Publications:

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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: 1646G>A; Gly549Asp

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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Lomitapide does not alter PCSK9 and Lp(a) levels in homozygous familial hypercholesterolemia patients: Analysis on cytokines and lipid profile.

Atherosclerosis Plus

Lupo, Maria Giovanna MG; Arcidiacono, Diletta D; Zaramella, Alice A; Fimiani, Fabio F; Calabrò, Paolo P; Cefalù, Angelo Baldassare AB; Averna, Maurizio M; D'Erasmo, Laura L; Arca, Marcello M; De Martin, Sara S; Zambon, Alberto A; Ferri, Nicola N

Publication Date: 2021-09

Variant appearance in text: LDLR: 1646G>A

PubMed Link: 36644506

Variant Present in the following documents:

• main.pdf

View BVdb publication page

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Efficacy and Safety of Alirocumab in Children and Adolescents With Homozygous Familial Hypercholesterolemia: Phase 3, Multinational Open-Label Study.

Arteriosclerosis, Thrombosis, And Vascular Biology

Bruckert, Eric E; Caprio, Sonia S; Wiegman, Albert A; Charng, Min-Ji MJ; Zárate-Morales, Cézar A CA; Baccara-Dinet, Marie T MT; Manvelian, Garen G; Ourliac, Anne A; Scemama, Michel M; Daniels, Stephen R SR

Publication Date: 2022-12

Variant appearance in text: LDLR: 1646G>A; Gly549Asp

PubMed Link: 36325897

Variant Present in the following documents:

• atv-42-1447-s001.pdf

View BVdb publication page

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The Role of Registers in Increasing Knowledge and Improving Management of Children and Adolescents Affected by Familial Hypercholesterolemia: the LIPIGEN Pediatric Group.

Frontiers In Genetics

Gazzotti, Marta M; Casula, Manuela M; Bertolini, Stefano S; Capra, Maria Elena ME; Olmastroni, Elena E; Catapano, Alberico Luigi AL; Pederiva, Cristina C

Publication Date: 2022

Variant appearance in text: LDLR: 1646G>A; Gly549Asp

PubMed Link: 35795214

Variant Present in the following documents:

• Main text
• fgene-13-912510.pdf

View BVdb publication page

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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: 1646G>A; Gly549Asp; rs28941776

PubMed Link: 35194765

Variant Present in the following documents:

• Main text
• 12325_2021_2031_MOESM1_ESM.pdf

View BVdb publication page

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Integrative Analysis of Multi-Omics and Genetic Approaches-A New Level in Atherosclerotic Cardiovascular Risk Prediction.

Biomolecules

Usova, EIena I EI; Alieva, Asiiat S AS; Yakovlev, Alexey N AN; Alieva, Madina S MS; Prokhorikhin, Alexey A AA; Konradi, Alexandra O AO; Shlyakhto, Evgeny V EV; Magni, Paolo P; Catapano, Alberico L AL; Baragetti, Andrea A

Publication Date: 2021-10-28

Variant appearance in text: LDLR: 1646G>A; Gly549Asp

PubMed Link: 34827594

Variant Present in the following documents:

• Main text
• biomolecules-11-01597.pdf

View BVdb publication page

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Calibrated rare variant genetic risk scores for complex disease prediction using large exome sequence repositories.

Nature Communications

Lali, Ricky R; Chong, Michael M; Omidi, Arghavan A; Mohammadi-Shemirani, Pedrum P; Le, Ann A; Cui, Edward E; Paré, Guillaume G

Publication Date: 2021-10-06

Variant appearance in text: LDLR: G549D

PubMed Link: 34615865

Variant Present in the following documents:

• 41467_2021_26114_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Pharmacogenomics Variability of Lipid-Lowering Therapies in Familial Hypercholesterolemia.

Journal Of Personalized Medicine

Hindi, Nagham N NN; Alenbawi, Jamil J; Nemer, Georges G

Publication Date: 2021-08-31

Variant appearance in text: rs28941776

PubMed Link: 34575654

Variant Present in the following documents:

• Main text
• jpm-11-00877.pdf

View BVdb publication page

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The LDLR c.501C>A is a disease-causing variant in familial hypercholesterolemia.

Lipids In Health And Disease

Hu, Haochang H; Chen, Ruoyu R; Hu, Yingchu Y; Wang, Jian J; Lin, Shaoyi S; Chen, Xiaomin X

Publication Date: 2021-09-12

Variant appearance in text: LDLR: 1646G>A

PubMed Link: 34511120

Variant Present in the following documents:

• Main text
• 12944_2021_Article_1536.pdf

View BVdb publication page

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Genetic spectrum of familial hypercholesterolemia and correlations with clinical expression: Implications for diagnosis improvement.

Clinical Genetics

Di Taranto, Maria Donata MD; Giacobbe, Carola C; Palma, Daniela D; Iannuzzo, Gabriella G; Gentile, Marco M; Calcaterra, Ilenia I; Guardamagna, Ornella O; Auricchio, Renata R; Di Minno, Matteo Nicola Dario MND; Fortunato, Giuliana G

Publication Date: 2021-11

Variant appearance in text: LDLR: 1646G>A; Gly549Asp; rs28941776

PubMed Link: 34297352

Variant Present in the following documents:

• Main text
• CGE-100-529.pdf

View BVdb publication page

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Exposure to alirocumab during the first trimester of pregnancy: A case report.

Birth Defects Research

Vuignier, Yann Y; Beaud, Floriane F; Kosinski, Christophe C; Panchaud, Alice A; Lebon, Sébastien S; Baud, David D; Kissling, Sébastien S; Collet, Tinh-Hai TH

Publication Date: 2021-09-01

Variant appearance in text: LDLR: 1646G>A; Gly549Asp

PubMed Link: 34105316

Variant Present in the following documents:

• Main text
• BDR2-113-1156.pdf

View BVdb publication page

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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: 1646G>A; Gly549Asp

PubMed Link: 34037665

Variant Present in the following documents:

• jamacardiol-e211301-s001.pdf

View BVdb publication page

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Molecular Genetic Approach and Evaluation of Cardiovascular Events in Patients with Clinical Familial Hypercholesterolemia Phenotype from Romania.

Journal Of Clinical Medicine

Vlad, Cristiana-Elena CE; Foia, Liliana Georgeta LG; Popescu, Roxana R; Popa, Ioana I; Aanicai, Ruxandra R; Reurean-Pintilei, Delia D; Toma, Vasilica V; Florea, Laura L; Kanbay, Mehmet M; Covic, Adrian A

Publication Date: 2021-03-31

Variant appearance in text: LDLR: 1646G>A

PubMed Link: 33807407

Variant Present in the following documents:

• Main text
• jcm-10-01399.pdf

View BVdb publication page

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Late response to rosuvastatin and statin-related myalgia due to SLCO1B1, SLCO1B3, ABCB11, and CYP3A5 variants in a patient with Familial Hypercholesterolemia: a case report.

Annals Of Translational Medicine

Dagli-Hernandez, Carolina C; de Freitas, Renata Caroline Costa RCC; Marçal, Elisangela da Silva Rodrigues EDSR; Gonçalves, Rodrigo Marques RM; Faludi, Andre Arpad AA; Borges, Jéssica Bassani JB; Bastos, Gisele Medeiros GM; Los, Bruna B; Mori, Augusto Akira AA; Bortolin, Raul Hernandes RH; Ferreira, Glaucio Monteiro GM; de Oliveira, Victor Fernandes VF; Hirata, Thiago Dominguez Crespo TDC; Hirata, Mario Hiroyuki MH; Hirata, Rosario Dominguez Crespo RDC

Publication Date: 2021-01

Variant appearance in text: LDLR: 1646G>A; Gly549Asp; rs28941776

PubMed Link: 33553369

Variant Present in the following documents:

• Main text
• atm-09-01-76.pdf

View BVdb publication page

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Implementing genomic screening in diverse populations.

Genome Medicine

Abul-Husn, Noura S NS; Soper, Emily R ER; Braganza, Giovanna T GT; Rodriguez, Jessica E JE; Zeid, Natasha N; Cullina, Sinead S; Bobo, Dean D; Moscati, Arden A; Merkelson, Amanda A; Loos, Ruth J F RJF; Cho, Judy H JH; Belbin, Gillian M GM; Suckiel, Sabrina A SA; Kenny, Eimear E EE

Publication Date: 2021-02-05

Variant appearance in text: LDLR: 1646G>A; Gly549Asp

PubMed Link: 33546753

Variant Present in the following documents:

• 13073_2021_832_MOESM1_ESM.pdf

View BVdb publication page

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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: 1646G>A; Gly549Asp

PubMed Link: 33519890

Variant Present in the following documents:

• Main text
• fgene-11-572045.pdf

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: Gly549Asp; rs28941776

PubMed Link: 33418990

Variant Present in the following documents:

• Main text
• genes-12-00066.pdf

View BVdb publication page

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Genetic and Clinical Characteristics of Patients With Homozygous and Compound Heterozygous Familial Hypercholesterolemia From Three Different Populations: Case Series.

Frontiers In Genetics

Marusic, Tatiana T; Sustar, Ursa U; Sadiq, Fouzia F; Kotori, Vjosa V; Mlinaric, Matej M; Kovac, Jernej J; Shafi, Saeed S; Khan, Iqbal I; Cevc, Matija M; Trebusak Podkrajsek, Katarina K; Battelino, Tadej T; Groselj, Urh U

Publication Date: 2020

Variant appearance in text: LDLR: Gly549Asp

PubMed Link: 33093846

Variant Present in the following documents:

• Main text
• fgene-11-572176.pdf

View BVdb publication page

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Identification of pathogenic missense mutations using protein stability predictors.

Scientific Reports

Gerasimavicius, Lukas L; Liu, Xin X; Marsh, Joseph A JA

Publication Date: 2020-09-21

Variant appearance in text: LDLR: G549D

PubMed Link: 32958805

Variant Present in the following documents:

• 41598_2020_72404_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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Frequency of genomic secondary findings among 21,915 eMERGE network participants.

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

,

Publication Date: 2020-09

Variant appearance in text: LDLR: 1646G>A; Gly549Asp

PubMed Link: 32546831

Variant Present in the following documents:

• NIHMS1615423-supplement-Supplementary_Table_2.xlsx, sheet 1

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: 1646G>A; Gly549Asp

PubMed Link: 32041611

Variant Present in the following documents:

• 12920_2020_669_MOESM1_ESM.xlsx, sheet 4
• 12920_2020_669_MOESM1_ESM.xlsx, sheet 3

View BVdb publication page

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A Real-World Experience of Clinical, Biochemical and Genetic Assessment of Patients with Homozygous Familial Hypercholesterolemia.

Journal Of Clinical Medicine

Di Taranto, Maria Donata MD; Giacobbe, Carola C; Buonaiuto, Alessio A; Calcaterra, Ilenia I; Palma, Daniela D; Maione, Giovanna G; Iannuzzo, Gabriella G; Di Minno, Matteo Nicola Dario MND; Rubba, Paolo P; Fortunato, Giuliana G

Publication Date: 2020-01-14

Variant appearance in text: LDLR: 1646G>A; Gly549Asp

PubMed Link: 31947532

Variant Present in the following documents:

• Main text
• jcm-09-00219.pdf

View BVdb publication page

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Quantifying the polygenic contribution to variable expressivity in eleven rare genetic disorders.

Nature Communications

Oetjens, M T MT; Kelly, M A MA; Sturm, A C AC; Martin, C L CL; Ledbetter, D H DH

Publication Date: 2019-10-25

Variant appearance in text: LDLR: 1646G>A

PubMed Link: 31653860

Variant Present in the following documents:

• 41467_2019_12869_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Systematic analysis of the intersection of disease mutations with protein modifications.

Bmc Medical Genomics

Simpson, Claire M CM; Zhang, Bin B; Hornbeck, Peter V PV; Gnad, Florian F

Publication Date: 2019-07-25

Variant appearance in text: LDLR: G549D

PubMed Link: 31345222

Variant Present in the following documents:

• 12920_2019_543_MOESM6_ESM.xlsx, sheet 3

View BVdb publication page

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An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.

Database : The Journal Of Biological Databases And Curation

Famiglietti, M L ML; Estreicher, A A; Breuza, L L; Poux, S S; Redaschi, N N; Xenarios, I I; Bridge, A A; ,

Publication Date: 2019-01-01

Variant appearance in text: LDLR: 1646G>A; Gly549Asp

PubMed Link: 30937429

Variant Present in the following documents:

• famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1

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: 1646G>A; Gly549Asp

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: 1646G>A; Gly549Asp

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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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: 1646G>A; Gly549Asp

PubMed Link: 27170061

Variant Present in the following documents:

• Main text

View BVdb publication page

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: rs28941776

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: LDLR: G549D

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 4

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: G549D

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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Genetic diagnosis of familial hypercholesterolaemia by targeted next-generation sequencing.

Journal Of Internal Medicine

Maglio, C C; Mancina, R M RM; Motta, B M BM; Stef, M M; Pirazzi, C C; Palacios, L L; Askaryar, N N; Borén, J J; Wiklund, O O; Romeo, S S

Publication Date: 2014-10

Variant appearance in text: LDLR: Gly549Asp

PubMed Link: 24785115

Variant Present in the following documents:

View BVdb publication page

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An improved method on stimulated T-lymphocytes to functionally characterize novel and known LDLR mutations.

Journal Of Lipid Research

Romano, Maria M; Di Taranto, Maria Donata MD; Mirabelli, Peppino P; D'Agostino, Maria Nicoletta MN; Iannuzzi, Arcangelo A; Marotta, Gennaro G; Gentile, Marco M; Raia, Maddalena M; Di Noto, Rosa R; Del Vecchio, Luigi L; Rubba, Paolo P; Fortunato, Giuliana G

Publication Date: 2011-11

Variant appearance in text: LDLR: 1646G>A; Gly549Asp

PubMed Link: 21865347

Variant Present in the following documents:

• Main text

View BVdb publication page

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