Publications:

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: LPL: 1306G>A; Gly436Arg

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

Severe hypertriglyceridemia due to two novel loss-of-function lipoprotein lipase gene mutations (C310R/E396V) in a Chinese family associated with recurrent acute pancreatitis.

Oncotarget

Lun, Yu Y; Sun, Xiaofang X; Wang, Ping P; Chi, Jingwei J; Hou, Xu X; Wang, Yangang Y

Publication Date: 2017-07-18

Variant appearance in text: LPL: G436R

PubMed Link: 28548960

Variant Present in the following documents:

• Main text
• oncotarget-08-47741.pdf

View BVdb publication page

Severe hypertriglyceridemia in a patient heterozygous for a lipoprotein lipase gene allele with two novel missense variants.

European Journal Of Human Genetics : Ejhg

Kassner, Ursula U; Salewsky, Bastian B; Wühle-Demuth, Marion M; Szijarto, Istvan Andras IA; Grenkowitz, Thomas T; Binner, Priska P; März, Winfried W; Steinhagen-Thiessen, Elisabeth E; Demuth, Ilja I

Publication Date: 2015-09

Variant appearance in text: LPL: 1306G>A; Gly436Arg; rs587777909

PubMed Link: 25585702

Variant Present in the following documents:

• Main text
• ejhg2014295a.pdf

View BVdb publication page