Publications:

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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: rs80194531

PubMed Link: 36582804

Variant Present in the following documents:

• Table_6.xlsx, sheet 1

View BVdb publication page

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CTCF DNA-binding domain undergoes dynamic and selective protein-protein interactions.

Iscience

Zhou, Rong R; Tian, Kai K; Huang, Jie J; Duan, Wenjia W; Fu, Hongye H; Feng, Ying Y; Wang, Hui H; Jiang, Yongpeng Y; Li, Yuanjun Y; Wang, Rui R; Hu, Jiazhi J; Ma, Hanhui H; Qi, Zhi Z; Ji, Xiong X

Publication Date: 2022-09-16

Variant appearance in text: ZEB1: 233A>C; N78T

PubMed Link: 36117989

Variant Present in the following documents:

• mmc4.xlsx, sheet 1

View BVdb publication page

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Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines.

Nature Neuroscience

Baxi, Emily G EG; Thompson, Terri T; Li, Jonathan J; Kaye, Julia A JA; Lim, Ryan G RG; Wu, Jie J; Ramamoorthy, Divya D; Lima, Leandro L; Vaibhav, Vineet V; Matlock, Andrea A; Frank, Aaron A; Coyne, Alyssa N AN; Landin, Barry B; Ornelas, Loren L; Mosmiller, Elizabeth E; Thrower, Sara S; Farr, S Michelle SM; Panther, Lindsey L; Gomez, Emilda E; Galvez, Erick E; Perez, Daniel D; Meepe, Imara I; Lei, Susan S; Mandefro, Berhan B; Trost, Hannah H; Pinedo, Louis L; Banuelos, Maria G MG; Liu, Chunyan C; Moran, Ruby R; Garcia, Veronica V; Workman, Michael M; Ho, Richie R; Wyman, Stacia S; Roggenbuck, Jennifer J; Harms, Matthew B MB; Stocksdale, Jennifer J; Miramontes, Ricardo R; Wang, Keona K; Venkatraman, Vidya V; Holewenski, Ronald R; Sundararaman, Niveda N; Pandey, Rakhi R; Manalo, Danica-Mae DM; Donde, Aneesh A; Huynh, Nhan N; Adam, Miriam M; Wassie, Brook T BT; Vertudes, Edward E; Amirani, Naufa N; Raja, Krishna K; Thomas, Reuben R; Hayes, Lindsey L; Lenail, Alex A; Cerezo, Aianna A; Luppino, Sarah S; Farrar, Alanna A; Pothier, Lindsay L; Prina, Carolyn C; Morgan, Todd T; Jamil, Arish A; Heintzman, Sarah S; Jockel-Balsarotti, Jennifer J; Karanja, Elizabeth E; Markway, Jesse J; McCallum, Molly M; Joslin, Ben B; Alibazoglu, Deniz D; Kolb, Stephen S; Ajroud-Driss, Senda S; Baloh, Robert R; Heitzman, Daragh D; Miller, Tim T; Glass, Jonathan D JD; Patel-Murray, Natasha Leanna NL; Yu, Hong H; Sinani, Ervin E; Vigneswaran, Prasha P; Sherman, Alexander V AV; Ahmad, Omar O; Roy, Promit P; Beavers, Jay C JC; Zeiler, Steven S; Krakauer, John W JW; Agurto, Carla C; Cecchi, Guillermo G; Bellard, Mary M; Raghav, Yogindra Y; Sachs, Karen K; Ehrenberger, Tobias T; Bruce, Elizabeth E; Cudkowicz, Merit E ME; Maragakis, Nicholas N; Norel, Raquel R; Van Eyk, Jennifer E JE; Finkbeiner, Steven S; Berry, James J; Sareen, Dhruv D; Thompson, Leslie M LM; Fraenkel, Ernest E; Svendsen, Clive N CN; Rothstein, Jeffrey D JD

Publication Date: 2022-02

Variant appearance in text: ZEB1: N78T; rs80194531

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 7

View BVdb publication page

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Genetic mutations and molecular mechanisms of Fuchs endothelial corneal dystrophy.

Eye And Vision (London, England)

Liu, Xuerui X; Zheng, Tao T; Zhao, Chuchu C; Zhang, Yi Y; Liu, Hanruo H; Wang, Liyuan L; Liu, Ping P

Publication Date: 2021-06-15

Variant appearance in text: TCF8: N78T

PubMed Link: 34130750

Variant Present in the following documents:

• Main text
• 40662_2021_Article_246.pdf

View BVdb publication page

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High-depth African genomes inform human migration and health.

Nature

Choudhury, Ananyo A; Aron, Shaun S; Botigué, Laura R LR; Sengupta, Dhriti D; Botha, Gerrit G; Bensellak, Taoufik T; Wells, Gordon G; Kumuthini, Judit J; Shriner, Daniel D; Fakim, Yasmina J YJ; Ghoorah, Anisah W AW; Dareng, Eileen E; Odia, Trust T; Falola, Oluwadamilare O; Adebiyi, Ezekiel E; Hazelhurst, Scott S; Mazandu, Gaston G; Nyangiri, Oscar A OA; Mbiyavanga, Mamana M; Benkahla, Alia A; Kassim, Samar K SK; Mulder, Nicola N; Adebamowo, Sally N SN; Chimusa, Emile R ER; Muzny, Donna D; Metcalf, Ginger G; Gibbs, Richard A RA; , ; Rotimi, Charles C; Ramsay, Michèle M; , ; Adeyemo, Adebowale A AA; Lombard, Zané Z; Hanchard, Neil A NA

Publication Date: 2020-10

Variant appearance in text: ZEB1: 233A>C; Asn78Thr

PubMed Link: 33116287

Variant Present in the following documents:

• 41586_2020_2859_MOESM3_ESM.xlsx, sheet 21

View BVdb publication page

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Fuchs endothelial corneal dystrophy: The vicious cycle of Fuchs pathogenesis.

Progress In Retinal And Eye Research

Ong Tone, Stephan S; Kocaba, Viridiana V; Böhm, Myriam M; Wylegala, Adam A; White, Tomas L TL; Jurkunas, Ula V UV

Publication Date: 2021-01

Variant appearance in text: ZEB1: N78T

PubMed Link: 32438095

Variant Present in the following documents:

• Main text

View BVdb publication page

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Dating genomic variants and shared ancestry in population-scale sequencing data.

Plos Biology

Albers, Patrick K PK; McVean, Gil G

Publication Date: 2020-01

Variant appearance in text: ZEB1: Asn78Thr; rs80194531

PubMed Link: 31951611

Variant Present in the following documents:

• Main text
• pbio.3000586.pdf

View BVdb publication page

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Reinterpretation of common pathogenic variants in ClinVar revealed a high proportion of downgrades.

Scientific Reports

Xiang, Jiale J; Yang, Jiyun J; Chen, Lisha L; Chen, Qiang Q; Yang, Haiyan H; Sun, Chengcheng C; Zhou, Qing Q; Peng, Zhiyu Z

Publication Date: 2020-01-15

Variant appearance in text: TCF8: 233A>C

PubMed Link: 31942019

Variant Present in the following documents:

• 41598_2019_57335_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.

Plos Genetics

Capalbo, Antonio A; Valero, Roberto Alonso RA; Jimenez-Almazan, Jorge J; Pardo, Pere Mir PM; Fabiani, Marco M; Jiménez, David D; Simon, Carlos C; Rodriguez, Julio Martin JM

Publication Date: 2019-10

Variant appearance in text: ZEB1: 233A>C; Asn78Thr

PubMed Link: 31589614

Variant Present in the following documents:

• pgen.1008409.s001.xlsx, sheet 1

View BVdb publication page

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Loss of the candidate tumor suppressor ZEB1 (TCF8, ZFHX1A) in Sézary syndrome.

Cell Death & Disease

Caprini, Elisabetta E; Bresin, Antonella A; Cristofoletti, Cristina C; Helmer Citterich, Mauro M; Tocco, Valeria V; Scala, Enrico E; Monopoli, Alessandro A; Benucci, Roberto R; Narducci, Maria Grazia MG; Russo, Giandomenico G

Publication Date: 2018-12-05

Variant appearance in text: ZEB1: N78T; rs80194531

PubMed Link: 30518749

Variant Present in the following documents:

• Main text
• 41419_2018_Article_1212.pdf

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: FECD6: N78T; rs80194531

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 common variants in TCF4 and PTPRG with Fuchs' corneal dystrophy: a systematic review and meta-analysis.

Plos One

Lau, Lawrence C M LC; Ma, Li L; Young, Alvin L AL; Rong, Shi Song SS; Jhanji, Vishal V; Brelen, Marten E ME; Pang, Chi Pui CP; Chen, Li Jia LJ

Publication Date: 2014

Variant appearance in text: TCF8: N78T

PubMed Link: 25299301

Variant Present in the following documents:

• Main text
• pone.0109142.pdf

View BVdb publication page

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The genetics of Fuchs' corneal dystrophy.

Expert Review Of Ophthalmology

Iliff, Benjamin W BW; Riazuddin, S Amer SA; Gottsch, John D JD

Publication Date: 2012-08

Variant appearance in text: ZEB1: N78T

PubMed Link: 23585771

Variant Present in the following documents:

• Main text

View BVdb publication page

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Missense mutations in TCF8 cause late-onset Fuchs corneal dystrophy and interact with FCD4 on chromosome 9p.

American Journal Of Human Genetics

Riazuddin, S Amer SA; Zaghloul, Norann A NA; Al-Saif, Amr A; Davey, Lisa L; Diplas, Bill H BH; Meadows, Danielle N DN; Eghrari, Allen O AO; Minear, Mollie A MA; Li, Yi-Ju YJ; Klintworth, Gordon K GK; Afshari, Natalie N; Gregory, Simon G SG; Gottsch, John D JD; Katsanis, Nicholas N

Publication Date: 2010-01

Variant appearance in text: TCF8: N78T

PubMed Link: 20036349

Variant Present in the following documents:

• Main text

View BVdb publication page

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