Publications:

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Genotypic and phenotypic features of dyslipidemia in a sample of pediatric patients in China.

Bmc Pediatrics

Zhang, Qianwen Q; Chang, Guoying G; Tang, Yijun Y; Gu, Shili S; Ding, Yu Y; Chen, Yao Y; Wang, Yirou Y; Liu, Shijian S; Wang, Jian J; Wang, Xiumin X

Publication Date: 2023-03-29

Variant appearance in text: LDLR: 1448G>A; Trp483*

PubMed Link: 36991406

Variant Present in the following documents:

• Main text
• 12887_2023_Article_3952.pdf

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Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: LDLR: 1448G>A; Trp483Ter

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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Low-density lipoprotein receptor genotypes modify the sera metabolome of patients with homozygous familial hypercholesterolemia.

Iscience

Du, Zhiyong Z; Li, Fan F; Li, Linyi L; Wang, Yu Y; Li, Jianping J; Yang, Ya Y; Jiang, Long L; Wang, Luya L; Qin, Yanwen Y

Publication Date: 2022-11-18

Variant appearance in text: LDLR: 1448G>A; Trp483Ter

PubMed Link: 36325061

Variant Present in the following documents:

• mmc2.xlsx, sheet 1

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Expanding the genetic spectrum for Chinese familial hypercholesterolemia population with six genetic mutations identified using a next-generation sequencing-based laboratory-developed screening test.

Molecular Genetics & Genomic Medicine

Jingxin, Shan S; Shitong, Cheng C

Publication Date: 2022-10-13

Variant appearance in text: LDLR: W483X

PubMed Link: 36226792

Variant Present in the following documents:

• MGG3-10-e2070.pdf

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Prevalence of genetically defined familial hypercholesterolemia and the impact on acute myocardial infarction in Taiwanese population: A hospital-based study.

Frontiers In Cardiovascular Medicine

Chen, Yen-Ju YJ; Chen, I-Chieh IC; Chen, Yi-Ming YM; Hsiao, Tzu-Hung TH; Wei, Chia-Yi CY; Chuang, Han-Ni HN; Lin, Wei-Wen WW; Lin, Ching-Heng CH

Publication Date: 2022

Variant appearance in text: rs875989921

PubMed Link: 36172582

Variant Present in the following documents:

• Main text
• fcvm-09-994662.pdf

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Exome sequencing identifies rare mutations of LDLR and QTRT1 conferring risk for early-onset coronary artery disease in Chinese.

National Science Review

Yao, Kang K; Dai, Yuxiang Y; Shen, Juan J; Wang, Yi Y; Yang, Huanjie H; Wu, Runda R; Liao, Qijun Q; Wu, Hongyi H; Fang, Xiaodong X; Shali, Shalaimaiti S; Xu, Lili L; Hao, Meng M; Lin, Chenhao C; Sun, Zhonghan Z; Liu, Yilian Y; Li, Mengxin M; Wang, Zhen Z; Gao, Qiang Q; Zhang, Shuning S; Li, Chenguang C; Gao, Wei W; Ge, Lei L; Zou, Yunzeng Y; Sun, Aijun A; Qian, Juying J; Jin, Li L; Hong, Shangyu S; Zheng, Yan Y; Ge, Junbo J

Publication Date: 2022-08

Variant appearance in text: LDLR: W483X; rs875989921

PubMed Link: 36060302

Variant Present in the following documents:

• Main text
• nwac102.pdf

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Prevalence and prognosis of molecularly defined familial hypercholesterolemia in patients with acute coronary syndrome.

Frontiers In Cardiovascular Medicine

Wang, Cheng C; Yu, Puliang P; Hu, Lizhi L; Liang, Minglu M; Mao, Yi Y; Zeng, Qiutang Q; Wang, Xiang X; Huang, Kai K; Yan, Jin J; Xie, Li L; Zhang, Fengxiao F; Zhu, Feng F

Publication Date: 2022

Variant appearance in text: LDLR: W483X

PubMed Link: 35966514

Variant Present in the following documents:

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A Case Series Assessing the Effects of Lomitapide on Carotid Intima-Media Thickness in Adult Patients with Homozygous Familial Hypercholesterolaemia in a Real-World Setting.

Advances In Therapy

Blom, Dirk J DJ; Gaudet, Daniel D; Hegele, Robert A RA; Patel, Dharmesh S DS; Cegla, Jaimini J; Kolovou, Genovefa G; Marin, Luis Masana LM

Publication Date: 2022-04

Variant appearance in text: LDLR: 1448G>A; Trp483Ter; rs875989921

PubMed Link: 35194765

Variant Present in the following documents:

• Main text
• 12325_2021_2031_MOESM1_ESM.pdf

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PCSK9 Gene Participates in the Development of Primary Dyslipidemias.

Balkan Journal Of Medical Genetics : Bjmg

Matías-Pérez, D D; Pérez-Santiago, A D AD; Sánchez Medina, M A MA; Alpuche Osorno, J J JJ; García-Montalvo, I A IA

Publication Date: 2021-06

Variant appearance in text: LDLR: W483X

PubMed Link: 34447653

Variant Present in the following documents:

• bjmg-24-005.pdf

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Limited-Variant Screening vs Comprehensive Genetic Testing for Familial Hypercholesterolemia Diagnosis.

Jama Cardiology

Sturm, Amy C AC; Truty, Rebecca R; Callis, Thomas E TE; Aguilar, Sienna S; Esplin, Edward D ED; Garcia, Sarah S; Haverfield, Eden V EV; Morales, Ana A; Nussbaum, Robert L RL; Rojahn, Susan S; Vatta, Matteo M; Rader, Daniel J DJ

Publication Date: 2021-08-01

Variant appearance in text: LDLR: 1448G>A; Trp483*

PubMed Link: 34037665

Variant Present in the following documents:

• jamacardiol-e211301-s001.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: W483X; rs875989921

PubMed Link: 33994402

Variant Present in the following documents:

• jat-29-639.pdf

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Familial Hypercholesterolemia in Asia Pacific: A Review of Epidemiology, Diagnosis, and Management in the Region.

Journal Of Atherosclerosis And Thrombosis

Kalra, Sanjay S; Chen, Zhenyue Z; Deerochanawong, Chaicharn C; Shyu, Kou-Gi KG; Tan, Ru San RS; Tomlinson, Brian B; Yeh, Hung-I HI

Publication Date: 2021-05-01

Variant appearance in text: LDLR: Trp483X

PubMed Link: 33746137

Variant Present in the following documents:

• Main text
• 28_417.pdf

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Polygenic Contribution to Low-Density Lipoprotein Cholesterol Levels and Cardiovascular Risk in Monogenic Familial Hypercholesterolemia.

Circulation. Genomic And Precision Medicine

Trinder, Mark M; Paquette, Martine M; Cermakova, Lubomira L; Ban, Matthew R MR; Hegele, Robert A RA; Baass, Alexis A; Brunham, Liam R LR

Publication Date: 2020-10

Variant appearance in text: rs875989921

PubMed Link: 33079599

Variant Present in the following documents:

• hcg-13-515-s001.pdf

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Hsa-miRNA-23a-3p promotes atherogenesis in a novel mouse model of atherosclerosis.

Journal Of Lipid Research

Guo, Jiayan J; Mei, Hanbing H; Sheng, Zhen Z; Meng, Qingyuan Q; Véniant, Murielle M MM; Yin, Hong H

Publication Date: 2020-12

Variant appearance in text: LDLR: W483X

PubMed Link: 33008925

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic Diagnosis of Familial Hypercholesterolemia in Asia.

Frontiers In Genetics

Huang, Chin-Chou CC; Charng, Min-Ji MJ

Publication Date: 2020

Variant appearance in text: LDLR: 1448G>A; W483X

PubMed Link: 32793292

Variant Present in the following documents:

• Main text

View BVdb publication page

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Targeted Genetic Analysis in a Chinese Cohort of 208 Patients Related to Familial Hypercholesterolemia.

Journal Of Atherosclerosis And Thrombosis

Wang, Hao H; Yang, Hang H; Liu, Zhaohui Z; Cui, Kai K; Zhang, Yinhui Y; Zhang, Yujing Y; Zhao, Kun K; Yin, Kunlun K; Li, Wenke W; Zhou, Zhou Z

Publication Date: 2020-12-01

Variant appearance in text: LDLR: 1448G>A; Trp483Ter

PubMed Link: 32759540

Variant Present in the following documents:

• Main text
• jat-27-1288.pdf

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In silico prediction of blood cholesterol levels from genotype data.

Plos One

Reggiani, Francesco F; Carraro, Marco M; Belligoli, Anna A; Sanna, Marta M; Dal Prà, Chiara C; Favaretto, Francesca F; Ferrari, Carlo C; Vettor, Roberto R; Tosatto, Silvio C E SCE

Publication Date: 2020

Variant appearance in text: LDLR: Trp483*

PubMed Link: 32040480

Variant Present in the following documents:

• pone.0227191.s001.xlsx, sheet 1

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A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.

Molecular Genetics & Genomic Medicine

Zheng, Jianchao J; Zhang, Hongyun H; Banerjee, Santasree S; Li, Yun Y; Zhou, Junyu J; Yang, Qian Q; Tan, Xuemei X; Han, Peng P; Fu, Qinmei Q; Cui, Xiaoli X; Yuan, Yuying Y; Zhang, Meiyan M; Shen, Ruiqin R; Song, Haifeng H; Zhang, Xiuqing X; Zhao, Lijian L; Peng, Zhiyu Z; Wang, Wei W; Yin, Ye Y

Publication Date: 2019-07

Variant appearance in text: LDLR: 1448G>A; Trp483Ter

PubMed Link: 31165590

Variant Present in the following documents:

• MGG3-7-e00748-s004.xlsx, sheet 1

View BVdb publication page

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Current Status of Familial Hypercholesterolemia in China: A Need for Patient FH Registry Systems.

Frontiers In Physiology

Chen, Peipei P; Chen, Xi X; Zhang, Shuyang S

Publication Date: 2019

Variant appearance in text: LDLR: 1448G>A; Trp483X

PubMed Link: 30949068

Variant Present in the following documents:

• Main text
• fphys-10-00280.pdf

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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: W483X

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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Genetic basis of index patients with familial hypercholesterolemia in Chinese population: mutation spectrum and genotype-phenotype correlation.

Lipids In Health And Disease

Sun, Di D; Zhou, Bing-Yang BY; Li, Sha S; Sun, Ning-Ling NL; Hua, Qi Q; Wu, Shu-Lin SL; Cao, Yun-Shan YS; Guo, Yuan-Lin YL; Wu, Na-Qiong NQ; Zhu, Cheng-Gang CG; Gao, Ying Y; Cui, Chuan-Jue CJ; Liu, Geng G; Li, Jian-Jun JJ

Publication Date: 2018-11-06

Variant appearance in text: LDLR: 1448G>A; W483X

PubMed Link: 30400955

Variant Present in the following documents:

• Main text
• 12944_2018_Article_900.pdf

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Genetically confirmed familial hypercholesterolemia in outpatients with hypercholesterolemia.

Journal Of Geriatric Cardiology : Jgc

Wang, Xu X; Jiang, Long L; Sun, Li-Yuan LY; Wu, Yue Y; Wen, Wen-Hui WH; Wang, Xi-Fu XF; Liu, Wei W; Zhou, Yu-Jie YJ; Wang, Lu-Ya LY

Publication Date: 2018-06

Variant appearance in text: LDLR: 1448G>A; Trp483X

PubMed Link: 30108616

Variant Present in the following documents:

• Main text
• jgc-15-06-434-s001.pdf
• jgc-15-06-434.pdf

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Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: LDLR: 1448G>A; Trp483Ter

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Mutation detection in Chinese patients with familial hypercholesterolemia.

Springerplus

Du, Ran R; Fan, Liang-Liang LL; Lin, Min-Jie MJ; He, Zhi-Jian ZJ; Huang, Hao H; Chen, Ya-Qin YQ; Li, Jing-Jing JJ; Xia, Kun K; Zhao, Shui-Ping SP; Xiang, Rong R

Publication Date: 2016

Variant appearance in text: LDLR: 1448G>A; W483X

PubMed Link: 28028493

Variant Present in the following documents:

• Main text
• 40064_2016_Article_3763.pdf

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The use of targeted exome sequencing in genetic diagnosis of young patients with severe hypercholesterolemia.

Scientific Reports

Jiang, Long L; Wu, Wen-Feng WF; Sun, Li-Yuan LY; Chen, Pan-Pan PP; Wang, Wei W; Benito-Vicente, Asier A; Zhang, Fan F; Pan, Xiao-Dong XD; Cui, Wei W; Yang, Shi-Wei SW; Zhou, Yu-Jie YJ; Martin, Cesar C; Wang, Lu-Ya LY

Publication Date: 2016-11-10

Variant appearance in text: LDLR: W483X

PubMed Link: 27830735

Variant Present in the following documents:

• Main text
• srep36823.pdf

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MTP Gene Variants and Response to Lomitapide in Patients with Homozygous Familial Hypercholesterolemia.

Journal Of Atherosclerosis And Thrombosis

Kolovou, Genovefa D GD; Kolovou, Vana V; Papadopoulou, Anna A; Watts, Gerald F GF

Publication Date: 2016-07-01

Variant appearance in text: LDLR: 1448G>A; Trp483X

PubMed Link: 27170061

Variant Present in the following documents:

• Main text

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: 1448G>A

PubMed Link: 26608663

Variant Present in the following documents:

• Main text
• srep17272.pdf

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