Publications:

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Characterization of Polyvascular Disease in Heterozygous Familial Hypercholesterolemia: Its Association With Circulating Lipoprotein(a) Levels.

Journal Of The American Heart Association

Funabashi, Sayaka S; Kataoka, Yu Y; Hori, Mika M; Ogura, Masatsune M; Doi, Takahito T; Noguchi, Teruo T; Harada-Shiba, Mariko M

Publication Date: 2022-08-16

Variant appearance in text: LDLR: 344G>A; Arg115His; rs201102461

PubMed Link: 35929461

Variant Present in the following documents:

• JAH3-11-e025232.pdf
• JAH3-11-e025232-s001.pdf

View BVdb publication page

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Identification of clinically actionable secondary genetic variants from whole-genome sequencing in a large-scale Chinese population.

Clinical And Translational Medicine

Cong, Pei-Kuan PK; Khederzadeh, Saber S; Yuan, Cheng-Da CD; Ma, Rui-Jie RJ; Zhang, Yi-Yao YY; Liu, Jun-Quan JQ; Yu, Shi-Hui SH; Xu, Lin L; Gao, Jian-Hua JH; Pan, Hong-Xu HX; Li, Jin-Chen JC; Xie, Shu-Yang SY; Liu, Ke-Qi KQ; Tang, Bei-Sha BS; Zheng, Hou-Feng HF

Publication Date: 2022-05

Variant appearance in text: LDLR: 344G>A; Arg115His; rs201102461

PubMed Link: 35538921

Variant Present in the following documents:

• Main text
• CTM2-12-e866.pdf

View BVdb publication page

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Effects of Different Types of Pathogenic Variants on Phenotypes of Familial Hypercholesterolemia.

Frontiers In Genetics

Tada, Hayato H; Kojima, Nobuko N; Yamagami, Kan K; Nomura, Akihiro A; Nohara, Atsushi A; Usui, Soichiro S; Sakata, Kenji K; Fujino, Noboru N; Takamura, Masayuki M; Kawashiri, Masa-Aki MA

Publication Date: 2022

Variant appearance in text: LDLR: 344G>A; Arg115His

PubMed Link: 35480308

Variant Present in the following documents:

• Presentation1.pdf

View BVdb publication page

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Deciphering genes associated with diffuse large B-cell lymphoma with lymphomatous effusions: A mutational accumulation scoring approach.

Biomarker Research

Abdollahi, Sina S; Dehghanian, Seyedeh Zahra SZ; Hung, Liang-Yi LY; Yang, Shiang-Jie SJ; Chen, Dao-Peng DP; Medeiros, L Jeffrey LJ; Chiang, Jung-Hsien JH; Chang, Kung-Chao KC

Publication Date: 2021-10-09

Variant appearance in text: LDLR: R115H; rs201102461

PubMed Link: 34635181

Variant Present in the following documents:

• 40364_2021_330_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Actionable secondary findings in the 73 ACMG-recommended genes in 1559 Thai exomes.

Journal Of Human Genetics

Chetruengchai, Wanna W; Shotelersuk, Vorasuk V

Publication Date: 2022-03

Variant appearance in text: LDLR: 344G>A; Arg115His

PubMed Link: 34621001

Variant Present in the following documents:

• nihms-1795698.pdf

View BVdb publication page

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Familial Hypercholesterolemia in Patients with Acute Coronary Syndrome: Genetic Insights from EXPLORE-J.

Journal Of Atherosclerosis And Thrombosis

Harada-Shiba, Mariko M; Ako, Junya J; Hirayama, Atsushi A; Nakamura, Masato M; Nohara, Atsushi A; Sato, Kayoko K; Murakami, Yoshitaka Y; Koshida, Ryusuke R; Ozaki, Asuka A; Arai, Hidenori H

Publication Date: 2022-08-01

Variant appearance in text: LDLR: R115H

PubMed Link: 34526433

Variant Present in the following documents:

• jat-29-1201.pdf

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Genetic Analysis in a Taiwanese Cohort of 750 Index Patients with Clinically Diagnosed Familial Hypercholesterolemia.

Journal Of Atherosclerosis And Thrombosis

Huang, Chin-Chou CC; Niu, Dau-Ming DM; Charng, Min-Ji MJ

Publication Date: 2022-05-01

Variant appearance in text: LDLR: R115H; rs201102461

PubMed Link: 33994402

Variant Present in the following documents:

• jat-29-639.pdf

View BVdb publication page

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Characterizing sensitivity and coverage of clinical WGS as a diagnostic test for genetic disorders.

Bmc Medical Genomics

Sun, Yan Y; Liu, Fengxia F; Fan, Chunna C; Wang, Yaoshen Y; Song, Lijie L; Fang, Zhonghai Z; Han, Rui R; Wang, Zhonghua Z; Wang, Xiaodan X; Yang, Ziying Z; Xu, Zhenpeng Z; Peng, Jiguang J; Shi, Chaonan C; Zhang, Hongyun H; Dong, Wei W; Huang, Hui H; Li, Yun Y; Le, Yanqun Y; Sun, Jun J; Peng, Zhiyu Z

Publication Date: 2021-04-13

Variant appearance in text: LDLR: 344G>A

PubMed Link: 33849535

Variant Present in the following documents:

• 12920_2021_948_MOESM2_ESM.xlsx, sheet 7

View BVdb publication page

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Patients With LDLR and PCSK9 Gene Variants Experienced Higher Incidence of Cardiovascular Outcomes in Heterozygous Familial Hypercholesterolemia.

Journal Of The American Heart Association

Doi, Takahito T; Hori, Mika M; Harada-Shiba, Mariko M; Kataoka, Yu Y; Onozuka, Daisuke D; Nishimura, Kunihiro K; Nishikawa, Ryo R; Tsuda, Kosuke K; Ogura, Masatsune M; Son, Cheol C; Miyamoto, Yoshihiro Y; Noguchi, Teruo T; Shimokawa, Hiroaki H; Yasuda, Satoshi S

Publication Date: 2021-02-16

Variant appearance in text: LDLR: 344G>A; Arg115His; rs201102461

PubMed Link: 33533259

Variant Present in the following documents:

• JAH3-10-e018263.pdf
• JAH3-10-e018263-s001.pdf

View BVdb publication page

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The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cell Research

Cao, Yanan Y; Li, Lin L; Xu, Min M; Feng, Zhimin Z; Sun, Xiaohui X; Lu, Jieli J; Xu, Yu Y; Du, Peina P; Wang, Tiange T; Hu, Ruying R; Ye, Zhen Z; Shi, Lixin L; Tang, Xulei X; Yan, Li L; Gao, Zhengnan Z; Chen, Gang G; Zhang, Yinfei Y; Chen, Lulu L; Ning, Guang G; Bi, Yufang Y; Wang, Weiqing W; ,

Publication Date: 2020-09

Variant appearance in text: LDLR: 344G>A; Arg115His; rs201102461

PubMed Link: 32355288

Variant Present in the following documents:

• 41422_2020_322_MOESM14_ESM.xlsx, sheet 1

View BVdb publication page

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The benign c.344G > A: p.(Arg115His) variant in the LDLR gene interpreted from a pedigree-based genetic analysis of familial hypercholesterolemia.

Lipids In Health And Disease

Hori, Mika M; Takahashi, Atsushi A; Son, Cheol C; Ogura, Masatsune M; Harada-Shiba, Mariko M

Publication Date: 2020-04-06

Variant appearance in text: LDLR: 344G>A; Arg115His

PubMed Link: 32252761

Variant Present in the following documents:

• Main text
• 12944_2020_Article_1252.pdf

View BVdb publication page

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Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

American Journal Of Human Genetics

Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN

Publication Date: 2019-02-07

Variant appearance in text: LDLR: R115H; rs201102461

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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Validation of LDLr Activity as a Tool to Improve Genetic Diagnosis of Familial Hypercholesterolemia: A Retrospective on Functional Characterization of LDLr Variants.

International Journal Of Molecular Sciences

Benito-Vicente, Asier A; Uribe, Kepa B KB; Jebari, Shifa S; Galicia-Garcia, Unai U; Ostolaza, Helena H; Martin, Cesar C

Publication Date: 2018-06-05

Variant appearance in text: LDLR: 344G>A; Arg115His

PubMed Link: 29874871

Variant Present in the following documents:

• Main text
• ijms-19-01676.pdf

View BVdb publication page

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Detection of Familial Hypercholesterolemia Using Next Generation Sequencing in Two Population-Based Cohorts.

Chonnam Medical Journal

Kim, Hee Nam HN; Kweon, Sun-Seog SS; Shin, Min-Ho MH

Publication Date: 2018-01

Variant appearance in text: LDLR: Arg115His; rs201102461

PubMed Link: 29399563

Variant Present in the following documents:

• Main text
• cmj-54-31.pdf

View BVdb publication page

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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: LDLR: R115H

PubMed Link: 28706299

Variant Present in the following documents:

• emm2017142x5.xls, sheet 1
• emm2017142x4.xls, sheet 1

View BVdb publication page

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The UCL low-density lipoprotein receptor gene variant database: pathogenicity update.

Journal Of Medical Genetics

Leigh, Sarah S; Futema, Marta M; Whittall, Ros R; Taylor-Beadling, Alison A; Williams, Maggie M; den Dunnen, Johan T JT; Humphries, Steve E SE

Publication Date: 2017-04

Variant appearance in text: LDLR: 344G>A; Arg115His

PubMed Link: 27821657

Variant Present in the following documents:

• Main text
• jmedgenet-2016-104054.pdf

View BVdb publication page

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The distribution and characteristics of LDL receptor mutations in China: A systematic review.

Scientific Reports

Jiang, Long L; Sun, Li-Yuan LY; Dai, Yan-Fang YF; Yang, Shi-Wei SW; Zhang, Feng F; Wang, Lu-Ya LY

Publication Date: 2015-11-26

Variant appearance in text: LDLR: 344G>A

PubMed Link: 26608663

Variant Present in the following documents:

View BVdb publication page

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