Publications:

Exome sequencing in fetuses with short long bones detected by ultrasonography: A retrospective cohort study.

Frontiers In Genetics

Huang, Yanlin Y; Liu, Chang C; Ding, Hongke H; Wang, Yunan Y; Yu, Lihua L; Guo, Fangfang F; Li, Fake F; Shi, Xiaomei X; Zhang, Yan Y; Yin, Aihua A

Publication Date: 2023

Variant appearance in text: PCSK9: 1954A>G; Asn652Asp

PubMed Link: 36923788

Variant Present in the following documents:

• Table3.xlsx, sheet 1

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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: PCSK9: N652D; rs201280059

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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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: PCSK9: N652D

PubMed Link: 34526433

Variant Present in the following documents:

• jat-29-1201.pdf

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Effects of familial hypercholesterolemia-associated genes on the phenotype of premature myocardial infarction.

Lipids In Health And Disease

Lee, Chongyou C; Cui, Yuxia Y; Song, Junxian J; Li, Sufang S; Zhang, Feng F; Wu, Manyan M; Li, Long L; Hu, Dan D; Chen, Hong H

Publication Date: 2019-04-11

Variant appearance in text: PCSK9: 1954A>G; Asn652Asp

PubMed Link: 30971288

Variant Present in the following documents:

• Main text
• 12944_2019_Article_1042.pdf

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Application of expanded genetic analysis in the diagnosis of familial hypercholesterolemia in patients with very early-onset coronary artery disease.

Journal Of Translational Medicine

Cao, Ye-Xuan YX; Wu, Na-Qiong NQ; Sun, Di D; Liu, Hui-Hui HH; Jin, Jing-Lu JL; Li, Sha S; Guo, Yuan-Lin YL; Zhu, Cheng-Gang CG; Gao, Ying Y; Dong, Qiu-Ting QT; Liu, Geng G; Dong, Qian Q; Li, Jian-Jun JJ

Publication Date: 2018-12-10

Variant appearance in text: PCSK9: 1954A>G

PubMed Link: 30526649

Variant Present in the following documents:

• 12967_2018_1737_MOESM1_ESM.pdf

View BVdb publication page