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: IFT140: V108M; rs146128830

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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Family-based whole-exome sequencing identifies rare variants potentially related to cutaneous melanoma predisposition in Brazilian melanoma-prone families.

Plos One

Fidalgo, Felipe F; Torrezan, Giovana Tardin GT; Sá, Bianca Costa Soares de BCS; Barros, Bruna Durães de Figueiredo BDF; Moredo, Luciana Facure LF; Valieris, Renan R; de Souza, Sandro J SJ; Duprat, João Pereira JP; Krepischi, Ana Cristina Victorino ACV; Carraro, Dirce Maria DM

Publication Date: 2022

Variant appearance in text: IFT140: 322G>A; Val108Met; rs146128830

PubMed Link: 35085295

Variant Present in the following documents:

• pone.0262419.s002.xlsx, sheet 1

View BVdb publication page

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Family-based whole-exome sequencing identifies rare variants potentially related to cutaneous melanoma predisposition in Brazilian melanoma-prone families.

Plos One

Fidalgo, Felipe F; Torrezan, Giovana Tardin GT; Sá, Bianca Costa Soares de BCS; Barros, Bruna Durães de Figueiredo BDF; Moredo, Luciana Facure LF; Valieris, Renan R; de Souza, Sandro J SJ; Duprat, João Pereira JP; Krepischi, Ana Cristina Victorino ACV; Carraro, Dirce Maria DM

Publication Date: 2022

Variant appearance in text: IFT140: 322G>A; Val108Met; rs146128830

PubMed Link: 35085295

Variant Present in the following documents:

• pone.0262419.s002.xlsx, sheet 1

View BVdb publication page

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The Immune Landscape of Chinese Head and Neck Adenoid Cystic Carcinoma and Clinical Implication.

Frontiers In Immunology

Dou, Shengjin S; Li, Rongrong R; He, Ning N; Zhang, Menghuan M; Jiang, Wen W; Ye, Lulu L; Yang, Yining Y; Zhao, Guodong G; Yang, Yadong Y; Li, Jiang J; Chen, Di D; Zhu, Guopei G

Publication Date: 2021

Variant appearance in text: IFT140: 322G>A; Val108Met

PubMed Link: 34552580

Variant Present in the following documents:

• DataSheet_3.xlsx, sheet 2

View BVdb publication page

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Evolving neoantigen profiles in colorectal cancers with DNA repair defects.

Genome Medicine

Rospo, Giuseppe G; Lorenzato, Annalisa A; Amirouchene-Angelozzi, Nabil N; Magrì, Alessandro A; Cancelliere, Carlotta C; Corti, Giorgio G; Negrino, Carola C; Amodio, Vito V; Montone, Monica M; Bartolini, Alice A; Barault, Ludovic L; Novara, Luca L; Isella, Claudio C; Medico, Enzo E; Bertotti, Andrea A; Trusolino, Livio L; Germano, Giovanni G; Di Nicolantonio, Federica F; Bardelli, Alberto A

Publication Date: 2019-06-28

Variant appearance in text: IFT140: V108M

PubMed Link: 31253177

Variant Present in the following documents:

• 13073_2019_654_MOESM2_ESM.xlsx, sheet 15
• 13073_2019_654_MOESM2_ESM.xlsx, sheet 41

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: IFT140: V108M; rs146128830

PubMed Link: 30380422

Variant Present in the following documents:

• NIHMS1511993-supplement-6.xlsx, sheet 1

View BVdb publication page

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Actionable perturbations of damage responses by TCL1/ATM and epigenetic lesions form the basis of T-PLL.

Nature Communications

Schrader, A A; Crispatzu, G G; Oberbeck, S S; Mayer, P P; Pützer, S S; von Jan, J J; Vasyutina, E E; Warner, K K; Weit, N N; Pflug, N N; Braun, T T; Andersson, E I EI; Yadav, B B; Riabinska, A A; Maurer, B B; Ventura Ferreira, M S MS; Beier, F F; Altmüller, J J; Lanasa, M M; Herling, C D CD; Haferlach, T T; Stilgenbauer, S S; Hopfinger, G G; Peifer, M M; Brümmendorf, T H TH; Nürnberg, P P; Elenitoba-Johnson, K S J KSJ; Zha, S S; Hallek, M M; Moriggl, R R; Reinhardt, H C HC; Stern, M-H MH; Mustjoki, S S; Newrzela, S S; Frommolt, P P; Herling, M M

Publication Date: 2018-02-15

Variant appearance in text: IFT140: V108M; rs146128830

PubMed Link: 29449575

Variant Present in the following documents:

• 41467_2017_2688_MOESM14_ESM.xls, sheet 3

View BVdb publication page

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Large-scale exploratory genetic analysis of cognitive impairment in Parkinson's disease.

Neurobiology Of Aging

Mata, Ignacio F IF; Johnson, Catherine O CO; Leverenz, James B JB; Weintraub, Daniel D; Trojanowski, John Q JQ; Van Deerlin, Vivianna M VM; Ritz, Beate B; Rausch, Rebecca R; Factor, Stewart A SA; Wood-Siverio, Cathy C; Quinn, Joseph F JF; Chung, Kathryn A KA; Peterson-Hiller, Amie L AL; Espay, Alberto J AJ; Revilla, Fredy J FJ; Devoto, Johnna J; Yearout, Dora D; Hu, Shu-Ching SC; Cholerton, Brenna A BA; Montine, Thomas J TJ; Edwards, Karen L KL; Zabetian, Cyrus P CP

Publication Date: 2017-08

Variant appearance in text: rs146128830

PubMed Link: 28526295

Variant Present in the following documents:

• Main text

View BVdb publication page

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De Novo and Rare Variants at Multiple Loci Support the Oligogenic Origins of Atrioventricular Septal Heart Defects.

Plos Genetics

Priest, James R JR; Osoegawa, Kazutoyo K; Mohammed, Nebil N; Nanda, Vivek V; Kundu, Ramendra R; Schultz, Kathleen K; Lammer, Edward J EJ; Girirajan, Santhosh S; Scheetz, Todd T; Waggott, Daryl D; Haddad, Francois F; Reddy, Sushma S; Bernstein, Daniel D; Burns, Trudy T; Steimle, Jeffrey D JD; Yang, Xinan H XH; Moskowitz, Ivan P IP; Hurles, Matthew M; Lifton, Richard P RP; Nickerson, Debbie D; Bamshad, Michael M; Eichler, Evan E EE; Mital, Seema S; Sheffield, Val V; Quertermous, Thomas T; Gelb, Bruce D BD; Portman, Michael M; Ashley, Euan A EA

Publication Date: 2016-04

Variant appearance in text: IFT140: V108M

PubMed Link: 27058611

Variant Present in the following documents:

• Main text
• pgen.1005963.pdf

View BVdb publication page

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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: IFT140: V108M

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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