

Feitosa, Mary F MF; Kraja, Aldi T AT; Chasman, Daniel I DI; Sung, Yun J YJ; Winkler, Thomas W TW; Ntalla, Ioanna I; Guo, Xiuqing X; Franceschini, Nora N; Cheng, Ching-Yu CY; Sim, Xueling X; Vojinovic, Dina D; Marten, Jonathan J; Musani, Solomon K SK; Li, Changwei C; Bentley, Amy R AR; Brown, Michael R MR; Schwander, Karen K; Richard, Melissa A MA; Noordam, Raymond R; Aschard, Hugues H; Bartz, Traci M TM; Bielak, Lawrence F LF; Dorajoo, Rajkumar R; Fisher, Virginia V; Hartwig, Fernando P FP; Horimoto, Andrea R V R ARVR; Lohman, Kurt K KK; Manning, Alisa K AK; Rankinen, Tuomo T; Smith, Albert V AV; Tajuddin, Salman M SM; Wojczynski, Mary K MK; Alver, Maris M; Boissel, Mathilde M; Cai, Qiuyin Q; Campbell, Archie A; Chai, Jin Fang JF; Chen, Xu X; Divers, Jasmin J; Gao, Chuan C; Goel, Anuj A; Hagemeijer, Yanick Y; Harris, Sarah E SE; He, Meian M; Hsu, Fang-Chi FC; Jackson, Anne U AU; Kähönen, Mika M; Kasturiratne, Anuradhani A; Komulainen, Pirjo P; Kühnel, Brigitte B; Laguzzi, Federica F; Luan, Jian'an J; Matoba, Nana N; Nolte, Ilja M IM; Padmanabhan, Sandosh S; Riaz, Muhammad M; Rueedi, Rico R; Robino, Antonietta A; Said, M Abdullah MA; Scott, Robert A RA; Sofer, Tamar T; Stančáková, Alena A; Takeuchi, Fumihiko F; Tayo, Bamidele O BO; van der Most, Peter J PJ; Varga, Tibor V TV; Vitart, Veronique V; Wang, Yajuan Y; Ware, Erin B EB; Warren, Helen R HR; Weiss, Stefan S; Wen, Wanqing W; Yanek, Lisa R LR; Zhang, Weihua W; Zhao, Jing Hua JH; Afaq, Saima S; Amin, Najaf N; Amini, Marzyeh M; Arking, Dan E DE; Aung, Tin T; Boerwinkle, Eric E; Borecki, Ingrid I; Broeckel, Ulrich U; Brown, Morris M; Brumat, Marco M; Burke, Gregory L GL; Canouil, Mickaël M; Chakravarti, Aravinda A; Charumathi, Sabanayagam S; Ida Chen, Yii-Der YD; Connell, John M JM; Correa, Adolfo A; de Las Fuentes, Lisa L; de Mutsert, Renée R; de Silva, H Janaka HJ; Deng, Xuan X; Ding, Jingzhong J; Duan, Qing Q; Eaton, Charles B CB; Ehret, Georg G; Eppinga, Ruben N RN; Evangelou, Evangelos E; Faul, Jessica D JD; Felix, Stephan B SB; Forouhi, Nita G NG; Forrester, Terrence T; Franco, Oscar H OH; Friedlander, Yechiel Y; Gandin, Ilaria I; Gao, He H; Ghanbari, Mohsen M; Gigante, Bruna B; Gu, C Charles CC; Gu, Dongfeng D; Hagenaars, Saskia P SP; Hallmans, Göran G; Harris, Tamara B TB; He, Jiang J; Heikkinen, Sami S; Heng, Chew-Kiat CK; Hirata, Makoto M; Howard, Barbara V BV; Ikram, M Arfan MA; , ; John, Ulrich U; Katsuya, Tomohiro T; Khor, Chiea Chuen CC; Kilpeläinen, Tuomas O TO; Koh, Woon-Puay WP; Krieger, José E JE; Kritchevsky, Stephen B SB; Kubo, Michiaki M; Kuusisto, Johanna J; Lakka, Timo A TA; Langefeld, Carl D CD; Langenberg, Claudia C; Launer, Lenore J LJ; Lehne, Benjamin B; Lewis, Cora E CE; Li, Yize Y; Lin, Shiow S; Liu, Jianjun J; Liu, Jingmin J; Loh, Marie M; Louie, Tin T; Mägi, Reedik R; McKenzie, Colin A CA; Meitinger, Thomas T; Metspalu, Andres A; Milaneschi, Yuri Y; Milani, Lili L; Mohlke, Karen L KL; Momozawa, Yukihide Y; Nalls, Mike A MA; Nelson, Christopher P CP; Sotoodehnia, Nona N; Norris, Jill M JM; O'Connell, Jeff R JR; Palmer, Nicholette D ND; Perls, Thomas T; Pedersen, Nancy L NL; Peters, Annette A; Peyser, Patricia A PA; Poulter, Neil N; Raffel, Leslie J LJ; Raitakari, Olli T OT; Roll, Kathryn K; Rose, Lynda M LM; Rosendaal, Frits R FR; Rotter, Jerome I JI; Schmidt, Carsten O CO; Schreiner, Pamela J PJ; Schupf, Nicole N; Scott, William R WR; Sever, Peter S PS; Shi, Yuan Y; Sidney, Stephen S; Sims, Mario M; Sitlani, Colleen M CM; Smith, Jennifer A JA; Snieder, Harold H; Starr, John M JM; Strauch, Konstantin K; Stringham, Heather M HM; Tan, Nicholas Y Q NYQ; Tang, Hua H; Taylor, Kent D KD; Teo, Yik Ying YY; Tham, Yih Chung YC; Turner, Stephen T ST; Uitterlinden, André G AG; Vollenweider, Peter P; Waldenberger, Melanie M; Wang, Lihua L; Wang, Ya Xing YX; Wei, Wen Bin WB; Williams, Christine C; Yao, Jie J; Yu, Caizheng C; Yuan, Jian-Min JM; Zhao, Wei W; Zonderman, Alan B AB; Becker, Diane M DM; Boehnke, Michael M; Bowden, Donald W DW; Chambers, John C JC; Deary, Ian J IJ; Esko, Tõnu T; Farrall, Martin M; Franks, Paul W PW; Freedman, Barry I BI; Froguel, Philippe P; Gasparini, Paolo P; Gieger, Christian C; Jonas, Jost Bruno JB; Kamatani, Yoichiro Y; Kato, Norihiro N; Kooner, Jaspal S JS; Kutalik, Zoltán Z; Laakso, Markku M; Laurie, Cathy C CC; Leander, Karin K; Lehtimäki, Terho T; Study, Lifelines Cohort LC; Magnusson, Patrik K E PKE; Oldehinkel, Albertine J AJ; Penninx, Brenda W J H BWJH; Polasek, Ozren O; Porteous, David J DJ; Rauramaa, Rainer R; Samani, Nilesh J NJ; Scott, James J; Shu, Xiao-Ou XO; van der Harst, Pim P; Wagenknecht, Lynne E LE; Wareham, Nicholas J NJ; Watkins, Hugh H; Weir, David R DR; Wickremasinghe, Ananda R AR; Wu, Tangchun T; Zheng, Wei W; Bouchard, Claude C; Christensen, Kaare K; Evans, Michele K MK; Gudnason, Vilmundur V; Horta, Bernardo L BL; Kardia, Sharon L R SLR; Liu, Yongmei Y; Pereira, Alexandre C AC; Psaty, Bruce M BM; Ridker, Paul M PM; van Dam, Rob M RM; Gauderman, W James WJ; Zhu, Xiaofeng X; Mook-Kanamori, Dennis O DO; Fornage, Myriam M; Rotimi, Charles N CN; Cupples, L Adrienne LA; Kelly, Tanika N TN; Fox, Ervin R ER; Hayward, Caroline C; van Duijn, Cornelia M CM; Tai, E Shyong ES; Wong, Tien Yin TY; Kooperberg, Charles C; Palmas, Walter W; Rice, Kenneth K; Morrison, Alanna C AC; Elliott, Paul P; Caulfield, Mark J MJ; Munroe, Patricia B PB; Rao, Dabeeru C DC; Province, Michael A MA; Levy, Daniel D

Publication Date: 2018

Variant appearance in text: ERCC6: Arg1230Pro

PubMed Link: 29912962

Variant Present in the following documents:

• Main text

View BVdb publication page

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Validation of CZECANCA (CZEch CAncer paNel for Clinical Application) for targeted NGS-based analysis of hereditary cancer syndromes.

Plos One

Soukupova, Jana J; Zemankova, Petra P; Lhotova, Klara K; Janatova, Marketa M; Borecka, Marianna M; Stolarova, Lenka L; Lhota, Filip F; Foretova, Lenka L; Machackova, Eva E; Stranecky, Viktor V; Tavandzis, Spiros S; Kleiblova, Petra P; Vocka, Michal M; Hartmannova, Hana H; Hodanova, Katerina K; Kmoch, Stanislav S; Kleibl, Zdenek Z

Publication Date: 2018

Variant appearance in text: ERCC6: R1230P

PubMed Link: 29649263

Variant Present in the following documents:

• pone.0195761.s003.xlsx, sheet 1

View BVdb publication page

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Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: ERCC6: 3689G>C; Arg1230Pro

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

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: rs4253211

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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Association of NER pathway gene polymorphisms with susceptibility to laryngeal cancer in a Chinese population.

International Journal Of Clinical And Experimental Pathology

Sun, Yanan Y; Tan, Lijun L; Li, Huijun H; Qin, Xiaowei X; Liu, Jiangtao J

Publication Date: 2015

Variant appearance in text: ERCC6: Arg1230Pro

PubMed Link: 26617899

Variant Present in the following documents:

• Main text

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: ERCC6: R1230P; rs4253211

PubMed Link: 26549847

Variant Present in the following documents:

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

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Dependable and Efficient Clinical Molecular Diagnosis of Chinese RP Patient with Targeted Exon Sequencing.

Plos One

Yang, Liping L; Cui, Hui H; Yin, Xiaobei X; Dou, Hongliang H; Zhao, Lin L; Chen, Ningning N; Zhang, Jinlu J; Zhang, Huirong H; Li, Genlin G; Ma, Zhizhong Z

Publication Date: 2015

Variant appearance in text: ERCC6: 3689G>C; R1230P; rs4253211

PubMed Link: 26496393

Variant Present in the following documents:

• pone.0140684.s004.xlsx, sheet 2
• pone.0140684.s004.xlsx, sheet 4

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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: ERCC6: R1230P

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 1

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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: ERCC6: R1230P; rs4253211

PubMed Link: 25887915

Variant Present in the following documents:

• 12864_2015_1290_MOESM7_ESM.xlsx, sheet 1

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Sporadic hemangioblastomas are characterized by cryptic VHL inactivation.

Acta Neuropathologica Communications

Shankar, Ganesh M GM; Taylor-Weiner, Amaro A; Lelic, Nina N; Jones, Robert T RT; Kim, James C JC; Francis, Joshua M JM; Abedalthagafi, Malak M; Borges, Lawrence F LF; Coumans, Jean-Valery JV; Curry, William T WT; Nahed, Brian V BV; Shin, John H JH; Paek, Sun Ha SH; Park, Sung-Hye SH; Stewart, Chip C; Lawrence, Michael S MS; Cibulskis, Kristian K; Thorner, Aaron R AR; Van Hummelen, Paul P; Stemmer-Rachamimov, Anat O AO; Batchelor, Tracy T TT; Carter, Scott L SL; Hoang, Mai P MP; Santagata, Sandro S; Louis, David N DN; Barker, Fred G FG; Meyerson, Matthew M; Getz, Gad G; Brastianos, Priscilla K PK; Cahill, Daniel P DP

Publication Date: 2014-12-24

Variant appearance in text: ERCC6: 3689G>C; R1230P; rs4253211

PubMed Link: 25589003

Variant Present in the following documents:

• 40478_2014_167_MOESM1_ESM.xlsx, sheet 6

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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: ERCC6: R1230P; rs4253211

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

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Angiomatous meningiomas have a distinct genetic profile with multiple chromosomal polysomies including polysomy of chromosome 5.

Oncotarget

Abedalthagafi, Malak S MS; Merrill, Parker H PH; Bi, Wenya Linda WL; Jones, Robert T RT; Listewnik, Marc L ML; Ramkissoon, Shakti H SH; Thorner, Aaron R AR; Dunn, Ian F IF; Beroukhim, Rameen R; Alexander, Brian M BM; Brastianos, Priscilla K PK; Francis, Joshua M JM; Folkerth, Rebecca D RD; Ligon, Keith L KL; Van Hummelen, Paul P; Ligon, Azra H AH; Santagata, Sandro S

Publication Date: 2014-11-15

Variant appearance in text: ERCC6: 3689G>C; R1230P; rs4253211

PubMed Link: 25347344

Variant Present in the following documents:

• oncotarget-05-10596-s002.xlsx, sheet 4

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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: ERCC6: Arg1230Pro

PubMed Link: 25333361

Variant Present in the following documents:

• pone.0109576.s001.xls, sheet 3

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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: ERCC6: R1230P; rs4253211

PubMed Link: 25032700

Variant Present in the following documents:

• pone.0101670.s004.xlsx, sheet 1

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Integrated mRNA and microRNA transcriptome sequencing characterizes sequence variants and mRNA-microRNA regulatory network in nasopharyngeal carcinoma model systems.

Febs Open Bio

Szeto, Carol Ying-Ying CY; Lin, Chi Ho CH; Choi, Siu Chung SC; Yip, Timothy T C TT; Ngan, Roger Kai-Cheong RK; Tsao, George Sai-Wah GS; Li Lung, Maria M

Publication Date: 2014

Variant appearance in text: ERCC6: R1230P; rs4253211

PubMed Link: 24490137

Variant Present in the following documents:

• mmc5.xlsx, sheet 2
• mmc5.xlsx, sheet 3

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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: rs4253211

PubMed Link: 23720401

Variant Present in the following documents:

• Main text

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Head and neck cancer: effective prevention in youth and predictive diagnostics for personalised treatment strategies according to biological differences.

The Epma Journal

Dietz, Andreas A; Wichmann, Gunnar G

Publication Date: 2011-06

Variant appearance in text: ERCC6: Arg1230Pro

PubMed Link: 23199152

Variant Present in the following documents:

• Main text
• 13167_2011_Article_82.pdf

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Predictive biomarkers of bacillus calmette-guérin immunotherapy response in bladder cancer: where are we now?

Advances In Urology

Lima, Luís L; Dinis-Ribeiro, Mário M; Longatto-Filho, Adhemar A; Santos, Lúcio L

Publication Date: 2012

Variant appearance in text: ERCC6: Arg1230Pro

PubMed Link: 22919375

Variant Present in the following documents:

• Main text

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Comprehensive pathway-based interrogation of genetic variations in the nucleotide excision DNA repair pathway and risk of bladder cancer.

Cancer

Xing, Jinliang J; Dinney, Colin P CP; Shete, Sanjay S; Huang, Maosheng M; Hildebrandt, Michelle A MA; Chen, Zhinan Z; Gu, Jian J

Publication Date: 2012-01-01

Variant appearance in text: rs4253211

PubMed Link: 21692063

Variant Present in the following documents:

• Main text

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A novel statistic for genome-wide interaction analysis.

Plos Genetics

Wu, Xuesen X; Dong, Hua H; Luo, Li L; Zhu, Yun Y; Peng, Gang G; Reveille, John D JD; Xiong, Momiao M

Publication Date: 2010-09-23

Variant appearance in text: rs4253211

PubMed Link: 20885795

Variant Present in the following documents:

• Main text
• pgen.1001131.pdf

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Association between DNA damage response and repair genes and risk of invasive serous ovarian cancer.

Plos One

Schildkraut, Joellen M JM; Iversen, Edwin S ES; Wilson, Melanie A MA; Clyde, Merlise A MA; Moorman, Patricia G PG; Palmieri, Rachel T RT; Whitaker, Regina R; Bentley, Rex C RC; Marks, Jeffrey R JR; Berchuck, Andrew A

Publication Date: 2010-04-08

Variant appearance in text: rs4253211

PubMed Link: 20386703

Variant Present in the following documents:

• Main text
• pone.0010061.pdf

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Genetic susceptibility to esophageal cancer: the role of the nucleotide excision repair pathway.

Carcinogenesis

Pan, Jennifer J; Lin, Jie J; Izzo, Julie G JG; Liu, Yang Y; Xing, Jinliang J; Huang, Maosheng M; Ajani, Jaffer A JA; Wu, Xifeng X

Publication Date: 2009-05

Variant appearance in text: ERCC6: Arg1230Pro; rs4253211

PubMed Link: 19270000

Variant Present in the following documents:

• Main text

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Germline genetic variations in drug action pathways predict clinical outcomes in advanced lung cancer treated with platinum-based chemotherapy.

Pharmacogenetics And Genomics

Wu, Xifeng X; Lu, Charles C; Ye, Yuanqing Y; Chang, Joe J; Yang, Hushan H; Lin, Jie J; Gu, Jian J; Hong, Waun Ki WK; Stewart, David D; Spitz, Margaret R MR

Publication Date: 2008-11

Variant appearance in text: ERCC6: Arg1230Pro; rs4253211

PubMed Link: 18854777

Variant Present in the following documents:

• Main text

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Genetic associations with thalidomide mediated venous thrombotic events in myeloma identified using targeted genotyping.

Blood

Johnson, David C DC; Corthals, Sophie S; Ramos, Christine C; Hoering, Antje A; Cocks, Kim K; Dickens, Nicholas J NJ; Haessler, Jeff J; Goldschmidt, Harmut H; Child, J Anthony JA; Bell, Sue E SE; Jackson, Graham G; Baris, Dalsu D; Rajkumar, S Vincent SV; Davies, Faith E FE; Durie, Brian G M BG; Crowley, John J; Sonneveld, Pieter P; Van Ness, Brian B; Morgan, Gareth J GJ

Publication Date: 2008-12-15

Variant appearance in text: rs4253211

PubMed Link: 18805967

Variant Present in the following documents:

• Main text

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Case-control analysis of nucleotide excision repair pathway and the risk of renal cell carcinoma.

Carcinogenesis

Lin, Jie J; Pu, Xia X; Wang, Wei W; Matin, Surena S; Tannir, Nizar M NM; Wood, Christopher G CG; Wu, Xifeng X

Publication Date: 2008-11

Variant appearance in text: ERCC6: Arg1230Pro; rs4253211

PubMed Link: 18711149

Variant Present in the following documents:

• Main text

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Pathway analysis of single-nucleotide polymorphisms potentially associated with glioblastoma multiforme susceptibility using random forests.

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

Chang, Jeffrey S JS; Yeh, Ru-Fang RF; Wiencke, John K JK; Wiemels, Joseph L JL; Smirnov, Ivan I; Pico, Alexander R AR; Tihan, Tarik T; Patoka, Joe J; Miike, Rei R; Sison, Jennette D JD; Rice, Terri T; Wrensch, Margaret R MR

Publication Date: 2008-06

Variant appearance in text: rs4253211

PubMed Link: 18559551

Variant Present in the following documents:

• Main text

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Bladder cancer predisposition: a multigenic approach to DNA-repair and cell-cycle-control genes.

American Journal Of Human Genetics

Wu, Xifeng X; Gu, Jian J; Grossman, H Barton HB; Amos, Christopher I CI; Etzel, Carol C; Huang, Maosheng M; Zhang, Qing Q; Millikan, Randal E RE; Lerner, Seth S; Dinney, Colin P CP; Spitz, Margaret R MR

Publication Date: 2006-03

Variant appearance in text: ERCC6: R1230P; rs4253211

PubMed Link: 16465622

Variant Present in the following documents:

• Main text

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