Publications:

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Genetic variants in African-American and Hispanic patients with breast cancer.

Oncology Letters

Dutta, Pranabananda P; Keung, Man Y MY; Wu, Yanyuan Y; Vadgama, Jaydutt V JV

Publication Date: 2023-02

Variant appearance in text: TINF2: 721C>T; P241S

PubMed Link: 36644153

Variant Present in the following documents:

• Supplementary_Data5.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: TINF2: P241S; rs17102311

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 9

View BVdb publication page

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Familial Psychosis Associated With a Missense Mutation at MACF1 Gene Combined With the Rare Duplications DUP3p26.3 and DUP16q23.3, Affecting the CNTN6 and CDH13 Genes.

Frontiers In Genetics

Pol-Fuster, Josep J; Cañellas, Francesca F; Ruiz-Guerra, Laura L; Medina-Dols, Aina A; Bisbal-Carrió, Bàrbara B; Asensio, Víctor V; Ortega-Vila, Bernat B; Marzese, Diego D; Vidal, Carme C; Santos, Carmen C; Lladó, Jerònia J; Olmos, Gabriel G; Heine-Suñer, Damià D; Strauch, Konstantin K; Flaquer, Antònia A; Vives-Bauzà, Cristòfol C

Publication Date: 2021

Variant appearance in text: rs17102311

PubMed Link: 33897758

Variant Present in the following documents:

• Main text

View BVdb publication page

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Structural Features of Nucleoprotein CST/Shelterin Complex Involved in the Telomere Maintenance and Its Association with Disease Mutations.

Cells

Amir, Mohd M; Khan, Parvez P; Queen, Aarfa A; Dohare, Ravins R; Alajmi, Mohamed F MF; Hussain, Afzal A; Islam, Asimul A; Ahmad, Faizan F; Hassan, Imtaiyaz I

Publication Date: 2020-02-04

Variant appearance in text: TIN2: P241S

PubMed Link: 32033110

Variant Present in the following documents:

• Main text
• cells-09-00359.pdf

View BVdb publication page

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Telomerase Variants in Patients with Cirrhosis Awaiting Liver Transplantation.

Hepatology (Baltimore, Md.)

Chiu, Victor V; Hogen, Rachel R; Sher, Linda L; Wadé, Niquelle N; Conti, David D; Martynova, Anastasia A; Li, Hongtao H; Liang, Gangning G; O'Connell, Casey C

Publication Date: 2019-06

Variant appearance in text: TINF2: 721C>T; Pro241Ser

PubMed Link: 30964210

Variant Present in the following documents:

• Main text
• HEP-69-2652.pdf

View BVdb publication page

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Multigene panel sequencing of established and candidate melanoma susceptibility genes in a large cohort of Dutch non-CDKN2A/CDK4 melanoma families.

International Journal Of Cancer

Potjer, Thomas P TP; Bollen, Sander S; Grimbergen, Anneliese J E M AJEM; van Doorn, Remco R; Gruis, Nelleke A NA; van Asperen, Christi J CJ; Hes, Frederik J FJ; van der Stoep, Nienke N; ,

Publication Date: 2019-05-15

Variant appearance in text: rs17102311

PubMed Link: 30414346

Variant Present in the following documents:

View BVdb publication page

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Genomic and Transcriptomic Characterization Links Cell Lines with Aggressive Head and Neck Cancers.

Cell Reports

Cheng, Hui H; Yang, Xinping X; Si, Han H; Saleh, Anthony D AD; Xiao, Wenming W; Coupar, Jamie J; Gollin, Susanne M SM; Ferris, Robert L RL; Issaeva, Natalia N; Yarbrough, Wendell G WG; Prince, Mark E ME; Carey, Thomas E TE; Van Waes, Carter C; Chen, Zhong Z

Publication Date: 2018-10-30

Variant appearance in text: TINF2: P241S; rs17102311

PubMed Link: 30380422

Variant Present in the following documents:

• NIHMS1511993-supplement-6.xlsx, sheet 1

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: rs17102311

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: TINF2: P241S

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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Genetic Variations in Telomere Maintenance, with Implications on Tissue Renewal Capacity and Chronic Disease Pathologies.

Current Pharmacogenomics And Personalized Medicine

Trudeau, M A MA; Wong, J M Y JM

Publication Date: 2010-03-01

Variant appearance in text: TINF2: P241S; rs17102311

PubMed Link: 21258621

Variant Present in the following documents:

• Main text

View BVdb publication page

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Telomere length measurement can distinguish pathogenic from non-pathogenic variants in the shelterin component, TIN2.

Clinical Genetics

Vulliamy, T T; Beswick, R R; Kirwan, M J MJ; Hossain, U U; Walne, A J AJ; Dokal, I I

Publication Date: 2012-01

Variant appearance in text: TINF2: Pro241Ser; rs17102311

PubMed Link: 21199492

Variant Present in the following documents:

• Main text
• cge0081-0076.pdf

View BVdb publication page

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