Publications:

Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.

Nature Communications

Akhavanfard, Sara S; Padmanabhan, Roshan R; Yehia, Lamis L; Cheng, Feixiong F; Eng, Charis C

Publication Date: 2020-05-05

Variant appearance in text: LPL: 998G>A; R333H

PubMed Link: 32371905

Variant Present in the following documents:

• 41467_2020_16067_MOESM23_ESM.xlsx, sheet 1
• 41467_2020_16067_MOESM12_ESM.xlsx, sheet 9

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Severe hypertriglyceridemia in Norway: prevalence, clinical and genetic characteristics.

Lipids In Health And Disease

Retterstøl, Kjetil K; Narverud, Ingunn I; Selmer, Randi R; Berge, Knut E KE; Osnes, Ingvild V IV; Ulven, Stine M SM; Halvorsen, Bente B; Aukrust, Pål P; Holven, Kirsten B KB; Iversen, Per O PO

Publication Date: 2017-06-12

Variant appearance in text: rs144466625

PubMed Link: 28606150

Variant Present in the following documents:

• Main text
• 12944_2017_Article_511.pdf

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The impact of tumor profiling approaches and genomic data strategies for cancer precision medicine.

Genome Medicine

Garofalo, Andrea A; Sholl, Lynette L; Reardon, Brendan B; Taylor-Weiner, Amaro A; Amin-Mansour, Ali A; Miao, Diana D; Liu, David D; Oliver, Nelly N; MacConaill, Laura L; Ducar, Matthew M; Rojas-Rudilla, Vanesa V; Giannakis, Marios M; Ghazani, Arezou A; Gray, Stacy S; Janne, Pasi P; Garber, Judy J; Joffe, Steve S; Lindeman, Neal N; Wagle, Nikhil N; Garraway, Levi A LA; Van Allen, Eliezer M EM

Publication Date: 2016-07-26

Variant appearance in text: LPL: 998G>A; R333H; rs144466625

PubMed Link: 27460824

Variant Present in the following documents:

• 13073_2016_333_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page