Publications:

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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: LPL: 808C>T; Arg270Cys

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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Analysis of Rare Variants in Genes Related to Lipid Metabolism in Patients with Familial Hypercholesterolemia in Western Siberia (Russia).

Journal Of Personalized Medicine

Shakhtshneider, Elena E; Ivanoshchuk, Dinara D; Timoshchenko, Olga O; Orlov, Pavel P; Semaev, Sergey S; Valeev, Emil E; Goonko, Andrew A; Ladygina, Nataliya N; Voevoda, Mikhail M

Publication Date: 2021-11-19

Variant appearance in text: LPL: 808C>T; Arg270Cys; rs118204077

PubMed Link: 34834584

Variant Present in the following documents:

• Main text
• jpm-11-01232.pdf

View BVdb publication page

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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: 808C>T; Arg270Cys

PubMed Link: 32041611

Variant Present in the following documents:

• 12920_2020_669_MOESM1_ESM.xlsx, sheet 3
• 12920_2020_669_MOESM1_ESM.xlsx, sheet 4

View BVdb publication page

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Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.

Plos Genetics

Capalbo, Antonio A; Valero, Roberto Alonso RA; Jimenez-Almazan, Jorge J; Pardo, Pere Mir PM; Fabiani, Marco M; Jiménez, David D; Simon, Carlos C; Rodriguez, Julio Martin JM

Publication Date: 2019-10

Variant appearance in text: LPL: 808C>T; Arg270Cys; rs118204077

PubMed Link: 31589614

Variant Present in the following documents:

• pgen.1008409.s001.xlsx, sheet 1

View BVdb publication page

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Rare LPL gene missense mutation in an infant with hypertriglyceridemia.

Journal Of Clinical Laboratory Analysis

Qin, Yuan-Yuan YY; Wei, Ai-Qiu AQ; Shan, Qing-Wen QW; Xian, Xiao-Ying XY; Wu, Yang-Yang YY; Liao, Lin L; Yan, Jie J; Lai, Zhan-Feng ZF; Lin, Fa-Quan FQ

Publication Date: 2018-07

Variant appearance in text: LPL: R270C

PubMed Link: 29479812

Variant Present in the following documents:

• Main text

View BVdb publication page

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Estimating the mutational load for cardiovascular diseases in Pakistani population.

Plos One

Shakeel, Muhammad M; Irfan, Muhammad M; Khan, Ishtiaq Ahmad IA

Publication Date: 2018

Variant appearance in text: rs118204077

PubMed Link: 29420653

Variant Present in the following documents:

• pone.0192446.s009.xlsx, sheet 2

View BVdb publication page

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Genetic variation in human drug-related genes.

Genome Medicine

Schärfe, Charlotta Pauline Irmgard CPI; Tremmel, Roman R; Schwab, Matthias M; Kohlbacher, Oliver O; Marks, Debora Susan DS

Publication Date: 2017-12-22

Variant appearance in text: rs118204077

PubMed Link: 29273096

Variant Present in the following documents:

• 13073_2017_502_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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Lipoprotein Lipase Deficiency in an Infant With Chylomicronemia, Hepatomegaly, and Lipemia Retinalis.

Global Pediatric Health

Vidanapathirana, Dinesha Maduri DM; Rodrigo, Thushara T; Waidyanatha, Samantha S; Jasinge, Eresha E; Hooper, Amanda J AJ; Burnett, John R JR

Publication Date: 2017

Variant appearance in text: LPL: Arg270Cys

PubMed Link: 28695157

Variant Present in the following documents:

• Main text
• 10.1177_2333794X17715839.pdf

View BVdb publication page

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Implementation of genomic medicine in Sri Lanka: Initial experience and challenges.

Applied & Translational Genomics

Sirisena, Nirmala D ND; Neththikumara, Nilaksha N; Wetthasinghe, Kalum K; Dissanayake, Vajira H W VH

Publication Date: 2016-06

Variant appearance in text: LPL: Arg270Cys

PubMed Link: 27354939

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: LPL: R270C

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: LPL: R270C

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 4

View BVdb publication page

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Mutations in LPL, APOC2, APOA5, GPIHBP1 and LMF1 in patients with severe hypertriglyceridaemia.

Journal Of Internal Medicine

Surendran, R P RP; Visser, M E ME; Heemelaar, S S; Wang, J J; Peter, J J; Defesche, J C JC; Kuivenhoven, J A JA; Hosseini, M M; Péterfy, M M; Kastelein, J J P JJ; Johansen, C T CT; Hegele, R A RA; Stroes, E S G ES; Dallinga-Thie, G M GM

Publication Date: 2012-08

Variant appearance in text: LPL: 808C>T; Arg270Cys; rs118204077

PubMed Link: 22239554

Variant Present in the following documents:

• Main text

View BVdb publication page

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