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: LDLRAP1: 406C>T; Gln136Ter

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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Efficacy of Long-Term Treatment of Autosomal Recessive Hypercholesterolemia With Lomitapide: A Subanalysis of the Pan-European Lomitapide Study.

Frontiers In Genetics

D'Erasmo, Laura L; Giammanco, Antonina A; Suppressa, Patrizia P; Pavanello, Chiara C; Iannuzzo, Gabriella G; Di Costanzo, Alessia A; Tramontano, Daniele D; Minicocci, Ilenia I; Bini, Simone S; Vogt, Anja A; Stewards, Kim K; Roeters Van Lennep, Jeanine J; Bertolini, Stefano S; Arca, Marcello M; ,

Publication Date: 2022

Variant appearance in text: ARH: 406C>T

PubMed Link: 36072671

Variant Present in the following documents:

• Main text
• fgene-13-937750.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: LDLRAP1: Q136X

PubMed Link: 33519890

Variant Present in the following documents:

• Main text
• fgene-11-572045.pdf

View BVdb publication page

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Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

American Journal Of Human Genetics

Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN

Publication Date: 2019-02-07

Variant appearance in text: LDLRAP1: Q136X; rs121908325

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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Premature Valvular Heart Disease in Homozygous Familial Hypercholesterolemia.

Cholesterol

Fahed, Akl C AC; Shibbani, Kamel K; Andary, Rabih R RR; Arabi, Mariam T MT; Habib, Robert H RH; Nguyen, Denis D DD; Haddad, Fady F FF; Moubarak, Elie E; Nemer, Georges G; Azar, Sami T ST; Bitar, Fadi F FF

Publication Date: 2017

Variant appearance in text: ARH: Q136X

PubMed Link: 28761763

Variant Present in the following documents:

• Main text
• CHOLESTEROL2017-3685265.pdf

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Variable expressivity and co-occurrence of LDLR and LDLRAP1 mutations in familial hypercholesterolemia: failure of the dominant and recessive dichotomy.

Molecular Genetics & Genomic Medicine

Fahed, Akl C AC; Khalaf, Ruby R; Salloum, Rony R; Andary, Rabih R RR; Safa, Raya R; El-Rassy, Inaam I; Moubarak, Elie E; Azar, Sami T ST; Bitar, Fadi F FF; Nemer, Georges G

Publication Date: 2016-05

Variant appearance in text: LDLRAP1: Q136*

PubMed Link: 27247956

Variant Present in the following documents:

• Main text
• MGG3-4-283.pdf

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Restoration of LDL receptor function in cells from patients with autosomal recessive hypercholesterolemia by retroviral expression of ARH1.

The Journal Of Clinical Investigation

Eden, Emily R ER; Patel, Dilipkumar D DD; Sun, Xi-Ming XM; Burden, Jemima J JJ; Themis, Michael M; Edwards, Matthew M; Lee, Philip P; Neuwirth, Clare C; Naoumova, Rossitza P RP; Soutar, Anne K AK

Publication Date: 2002-12

Variant appearance in text: ARH: Q136X

PubMed Link: 12464675

Variant Present in the following documents:

• Main text

View BVdb publication page

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