Publications:

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Whole-exome sequencing revealed a novel ERCC6 variant in a Vietnamese patient with Cockayne syndrome.

Human Genome Variation

Duong, Nguyen Thuy NT; Anh, Nguyen Phuong NP; Bac, Nguyen Duy ND; Quang, Le Bach LB; Miyake, Noriko N; Van Hai, Nong N; Matsumoto, Naomichi N

Publication Date: 2022-06-06

Variant appearance in text: ERCC6: P1095R

PubMed Link: 35668072

Variant Present in the following documents:

• Main text
• 41439_2022_Article_200.pdf

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Mechanism of Rad26-assisted rescue of stalled RNA polymerase II in transcription-coupled repair.

Nature Communications

Yan, Chunli C; Dodd, Thomas T; Yu, Jina J; Leung, Bernice B; Xu, Jun J; Oh, Juntaek J; Wang, Dong D; Ivanov, Ivaylo I

Publication Date: 2021-12-01

Variant appearance in text: ERCC6: P1095R

PubMed Link: 34853308

Variant Present in the following documents:

• 41467_2021_Article_27295.pdf

View BVdb publication page

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Mechanism of Rad26-assisted rescue of stalled RNA polymerase II in transcription-coupled repair.

Nature Communications

Yan, Chunli C; Dodd, Thomas T; Yu, Jina J; Leung, Bernice B; Xu, Jun J; Oh, Juntaek J; Wang, Dong D; Ivanov, Ivaylo I

Publication Date: 2021-12-01

Variant appearance in text: ERCC6: P1095R

PubMed Link: 34853308

Variant Present in the following documents:

• 41467_2021_Article_27295.pdf

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: rs4253208

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 4

View BVdb publication page

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Genomics of lethal prostate cancer at diagnosis and castration resistance.

The Journal Of Clinical Investigation

Mateo, Joaquin J; Seed, George G; Bertan, Claudia C; Rescigno, Pasquale P; Dolling, David D; Figueiredo, Ines I; Miranda, Susana S; Nava Rodrigues, Daniel D; Gurel, Bora B; Clarke, Matthew M; Atkin, Mark M; Chandler, Rob R; Messina, Carlo C; Sumanasuriya, Semini S; Bianchini, Diletta D; Barrero, Maialen M; Petermolo, Antonella A; Zafeiriou, Zafeiris Z; Fontes, Mariane M; Perez-Lopez, Raquel R; Tunariu, Nina N; Fulton, Ben B; Jones, Robert R; McGovern, Ursula U; Ralph, Christy C; Varughese, Mohini M; Parikh, Omi O; Jain, Suneil S; Elliott, Tony T; Sandhu, Shahneen S; Porta, Nuria N; Hall, Emma E; Yuan, Wei W; Carreira, Suzanne S; de Bono, Johann S JS

Publication Date: 2020-04-01

Variant appearance in text: ERCC6: 3284C>G; P1095R; rs4253208

PubMed Link: 31874108

Variant Present in the following documents:

• jci-130-132031-s100.xlsx, sheet 1

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Novel frame shift mutation in ERCC6 leads to a severe form of Cockayne syndrome with postnatal growth failure and early death: A case report and brief literature review.

Medicine

Kou, Yao Y; Shboul, Mohammad M; Wang, Zhihao Z; Shersheer, Qasem Q; Lyu, Zhaojie Z; Liu, Peirong P; Zhao, Xiaodong X; Tian, Jing J

Publication Date: 2018-08

Variant appearance in text: ERCC6: 3284C>G; Pro1095Arg

PubMed Link: 30113454

Variant Present in the following documents:

• medi-97-e11636.pdf

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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: 3284C>G; Pro1095Arg

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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The Qatar genome: a population-specific tool for precision medicine in the Middle East.

Human Genome Variation

Fakhro, Khalid A KA; Staudt, Michelle R MR; Ramstetter, Monica Denise MD; Robay, Amal A; Malek, Joel A JA; Badii, Ramin R; Al-Marri, Ajayeb Al-Nabet AA; Abi Khalil, Charbel C; Al-Shakaki, Alya A; Chidiac, Omar O; Stadler, Dora D; Zirie, Mahmoud M; Jayyousi, Amin A; Salit, Jacqueline J; Mezey, Jason G JG; Crystal, Ronald G RG; Rodriguez-Flores, Juan L JL

Publication Date: 2016

Variant appearance in text: rs4253208

PubMed Link: 27408750

Variant Present in the following documents:

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: rs4253208

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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: ERCC6: P1095R

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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The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.

Nucleic Acids Research

Tang, Xiaojia X; Baheti, Saurabh S; Shameer, Khader K; Thompson, Kevin J KJ; Wills, Quin Q; Niu, Nifang N; Holcomb, Ilona N IN; Boutet, Stephane C SC; Ramakrishnan, Ramesh R; Kachergus, Jennifer M JM; Kocher, Jean-Pierre A JP; Weinshilboum, Richard M RM; Wang, Liewei L; Thompson, E Aubrey EA; Kalari, Krishna R KR

Publication Date: 2014-12-16

Variant appearance in text: ERCC6: P1095R; rs4253208

PubMed Link: 25352556

Variant Present in the following documents:

• supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 24

View BVdb publication page

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Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Nucleic Acids Research

Ryu, Gil-Mi GM; Song, Pamela P; Kim, Kyu-Won KW; Oh, Kyung-Soo KS; Park, Keun-Joon KJ; Kim, Jong Hun JH

Publication Date: 2009-03

Variant appearance in text: ERCC6: P1095R; rs4253208

PubMed Link: 19139070

Variant Present in the following documents:

• gkn1008_nar-01723-s-2008-File009.xls, sheet 4
• gkn1008_nar-01723-s-2008-File011.xls, sheet 4

View BVdb publication page

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