Multiomics study of nonalcoholic fatty liver disease.
Nature Genetics
Sveinbjornsson, Gardar G; Ulfarsson, Magnus O MO; Thorolfsdottir, Rosa B RB; Jonsson, Benedikt A BA; Einarsson, Eythor E; Gunnlaugsson, Gylfi G; Rognvaldsson, Solvi S; Arnar, David O DO; Baldvinsson, Magnus M; Bjarnason, Ragnar G RG; , ; Eiriksdottir, Thjodbjorg T; Erikstrup, Christian C; Ferkingstad, Egil E; Halldorsson, Gisli H GH; Helgason, Hannes H; Helgadottir, Anna A; Hindhede, Lotte L; Hjorleifsson, Grimur G; Jones, David D; Knowlton, Kirk U KU; Lund, Sigrun H SH; Melsted, Pall P; Norland, Kristjan K; Olafsson, Isleifur I; Olafsson, Sigurdur S; Oskarsson, Gudjon R GR; Ostrowski, Sisse Rye SR; Pedersen, Ole Birger OB; Snaebjarnarson, Auðunn S AS; Sigurdsson, Emil E; Steinthorsdottir, Valgerdur V; Schwinn, Michael M; Thorgeirsson, Gudmundur G; Thorleifsson, Gudmar G; Jonsdottir, Ingileif I; Bundgaard, Henning H; Nadauld, Lincoln L; Bjornsson, Einar S ES; Rulifson, Ingrid C IC; Rafnar, Thorunn T; Norddahl, Gudmundur L GL; Thorsteinsdottir, Unnur U; Sulem, Patrick P; Gudbjartsson, Daniel F DF; Holm, Hilma H; Stefansson, Kari K
Publication Date: 2022-11
Variant appearance in text: PNPLA2: Asn252Lys; rs140201358
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: PNPLA2: 756C>G; Asn252Lys
Whole-exon sequencing of human myeloma cell lines shows mutations related to myeloma patients at relapse with major hits in the DNA regulation and repair pathways.
Journal Of Hematology & Oncology
Tessoulin, Benoît B; Moreau-Aubry, Agnès A; Descamps, Géraldine G; Gomez-Bougie, Patricia P; Maïga, Sophie S; Gaignard, Alban A; Chiron, David D; Ménoret, Emmanuelle E; Le Gouill, Steven S; Moreau, Philippe P; Amiot, Martine M; Pellat-Deceunynck, Catherine C
Genomic and Transcriptomic Characterization Links Cell Lines with Aggressive Head and Neck Cancers.
Cell Reports
Cheng, Hui H; Yang, Xinping X; Si, Han H; Saleh, Anthony D AD; Xiao, Wenming W; Coupar, Jamie J; Gollin, Susanne M SM; Ferris, Robert L RL; Issaeva, Natalia N; Yarbrough, Wendell G WG; Prince, Mark E ME; Carey, Thomas E TE; Van Waes, Carter C; Chen, Zhong Z
Publication Date: 2018-10-30
Variant appearance in text: PNPLA2: N252K; rs140201358
Investigation and functional characterization of rare genetic variants in the adipose triglyceride lipase in a large healthy working population.
Plos Genetics
Coassin, Stefan S; Schweiger, Martina M; Kloss-Brandstätter, Anita A; Lamina, Claudia C; Haun, Margot M; Erhart, Gertraud G; Paulweber, Bernhard B; Rahman, Yusof Y; Olpin, Simon S; Wolinski, Heimo H; Cornaciu, Irina I; Zechner, Rudolf R; Zimmermann, Robert R; Kronenberg, Florian F