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: TCHHL1: Q656X; rs150014958

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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Correlation of age-of-onset of Atopic Dermatitis with Filaggrin loss-of-function variant status.

Scientific Reports

Smieszek, S P SP; Welsh, S S; Xiao, C C; Wang, J J; Polymeropoulos, C C; Birznieks, G G; Polymeropoulos, M H MH

Publication Date: 2020-02-17

Variant appearance in text: rs150014958

PubMed Link: 32066784

Variant Present in the following documents:

• Main text
• 41598_2020_Article_59627.pdf

View BVdb publication page

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The GenomeAsia 100K Project enables genetic discoveries across Asia.

Nature

,

Publication Date: 2019-12

Variant appearance in text: TCHHL1: Q656*; rs150014958

PubMed Link: 31802016

Variant Present in the following documents:

• 41586_2019_1793_MOESM3_ESM.xlsx, sheet 20

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: TCHHL1: Q656*; rs150014958

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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Human knockouts and phenotypic analysis in a cohort with a high rate of consanguinity.

Nature

Saleheen, Danish D; Natarajan, Pradeep P; Armean, Irina M IM; Zhao, Wei W; Rasheed, Asif A; Khetarpal, Sumeet A SA; Won, Hong-Hee HH; Karczewski, Konrad J KJ; O'Donnell-Luria, Anne H AH; Samocha, Kaitlin E KE; Weisburd, Benjamin B; Gupta, Namrata N; Zaidi, Mozzam M; Samuel, Maria M; Imran, Atif A; Abbas, Shahid S; Majeed, Faisal F; Ishaq, Madiha M; Akhtar, Saba S; Trindade, Kevin K; Mucksavage, Megan M; Qamar, Nadeem N; Zaman, Khan Shah KS; Yaqoob, Zia Z; Saghir, Tahir T; Rizvi, Syed Nadeem Hasan SNH; Memon, Anis A; Hayyat Mallick, Nadeem N; Ishaq, Mohammad M; Rasheed, Syed Zahed SZ; Memon, Fazal-Ur-Rehman FU; Mahmood, Khalid K; Ahmed, Naveeduddin N; Do, Ron R; Krauss, Ronald M RM; MacArthur, Daniel G DG; Gabriel, Stacey S; Lander, Eric S ES; Daly, Mark J MJ; Frossard, Philippe P; Danesh, John J; Rader, Daniel J DJ; Kathiresan, Sekar S

Publication Date: 2017-04-12

Variant appearance in text: TCHHL1: 1966C>T; Gln656Ter

PubMed Link: 28406212

Variant Present in the following documents:

• NIHMS857566-supplement-Suppl__Table_1.xlsx, sheet 1

View BVdb publication page

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Discovery and functional prioritization of Parkinson's disease candidate genes from large-scale whole exome sequencing.

Genome Biology

Jansen, Iris E IE; Ye, Hui H; Heetveld, Sasja S; Lechler, Marie C MC; Michels, Helen H; Seinstra, Renée I RI; Lubbe, Steven J SJ; Drouet, Valérie V; Lesage, Suzanne S; Majounie, Elisa E; Gibbs, J Raphael JR; Nalls, Mike A MA; Ryten, Mina M; Botia, Juan A JA; Vandrovcova, Jana J; Simon-Sanchez, Javier J; Castillo-Lizardo, Melissa M; Rizzu, Patrizia P; Blauwendraat, Cornelis C; Chouhan, Amit K AK; Li, Yarong Y; Yogi, Puja P; Amin, Najaf N; van Duijn, Cornelia M CM; , ; Morris, Huw R HR; Brice, Alexis A; Singleton, Andrew B AB; David, Della C DC; Nollen, Ellen A EA; Jain, Shushant S; Shulman, Joshua M JM; Heutink, Peter P

Publication Date: 2017-01-30

Variant appearance in text: TCHHL1: Q656X; rs150014958

PubMed Link: 28137300

Variant Present in the following documents:

• Main text

View BVdb publication page

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Clonal relationships between lobular carcinoma in situ and other breast malignancies.

Breast Cancer Research : Bcr

Begg, Colin B CB; Ostrovnaya, Irina I; Carniello, Jose V Scarpa JV; Sakr, Rita A RA; Giri, Dilip D; Towers, Russell R; Schizas, Michail M; De Brot, Marina M; Andrade, Victor P VP; Mauguen, Audrey A; Seshan, Venkatraman E VE; King, Tari A TA

Publication Date: 2016-06-23

Variant appearance in text: TCHHL1: Q656*

PubMed Link: 27334989

Variant Present in the following documents:

• 13058_2016_727_MOESM3_ESM.xlsx, sheet 1

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: TCHHL1: Q656X

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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Exome sequencing reveals comprehensive genomic alterations across eight cancer cell lines.

Plos One

Chang, Han H; Jackson, Donald G DG; Kayne, Paul S PS; Ross-Macdonald, Petra B PB; Ryseck, Rolf-Peter RP; Siemers, Nathan O NO

Publication Date: 2011

Variant appearance in text: TCHHL1: Q656*

PubMed Link: 21701589

Variant Present in the following documents:

• pone.0021097.s002.xls, sheet 4

View BVdb publication page

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