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: 925_931delCCCATCA; Pro309Lysfs
Multiparametric platform for profiling lipid trafficking in human leukocytes.
Cell Reports Methods
Pfisterer, Simon G SG; Brock, Ivonne I; Kanerva, Kristiina K; Hlushchenko, Iryna I; Paavolainen, Lassi L; Ripatti, Pietari P; Islam, Mohammad Majharul MM; Kyttälä, Aija A; Di Taranto, Maria D MD; Scotto di Frega, Annalisa A; Fortunato, Giuliana G; Kuusisto, Johanna J; Horvath, Peter P; Ripatti, Samuli S; Laakso, Markku M; Ikonen, Elina E
Publication Date: 2022-02-28
Variant appearance in text: LDLR: 925_931del; Pro309Lysfs*59
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