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: 551G>A; Cys184Tyr

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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Genetic Variant ABCC1 rs45511401 Is Associated with Increased Response to Statins in Patients with Familial Hypercholesterolemia.

Pharmaceutics

Dagli-Hernandez, Carolina C; Borges, Jéssica Bassani JB; Marçal, Elisangela da Silva Rodrigues EDSR; de Freitas, Renata Caroline Costa RCC; Mori, Augusto Akira AA; Gonçalves, Rodrigo Marques RM; Faludi, Andre Arpad AA; de Oliveira, Victor Fernandes VF; Ferreira, Glaucio Monteiro GM; Bastos, Gisele Medeiros GM; Zhou, Yitian Y; Lauschke, Volker M VM; Cerda, Alvaro A; Hirata, Mario Hiroyuki MH; Hirata, Rosario Dominguez Crespo RDC

Publication Date: 2022-04-27

Variant appearance in text: LDLR: 551G>A; Cys184Tyr; rs121908039

PubMed Link: 35631530

Variant Present in the following documents:

• pharmaceutics-14-00944.pdf

View BVdb publication page

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Association of the Interaction Between Familial Hypercholesterolemia Variants and Adherence to a Healthy Lifestyle With Risk of Coronary Artery Disease.

Jama Network Open

Fahed, Akl C AC; Wang, Minxian M; Patel, Aniruddh P AP; Ajufo, Ezimamaka E; Maamari, Dimitri J DJ; Aragam, Krishna G KG; Brockman, Deanna G DG; Vosburg, Trish T; Ellinor, Patrick T PT; Ng, Kenney K; Khera, Amit V AV

Publication Date: 2022-03-01

Variant appearance in text: LDLR: Cys184Tyr

PubMed Link: 35294538

Variant Present in the following documents:

• jamanetwopen-e222687-s001.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: 551G>A; Cys184Tyr; rs121908039

PubMed Link: 34297352

Variant Present in the following documents:

• Main text
• CGE-100-529.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: 551G>A; Cys184Tyr

PubMed Link: 34037665

Variant Present in the following documents:

• jamacardiol-e211301-s001.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: 551G>A; Cys184Tyr; rs121908039

PubMed Link: 33418990

Variant Present in the following documents:

• Main text
• genes-12-00066.pdf

View BVdb publication page

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Polygenic Contribution to Low-Density Lipoprotein Cholesterol Levels and Cardiovascular Risk in Monogenic Familial Hypercholesterolemia.

Circulation. Genomic And Precision Medicine

Trinder, Mark M; Paquette, Martine M; Cermakova, Lubomira L; Ban, Matthew R MR; Hegele, Robert A RA; Baass, Alexis A; Brunham, Liam R LR

Publication Date: 2020-10

Variant appearance in text: rs121908039

PubMed Link: 33079599

Variant Present in the following documents:

• hcg-13-515-s001.pdf

View BVdb publication page

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Polygenic background modifies penetrance of monogenic variants for tier 1 genomic conditions.

Nature Communications

Fahed, Akl C AC; Wang, Minxian M; Homburger, Julian R JR; Patel, Aniruddh P AP; Bick, Alexander G AG; Neben, Cynthia L CL; Lai, Carmen C; Brockman, Deanna D; Philippakis, Anthony A; Ellinor, Patrick T PT; Cassa, Christopher A CA; Lebo, Matthew M; Ng, Kenney K; Lander, Eric S ES; Zhou, Alicia Y AY; Kathiresan, Sekar S; Khera, Amit V AV

Publication Date: 2020-08-20

Variant appearance in text: LDLR: Cys184Tyr; rs121908039

PubMed Link: 32820175

Variant Present in the following documents:

• 41467_2020_17374_MOESM1_ESM.pdf

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: 551G>A; Cys184Tyr

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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Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.

Nature Communications

Akhavanfard, Sara S; Padmanabhan, Roshan R; Yehia, Lamis L; Cheng, Feixiong F; Eng, Charis C

Publication Date: 2020-05-05

Variant appearance in text: LDLR: 551G>A; C184Y

PubMed Link: 32371905

Variant Present in the following documents:

• 41467_2020_16067_MOESM6_ESM.xlsx, sheet 1
• 41467_2020_16067_MOESM23_ESM.xlsx, sheet 1
• 41467_2020_16067_MOESM12_ESM.xlsx, sheet 3

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: 551G>A; Cys184Tyr

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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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: 551G>A; Cys184Tyr

PubMed Link: 30937429

Variant Present in the following documents:

• famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1

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: 551G>A; Cys184Tyr

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

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: C184Y

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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Analysis of the frequency and spectrum of mutations recognised to cause familial hypercholesterolaemia in routine clinical practice in a UK specialist hospital lipid clinic.

Atherosclerosis

Futema, Marta M; Whittall, Ros A RA; Kiley, Amy A; Steel, Louisa K LK; Cooper, Jackie A JA; Badmus, Ebele E; Leigh, Sarah E SE; Karpe, Fredrik F; Neil, H Andrew W HA; , ; Humphries, Steve E SE

Publication Date: 2013-07

Variant appearance in text: LDLR: Cys184Tyr

PubMed Link: 23669246

Variant Present in the following documents:

• Main text

View BVdb publication page

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