Publications:

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Genetic variants influenced the risk of bleeding and pharmacodynamics of rivaroxaban in patients with nonvalvular atrial fibrillation: A multicentre prospective cohort study.

Clinical And Translational Medicine

Xiang, Qian Q; Wang, Zhe Z; Mu, Guangyan G; Xie, Qiufen Q; Liu, Zhiyan Z; Zhou, Shuang S; Zhang, Hanxu H; Wang, Zining Z; Jiang, Jie J; Hu, Kun K; Zhang, Yatong Y; Zhao, Zinan Z; Yuan, Dongdong D; Guo, Liping L; Wu, Tingting T; Zhang, Jinhua J; Wang, Na N; Xiang, Jing J; Gu, Zhichun Z; Sun, Jianjun J; Cui, Yimin Y

Publication Date: 2023-05

Variant appearance in text: rs13306198

PubMed Link: 37203300

Variant Present in the following documents:

• Main text
• CTM2-13-e1263.pdf

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Association Studies in Clinical Pharmacogenetics.

Pharmaceutics

Zubiaur, Pablo P; Abad-Santos, Francisco F

Publication Date: 2022-12-29

Variant appearance in text: rs13306198

PubMed Link: 36678742

Variant Present in the following documents:

• Main text
• pharmaceutics-15-00113.pdf

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Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics

Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,

Publication Date: 2022-12-01

Variant appearance in text: APOB: T194M; rs13306198

PubMed Link: 36413997

Variant Present in the following documents:

• mmc2.xlsx, sheet 1

View BVdb publication page

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Association between Genetic Polymorphisms and Bleeding in Patients on Direct Oral Anticoagulants.

Pharmaceutics

Yoon, Ha-Young HY; Song, Tae-Jin TJ; Yee, Jeong J; Park, Junbeom J; Gwak, Hye-Sun HS

Publication Date: 2022-09-07

Variant appearance in text: rs13306198

PubMed Link: 36145636

Variant Present in the following documents:

• Main text
• pharmaceutics-14-01889.pdf

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Brain Radiotoxicity-Related 15CAcBRT Gene Expression Signature Predicts Survival Prognosis of Glioblastoma Patients.

Neuro-Oncology

Reyes-González, Jesús J; Barajas-Olmos, Francisco F; García-Ortiz, Humberto H; Magraner-Pardo, Lorena L; Pons, Tirso T; Moreno, Sergio S; Aguirre-Cruz, Lucinda L; Reyes-Abrahantes, Andy A; Martínez-Hernández, Angélica A; Contreras-Cubas, Cecilia C; Barrios-Payan, Jorge J; Ruiz-Garcia, Henry J HJ; Hernandez-Pando, Rogelio R; Quiñones-Hinojosa, Alfredo A; Orozco, Lorena L; Abrahantes-Pérez, María Del Carmen MDC

Publication Date: 2022-07-08

Variant appearance in text: APOB: T194M; rs13306198

PubMed Link: 35802478

Variant Present in the following documents:

• noac171_suppl_suplementary_table_s7.xlsx, sheet 1

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Identification of genetic polymorphisms in unexplained recurrent spontaneous abortion based on whole exome sequencing.

Annals Of Translational Medicine

Mou, Jiang-Tao JT; Huang, Shi-Xing SX; Yu, Li-Li LL; Xu, Jing J; Deng, Qiao-Ling QL; Xie, Yi-Shan YS; Deng, Kun K

Publication Date: 2022-05

Variant appearance in text: APOB: 581C>T; T194M

PubMed Link: 35722368

Variant Present in the following documents:

• Main text
• atm-10-10-603.pdf

View BVdb publication page

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The R93C Variant of PCSK9 Reduces the Risk of Premature MI in a Chinese Han Population.

Frontiers In Genetics

Yang, Lincheng L; Pu, Tian T; Zhang, Yan Y; Yan, Hua H; Yu, Haiyi H; Gao, Wei W

Publication Date: 2022

Variant appearance in text: rs13306198

PubMed Link: 35480303

Variant Present in the following documents:

• Main text
• fgene-13-875269.pdf

View BVdb publication page

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Multifocal Organoid Capturing of Colon Cancer Reveals Pervasive Intratumoral Heterogenous Drug Responses.

Advanced Science (Weinheim, Baden-Wurttemberg, Germany)

Kim, Soon-Chan SC; Park, Ji Won JW; Seo, Ha-Young HY; Kim, Minjung M; Park, Jae-Hyeon JH; Kim, Ga-Hye GH; Lee, Ja Oh JO; Shin, Young-Kyoung YK; Bae, Jeong Mo JM; Koo, Bon-Kyoung BK; Jeong, Seung-Yong SY; Ku, Ja-Lok JL

Publication Date: 2022-02

Variant appearance in text: APOB: 581C>T; T194M

PubMed Link: 34918496

Variant Present in the following documents:

• ADVS-9-2103360-s007.xlsx, sheet 3

View BVdb publication page

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Variants of Lipid-Related Genes in Adult Japanese Patients with Severe Hypertriglyceridemia.

Journal Of Atherosclerosis And Thrombosis

Matsunaga, Akira A; Nagashima, Mariko M; Yamagishi, Hideko H; Saku, Keijiro K

Publication Date: 2020-12-01

Variant appearance in text: APOB: 581C>T; T194M; rs13306198

PubMed Link: 32115487

Variant Present in the following documents:

• Main text
• jat-27-1264.pdf

View BVdb publication page

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Six years' experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias.

Bmc Medical Genomics

Dron, Jacqueline S JS; Wang, Jian J; McIntyre, Adam D AD; Iacocca, Michael A MA; Robinson, John F JF; Ban, Matthew R MR; Cao, Henian H; Hegele, Robert A RA

Publication Date: 2020-02-10

Variant appearance in text: APOB: 581C>T; Thr194Met

PubMed Link: 32041611

Variant Present in the following documents:

• 12920_2020_669_MOESM1_ESM.xlsx, sheet 3

View BVdb publication page

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DNA methylation loss promotes immune evasion of tumours with high mutation and copy number load.

Nature Communications

Jung, Hyunchul H; Kim, Hong Sook HS; Kim, Jeong Yeon JY; Sun, Jong-Mu JM; Ahn, Jin Seok JS; Ahn, Myung-Ju MJ; Park, Keunchil K; Esteller, Manel M; Lee, Se-Hoon SH; Choi, Jung Kyoon JK

Publication Date: 2019-09-19

Variant appearance in text: APOB: T194M

PubMed Link: 31537801

Variant Present in the following documents:

• 41467_2019_12159_MOESM8_ESM.xlsx, sheet 1

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: APOB: T194M

PubMed Link: 31253177

Variant Present in the following documents:

• 13073_2019_654_MOESM2_ESM.xlsx, sheet 52
• 13073_2019_654_MOESM2_ESM.xlsx, sheet 9
• 13073_2019_654_MOESM2_ESM.xlsx, sheet 56
• 13073_2019_654_MOESM2_ESM.xlsx, sheet 46

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Global genetic diversity of human apolipoproteins and effects on cardiovascular disease risk.

Journal Of Lipid Research

Zhou, Yitian Y; Mägi, Reedik R; Milani, Lili L; Lauschke, Volker M VM

Publication Date: 2018-10

Variant appearance in text: APOB: T194M; rs13306198

PubMed Link: 30076208

Variant Present in the following documents:

• Main text
• jlrP086710.pdf
• 10.1194_P086710_jlr.P086710-4.xlsx, sheet 1

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Rare and common variants of APOB and PCSK9 in Korean patients with extremely low low-density lipoprotein-cholesterol levels.

Plos One

Lee, Chan Joo CJ; Lee, Yunbeom Y; Park, Sungha S; Kang, Seok-Min SM; Jang, Yangsoo Y; Lee, Ji Hyun JH; Lee, Sang-Hak SH

Publication Date: 2017

Variant appearance in text: APOB: T194M; rs13306198

PubMed Link: 29036232

Variant Present in the following documents:

• Main text
• pone.0186446.pdf

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Association of MTTP gene variants with pediatric NAFLD: A candidate-gene-based analysis of single nucleotide variations in obese children.

Plos One

Dai, Dongling D; Wen, Feiqiu F; Zhou, Shaoming S; Su, Zhe Z; Liu, Guosheng G; Wang, Mingbang M; Zhou, Jianli J; He, Fusheng F

Publication Date: 2017

Variant appearance in text: APOB: 581C>T; T194M; rs13306198

PubMed Link: 28953935

Variant Present in the following documents:

• pone.0185396.s001.xls, sheet 6
• pone.0185396.s001.xls, sheet 7
• pone.0185396.s001.xls, sheet 3
• pone.0185396.s001.xls, sheet 2
• pone.0185396.s001.xls, sheet 5
• pone.0185396.s001.xls, sheet 4
• pone.0185396.s001.xls, sheet 1

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Findings of a 1303 Korean whole-exome sequencing study.

Experimental & Molecular Medicine

Kwak, Soo Heon SH; Chae, Jeesoo J; Choi, Seongmin S; Kim, Min Jung MJ; Choi, Murim M; Chae, Jong-Hee JH; Cho, Eun-Hae EH; Hwang, Tai Ju TJ; Jang, Se Song SS; Kim, Jong-Il JI; Park, Kyong Soo KS; Bang, Yung-Jue YJ

Publication Date: 2017-07-14

Variant appearance in text: APOB: T194M; rs13306198

PubMed Link: 28706299

Variant Present in the following documents:

• emm2017142x4.xls, sheet 1

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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: rs13306198

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: APOB: T194M

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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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: APOB: T194M; rs13306198

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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