Publications:

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The Digenic Causality in Familial Hypercholesterolemia: Revising the Genotype-Phenotype Correlations of the Disease.

Frontiers In Genetics

Kamar, Amina A; Khalil, Athar A; Nemer, Georges G

Publication Date: 2020

Variant appearance in text: LDLR: Gly20Arg

PubMed Link: 33519890

Variant Present in the following documents:

• Main text
• fgene-11-572045.pdf

View BVdb publication page

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Familial Hypercholesterolemia in Russia: Three Decades of Genetic Studies.

Frontiers In Genetics

Vasilyev, Vadim V; Zakharova, Faina F; Bogoslovskay, Tatiana T; Mandelshtam, Mikhail M

Publication Date: 2020

Variant appearance in text: LDLR: 58G>A; Gly20Arg

PubMed Link: 33391333

Variant Present in the following documents:

• Main text
• fgene-11-550591.pdf

View BVdb publication page

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Low Density Lipoprotein Receptor Variants in the Beta-Propeller Subdomain and Their Functional Impact.

Frontiers In Genetics

Dušková, Lucie L; Nohelová, Lucie L; Loja, Tomáš T; Fialová, Jana J; Zapletalová, Petra P; Réblová, Kamila K; Tichý, Lukáš L; Freiberger, Tomáš T; Fajkusová, Lenka L

Publication Date: 2020

Variant appearance in text: LDLR: Gly20Arg

PubMed Link: 32695144

Variant Present in the following documents:

• fgene-11-00691.pdf

View BVdb publication page

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Six years' experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias.

Bmc Medical Genomics

Dron, Jacqueline S JS; Wang, Jian J; McIntyre, Adam D AD; Iacocca, Michael A MA; Robinson, John F JF; Ban, Matthew R MR; Cao, Henian H; Hegele, Robert A RA

Publication Date: 2020-02-10

Variant appearance in text: LDLR: 58G>A; Gly20Arg

PubMed Link: 32041611

Variant Present in the following documents:

• 12920_2020_669_MOESM1_ESM.xlsx, sheet 3

View BVdb publication page

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Aortic valve calcium score in hypercholesterolemic patients with and without low-density lipoprotein receptor gene mutation.

Plos One

Gałąska, Rafal R; Kulawiak-Gałąska, Dorota D; Chmara, Magdalena M; Chlebus, Krzysztof K; Studniarek, Michał M; Fijałkowski, Marcin M; Wasąg, Bartosz B; Rynkiewicz, Andrzej A; Gruchała, Marcin M

Publication Date: 2018

Variant appearance in text: LDLR: G20R

PubMed Link: 30592719

Variant Present in the following documents:

• Main text
• pone.0209229.pdf

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: 58G>A; Gly20Arg

PubMed Link: 29874871

Variant Present in the following documents:

• Main text
• ijms-19-01676.pdf

View BVdb publication page

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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: 58G>A; Gly20Arg

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

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: 58G>A; Gly20Arg; rs147509697

PubMed Link: 28145427

Variant Present in the following documents:

• Main text

View BVdb publication page

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A Landscape of Pharmacogenomic Interactions in Cancer.

Cell

Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ

Publication Date: 2016-07-28

Variant appearance in text: LDLR: 58G>A

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 2

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: Gly20Arg; rs147509697

PubMed Link: 26415676

Variant Present in the following documents:

• Main text

View BVdb publication page

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Systematic cell-based phenotyping of missense alleles empowers rare variant association studies: a case for LDLR and myocardial infarction.

Plos Genetics

Thormaehlen, Aenne S AS; Schuberth, Christian C; Won, Hong-Hee HH; Blattmann, Peter P; Joggerst-Thomalla, Brigitte B; Theiss, Susanne S; Asselta, Rosanna R; Duga, Stefano S; Merlini, Pier Angelica PA; Ardissino, Diego D; Lander, Eric S ES; Gabriel, Stacey S; Rader, Daniel J DJ; Peloso, Gina M GM; Pepperkok, Rainer R; Kathiresan, Sekar S; Runz, Heiko H

Publication Date: 2015-02

Variant appearance in text: LDLR: G20R

PubMed Link: 25647241

Variant Present in the following documents:

• Main text
• pgen.1004855.pdf
• pgen.1004855.s019.xlsx, sheet 1

View BVdb publication page

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Sequencing an Ashkenazi reference panel supports population-targeted personal genomics and illuminates Jewish and European origins.

Nature Communications

Carmi, Shai S; Hui, Ken Y KY; Kochav, Ethan E; Liu, Xinmin X; Xue, James J; Grady, Fillan F; Guha, Saurav S; Upadhyay, Kinnari K; Ben-Avraham, Dan D; Mukherjee, Semanti S; Bowen, B Monica BM; Thomas, Tinu T; Vijai, Joseph J; Cruts, Marc M; Froyen, Guy G; Lambrechts, Diether D; Plaisance, Stéphane S; Van Broeckhoven, Christine C; Van Damme, Philip P; Van Marck, Herwig H; Barzilai, Nir N; Darvasi, Ariel A; Offit, Kenneth K; Bressman, Susan S; Ozelius, Laurie J LJ; Peter, Inga I; Cho, Judy H JH; Ostrer, Harry H; Atzmon, Gil G; Clark, Lorraine N LN; Lencz, Todd T; Pe'er, Itsik I

Publication Date: 2014-09-09

Variant appearance in text: LDLR: G20R

PubMed Link: 25203624

Variant Present in the following documents:

• ncomms5835-s5.xlsx, sheet 4

View BVdb publication page

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Familial hypercholesterolemia mutations in Petrozavodsk: no similarity to St. Petersburg mutation spectrum.

Bmc Medical Genetics

Komarova, Tatiana Yu TY; Korneva, Victoria A VA; Kuznetsova, Tatiana Yu TY; Golovina, Alexandra S AS; Vasilyev, Vadim B VB; Mandelshtam, Michail Yu MY

Publication Date: 2013-12-27

Variant appearance in text: LDLR: 58G>A; Gly20Arg

PubMed Link: 24373485

Variant Present in the following documents:

• Main text
• 1471-2350-14-128.pdf

View BVdb publication page

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