Publications:

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Oxidized LDL-dependent pathway as new pathogenic trigger in arrhythmogenic cardiomyopathy.

Embo Molecular Medicine

Sommariva, Elena E; Stadiotti, Ilaria I; Casella, Michela M; Catto, Valentina V; Dello Russo, Antonio A; Carbucicchio, Corrado C; Arnaboldi, Lorenzo L; De Metrio, Simona S; Milano, Giuseppina G; Scopece, Alessandro A; Casaburo, Manuel M; Andreini, Daniele D; Mushtaq, Saima S; Conte, Edoardo E; Chiesa, Mattia M; Birchmeier, Walter W; Cogliati, Elisa E; Paolin, Adolfo A; König, Eva E; Meraviglia, Viviana V; De Musso, Monica M; Volani, Chiara C; Cattelan, Giada G; Rauhe, Werner W; Turnu, Linda L; Porro, Benedetta B; Pedrazzini, Matteo M; Camera, Marina M; Corsini, Alberto A; Tondo, Claudio C; Rossini, Alessandra A; Pompilio, Giulio G

Publication Date: 2021-09-07

Variant appearance in text: rs17248882

PubMed Link: 34337880

Variant Present in the following documents:

• EMMM-13-e14365-s004.pdf
• EMMM-13-e14365-s001.xlsx, sheet 3

View BVdb publication page

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The LDLR, APOB, and PCSK9 Variants of Index Patients with Familial Hypercholesterolemia in Russia.

Genes

Meshkov, Alexey A; Ershova, Alexandra A; Kiseleva, Anna A; Zotova, Evgenia E; Sotnikova, Evgeniia E; Petukhova, Anna A; Zharikova, Anastasia A; Malyshev, Pavel P; Rozhkova, Tatyana T; Blokhina, Anastasia A; Limonova, Alena A; Ramensky, Vasily V; Divashuk, Mikhail M; Khasanova, Zukhra Z; Bukaeva, Anna A; Kurilova, Olga O; Skirko, Olga O; Pokrovskaya, Maria M; Mikova, Valeriya V; Snigir, Ekaterina E; Akinshina, Alexsandra A; Mitrofanov, Sergey S; Kashtanova, Daria D; Makarov, Valentin V; Kukharchuk, Valeriy V; Boytsov, Sergey S; Yudin, Sergey S; Drapkina, Oxana O

Publication Date: 2021-01-06

Variant appearance in text: LDLR: 1706-10G>A; rs17248882

PubMed Link: 33418990

Variant Present in the following documents:

• Main text
• genes-12-00066.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: 1706-10G>A; rs17248882

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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Effects of Genetic Variants Associated with Familial Hypercholesterolemia on Low-Density Lipoprotein-Cholesterol Levels and Cardiovascular Outcomes in the Million Veteran Program.

Circulation. Genomic And Precision Medicine

Sun, Yan V YV; Damrauer, Scott M SM; Hui, Qin Q; Assimes, Themistocles L TL; Ho, Yuk-Lam YL; Natarajan, Pradeep P; Klarin, Derek D; Huang, Jie J; Lynch, Julie J; DuVall, Scott L SL; Pyarajan, Saiju S; Honerlaw, Jacqueline P JP; Gaziano, J Michael JM; Cho, Kelly K; Rader, Daniel J DJ; O'Donnell, Christopher J CJ; Tsao, Philip S PS; Wilson, Peter W F PWF

Publication Date: 2018-12

Variant appearance in text: rs17248882

PubMed Link: 31106297

Variant Present in the following documents:

• Main text

View BVdb publication page

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Variability in assigning pathogenicity to incidental findings: insights from LDLR sequence linked to the electronic health record in 1013 individuals.

European Journal Of Human Genetics : Ejhg

Safarova, Maya S MS; Klee, Eric W EW; Baudhuin, Linnea M LM; Winkler, Erin M EM; Kluge, Michelle L ML; Bielinski, Suzette J SJ; Olson, Janet E JE; Kullo, Iftikhar J IJ

Publication Date: 2017-04

Variant appearance in text: LDLR: 1706-10G>A; rs17248882

PubMed Link: 28145427

Variant Present in the following documents:

• Main text

View BVdb publication page

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Next-generation-sequencing-based identification of familial hypercholesterolemia-related mutations in subjects with increased LDL-C levels in a latvian population.

Bmc Medical Genetics

Radovica-Spalvina, Ilze I; Latkovskis, Gustavs G; Silamikelis, Ivars I; Fridmanis, Davids D; Elbere, Ilze I; Ventins, Karlis K; Ozola, Guna G; Erglis, Andrejs A; Klovins, Janis J

Publication Date: 2015-09-28

Variant appearance in text: LDLR: 1706-10G>A; rs17248882

PubMed Link: 26415676

Variant Present in the following documents:

• Main text
• 12881_2015_Article_230.pdf

View BVdb publication page

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Identification of Medically Actionable Secondary Findings in the 1000 Genomes.

Plos One

Olfson, Emily E; Cottrell, Catherine E CE; Davidson, Nicholas O NO; Gurnett, Christina A CA; Heusel, Jonathan W JW; Stitziel, Nathan O NO; Chen, Li-Shiun LS; Hartz, Sarah S; Nagarajan, Rakesh R; Saccone, Nancy L NL; Bierut, Laura J LJ

Publication Date: 2015

Variant appearance in text: LDLR: 1706-10G>A; rs17248882

PubMed Link: 26332594

Variant Present in the following documents:

• pone.0135193.s002.xls, sheet 1

View BVdb publication page

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Population genomic analysis of 962 whole genome sequences of humans reveals natural selection in non-coding regions.

Plos One

Yu, Fuli F; Lu, Jian J; Liu, Xiaoming X; Gazave, Elodie E; Chang, Diana D; Raj, Srilakshmi S; Hunter-Zinck, Haley H; Blekhman, Ran R; Arbiza, Leonardo L; Van Hout, Cris C; Morrison, Alanna A; Johnson, Andrew D AD; Bis, Joshua J; Cupples, L Adrienne LA; Psaty, Bruce M BM; Muzny, Donna D; Yu, Jin J; Gibbs, Richard A RA; Keinan, Alon A; Clark, Andrew G AG; Boerwinkle, Eric E

Publication Date: 2015

Variant appearance in text: rs17248882

PubMed Link: 25807536

Variant Present in the following documents:

• pone.0121644.s002.xls, sheet 1

View BVdb publication page

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