Publications:

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Genetic and molecular architecture of familial hypercholesterolemia.

Journal Of Internal Medicine

Abifadel, Marianne M; Boileau, Catherine C

Publication Date: 2022-10-04

Variant appearance in text: APOB: Arg50Trp

PubMed Link: 36196022

Variant Present in the following documents:

• Main text
• JOIM-293-144.pdf

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Etiologic Puzzle of Coronary Artery Disease: How Important Is Genetic Component?

Life (Basel, Switzerland)

Butnariu, Lăcrămioara Ionela LI; Florea, Laura L; Badescu, Minerva Codruta MC; Țarcă, Elena E; Costache, Irina-Iuliana II; Gorduza, Eusebiu Vlad EV

Publication Date: 2022-06-09

Variant appearance in text: APOB: Arg50Trp

PubMed Link: 35743896

Variant Present in the following documents:

• Main text
• life-12-00865.pdf

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Protective lipid-lowering variants in healthy older individuals without coronary heart disease.

Open Heart

Lacaze, Paul P; Riaz, Moeen M; Sebra, Robert R; Hooper, Amanda J AJ; Pang, Jing J; Tiller, Jane J; Polekhina, Galina G; Tonkin, Andrew A; Reid, Chris C; Zoungas, Sophia S; Murray, Anne M AM; Nicholls, Stephen S; Watts, Gerald G; Schadt, Eric E; McNeil, John J JJ

Publication Date: 2021-07

Variant appearance in text: APOB: 148C>T; Arg50Trp; rs749903604

PubMed Link: 34341098

Variant Present in the following documents:

• openhrt-2021-001710supp001.xlsx, sheet 1

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Global genetic diversity of human apolipoproteins and effects on cardiovascular disease risk.

Journal Of Lipid Research

Zhou, Yitian Y; Mägi, Reedik R; Milani, Lili L; Lauschke, Volker M VM

Publication Date: 2018-10

Variant appearance in text: rs749903604

PubMed Link: 30076208

Variant Present in the following documents:

• 10.1194_P086710_jlr.P086710-4.xlsx, sheet 1

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New Sequencing technologies help revealing unexpected mutations in Autosomal Dominant Hypercholesterolemia.

Scientific Reports

Elbitar, Sandy S; Susan-Resiga, Delia D; Ghaleb, Youmna Y; El Khoury, Petra P; Peloso, Gina G; Stitziel, Nathan N; Rabès, Jean-Pierre JP; Carreau, Valérie V; Hamelin, Josée J; Ben-Djoudi-Ouadda, Ali A; Bruckert, Eric E; Boileau, Catherine C; Seidah, Nabil G NG; Varret, Mathilde M; Abifadel, Marianne M

Publication Date: 2018-01-31

Variant appearance in text: APOB: Arg50Trp

PubMed Link: 29386597

Variant Present in the following documents:

• Main text
• 41598_2018_Article_20281.pdf

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Genetic Architecture of Familial Hypercholesterolaemia.

Current Cardiology Reports

Sharifi, Mahtab M; Futema, Marta M; Nair, Devaki D; Humphries, Steve E SE

Publication Date: 2017-05

Variant appearance in text: APOB: Arg50Trp

PubMed Link: 28405938

Variant Present in the following documents:

• Main text
• 11886_2017_Article_848.pdf

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Structural analysis of APOB variants, p.(Arg3527Gln), p.(Arg1164Thr) and p.(Gln4494del), causing Familial Hypercholesterolaemia provides novel insights into variant pathogenicity.

Scientific Reports

Fernández-Higuero, J A JA; Etxebarria, A A; Benito-Vicente, A A; Alves, A C AC; Arrondo, J L R JL; Ostolaza, H H; Bourbon, M M; Martin, C C

Publication Date: 2015-12-08

Variant appearance in text: APOB: Arg50Trp

PubMed Link: 26643808

Variant Present in the following documents:

• Main text
• srep18184.pdf

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Whole exome sequencing of familial hypercholesterolaemia patients negative for LDLR/APOB/PCSK9 mutations.

Journal Of Medical Genetics

Futema, Marta M; Plagnol, Vincent V; Li, KaWah K; Whittall, Ros A RA; Neil, H Andrew W HA; Seed, Mary M; , ; Bertolini, Stefano S; Calandra, Sebastiano S; Descamps, Olivier S OS; Graham, Colin A CA; Hegele, Robert A RA; Karpe, Fredrik F; Durst, Ronen R; Leitersdorf, Eran E; Lench, Nicholas N; Nair, Devaki R DR; Soran, Handrean H; Van Bockxmeer, Frank M FM; , ; Humphries, Steve E SE

Publication Date: 2014-08

Variant appearance in text: APOB: 148C>T; R50W

PubMed Link: 24987033

Variant Present in the following documents:

• Main text
• jmedgenet-2014-102405-s1.pdf
• jmedgenet-2014-102405.pdf

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Identification and biochemical analysis of a novel APOB mutation that causes autosomal dominant hypercholesterolemia.

Molecular Genetics & Genomic Medicine

Thomas, Ellen R A ER; Atanur, Santosh S SS; Norsworthy, Penny J PJ; Encheva, Vesela V; Snijders, Ambrosius P AP; Game, Laurence L; Vandrovcova, Jana J; Siddiq, Afshan A; Seed, Mary M; Soutar, Anne K AK; Aitman, Timothy J TJ

Publication Date: 2013-09

Variant appearance in text: APOB: 148C>T; Arg50Trp

PubMed Link: 24498611

Variant Present in the following documents:

• Main text
• mgg30001-0155.pdf

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Use of targeted exome sequencing as a diagnostic tool for Familial Hypercholesterolaemia.

Journal Of Medical Genetics

Futema, Marta M; Plagnol, Vincent V; Whittall, Ros A RA; Neil, H Andrew W HA; , ; Humphries, Steve Eric SE; ,

Publication Date: 2012-10

Variant appearance in text: APOB: 148C>T; R50W

PubMed Link: 23054246

Variant Present in the following documents:

• jmedgenet-2012-101189-s1.pdf

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