Publications:

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Calling and Phasing of Single-Nucleotide and Structural Variants of the LDLR Gene Using Oxford Nanopore MinION.

International Journal Of Molecular Sciences

Nazarenko, Maria S MS; Sleptcov, Aleksei A AA; Zarubin, Aleksei A AA; Salakhov, Ramil R RR; Shevchenko, Alexander I AI; Tmoyan, Narek A NA; Elisaphenko, Eugeny A EA; Zubkova, Ekaterina S ES; Zheltysheva, Nina V NV; Ezhov, Marat V MV; Kukharchuk, Valery V VV; Parfyonova, Yelena V YV; Zakian, Suren M SM; Zakharova, Irina S IS

Publication Date: 2023-02-24

Variant appearance in text: FH: 530C>T

PubMed Link: 36901902

Variant Present in the following documents:

• Main text

View BVdb publication page

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Shortcomings on genetic testing of Familial hypercholesterolemia (FH) in India: Can we collaborate to establish Indian FH registry?

Indian Heart Journal

Reddy, Lakshmi Lavanya LL; Shah, Swarup A V SAV; Ashavaid, Tester F TF

Publication Date: 2022

Variant appearance in text: FH: 530C>T

PubMed Link: 34875256

Variant Present in the following documents:

• main.pdf

View BVdb publication page

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Targeted sequencing of FH-deficient uterine leiomyomas reveals biallelic inactivating somatic fumarase variants and allows characterization of missense variants.

Modern Pathology : An Official Journal Of The United States And Canadian Academy Of Pathology, Inc

Popp, Bernt B; Erber, Ramona R; Kraus, Cornelia C; Vasileiou, Georgia G; Hoyer, Juliane J; Burghaus, Stefanie S; Hartmann, Arndt A; Beckmann, Matthias W MW; Reis, André A; Agaimy, Abbas A

Publication Date: 2020-11

Variant appearance in text: FH: 530C>T; Pro177Leu

PubMed Link: 32612247

Variant Present in the following documents:

• 41379_2020_596_MOESM2_ESM.xlsx, sheet 3

View BVdb publication page

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Verification of Underlying Genetic Cause in a Cohort of Russian Patients with Familial Hypercholesterolemia Using Targeted Next Generation Sequencing.

Journal Of Cardiovascular Development And Disease

Semenova, Anna E AE; Sergienko, Igor V IV; García-Giustiniani, Diego D; Monserrat, Lorenzo L; Popova, Anna B AB; Nozadze, Diana N DN; Ezhov, Marat V MV

Publication Date: 2020-05-14

Variant appearance in text: FH: 530C>T

PubMed Link: 32423031

Variant Present in the following documents:

• Main text
• jcdd-07-00016.pdf

View BVdb publication page

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A large peptidome dataset improves HLA class I epitope prediction across most of the human population.

Nature Biotechnology

Sarkizova, Siranush S; Klaeger, Susan S; Le, Phuong M PM; Li, Letitia W LW; Oliveira, Giacomo G; Keshishian, Hasmik H; Hartigan, Christina R CR; Zhang, Wandi W; Braun, David A DA; Ligon, Keith L KL; Bachireddy, Pavan P; Zervantonakis, Ioannis K IK; Rosenbluth, Jennifer M JM; Ouspenskaia, Tamara T; Law, Travis T; Justesen, Sune S; Stevens, Jonathan J; Lane, William J WJ; Eisenhaure, Thomas T; Lan Zhang, Guang G; Clauser, Karl R KR; Hacohen, Nir N; Carr, Steven A SA; Wu, Catherine J CJ; Keskin, Derin B DB

Publication Date: 2020-02

Variant appearance in text: FH: P177L

PubMed Link: 31844290

Variant Present in the following documents:

• NIHMS1541512-supplement-Sup_Data2.xlsx, sheet 4

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The panorama of familial hypercholesterolemia in Latin America: a systematic review.

Journal Of Lipid Research

Mehta, Roopa R; Zubirán, Rafael R; Martagón, Alexandro J AJ; Vazquez-Cárdenas, Alejandra A; Segura-Kato, Yayoi Y; Tusié-Luna, María Teresa MT; Aguilar-Salinas, Carlos A CA

Publication Date: 2016-12

Variant appearance in text: FH: 530C>T

PubMed Link: 27777316

Variant Present in the following documents:

• Main text

View BVdb publication page

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LDL-apheresis depletes apoE-HDL and pre-β1-HDL in familial hypercholesterolemia: relevance to atheroprotection.

Journal Of Lipid Research

Orsoni, Alexina A; Saheb, Samir S; Levels, Johannes H M JHM; Dallinga-Thie, Geesje G; Atassi, Marielle M; Bittar, Randa R; Robillard, Paul P; Bruckert, Eric E; Kontush, Anatol A; Carrié, Alain A; Chapman, M John MJ

Publication Date: 2011-12

Variant appearance in text: FH: 530C>T

PubMed Link: 21957200

Variant Present in the following documents:

• Main text

View BVdb publication page

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