Publications:

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: 1150C>T; Gln384Ter

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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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: Q384X

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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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: LDLR: 1150C>T; Q384*

PubMed Link: 24987033

Variant Present in the following documents:

• jmedgenet-2014-102405-s1.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: LDLR: 1150C>T; Q384X

PubMed Link: 23054246

Variant Present in the following documents:

• Main text
• jmedgenet-2012-101189.pdf

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