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: 2120A>T; Asp707Val

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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Large-Scale Screening for Monogenic and Clinically Defined Familial Hypercholesterolemia in Iceland.

Arteriosclerosis, Thrombosis, And Vascular Biology

Björnsson, Eythór E; Thorgeirsson, Guðmundur G; Helgadóttir, Anna A; Thorleifsson, Guðmar G; Sveinbjörnsson, Garðar G; Kristmundsdóttir, Snaedís S; Jónsson, Hákon H; Jónasdóttir, Aðalbjörg A; Jónasdóttir, Áslaug Á; Sigurðsson, Ásgeir Á; Guðnason, Thórarinn T; Ólafsson, Ísleifur Í; Sigurðsson, Emil L EL; Sigurðardóttir, Ólöf Ó; Viðarsson, Brynjar B; Baldvinsson, Magnús M; Bjarnason, Ragnar R; Danielsen, Ragnar R; Matthíasson, Stefán E SE; Thórarinsson, Björn L BL; Grétarsdóttir, Sólveig S; Steinthórsdóttir, Valgerður V; Halldórsson, Bjarni V BV; Andersen, Karl K; Arnar, Davíð O DO; Jónsdóttir, Ingileif I; Guðbjartsson, Daníel F DF; Hólm, Hilma H; Thorsteinsdóttir, Unnur U; Sulem, Patrick P; Stefánsson, Kári K

Publication Date: 2021-10

Variant appearance in text: LDLR: Asp707Val

PubMed Link: 34407635

Variant Present in the following documents:

• atv-41-2616-s001.pdf
• atv-41-2616.pdf

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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: D707V

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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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: 2120A>T; Asp707Val

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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Mutation type classification and pathogenicity assignment of sixteen missense variants located in the EGF-precursor homology domain of the LDLR.

Scientific Reports

Galicia-Garcia, Unai U; Benito-Vicente, Asier A; Uribe, Kepa B KB; Jebari, Shifa S; Larrea-Sebal, Asier A; Alonso-Estrada, Rocio R; Aguilo-Arce, Joseba J; Ostolaza, Helena H; Palacios, Lourdes L; Martin, Cesar C

Publication Date: 2020-02-03

Variant appearance in text: LDLR: 2120A>T; Asp707Val

PubMed Link: 32015373

Variant Present in the following documents:

• 41598_2020_58734_MOESM1_ESM.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: LDLR: D707V

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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Molecular spectrum of autosomal dominant hypercholesterolemia in France.

Human Mutation

Marduel, Marie M; Carrié, Alain A; Sassolas, Agnes A; Devillers, Martine M; Carreau, Valérie V; Di Filippo, Mathilde M; Erlich, Danièle D; Abifadel, Marianne M; Marques-Pinheiro, Alice A; Munnich, Arnold A; Junien, Claudine C; , ; Boileau, Catherine C; Varret, Mathilde M; Rabès, Jean-Pierre JP

Publication Date: 2010-11

Variant appearance in text: LDLR: 2120A>T; Asp707Val

PubMed Link: 20809525

Variant Present in the following documents:

• Main text

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