Publications:

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Genetic and molecular architecture of familial hypercholesterolemia.

Journal Of Internal Medicine

Abifadel, Marianne M; Boileau, Catherine C

Publication Date: 2022-10-04

Variant appearance in text: APOE: Arg269Gly

PubMed Link: 36196022

Variant Present in the following documents:

• Main text
• JOIM-293-144.pdf

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Genetics, Functions, and Clinical Impact of Presenilin-1 (PSEN1) Gene.

International Journal Of Molecular Sciences

Bagaria, Jaya J; Bagyinszky, Eva E; An, Seong Soo A SSA

Publication Date: 2022-09-19

Variant appearance in text: APOE: Arg269Gly

PubMed Link: 36142879

Variant Present in the following documents:

• Main text
• ijms-23-10970.pdf

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Genetics of Alzheimer's disease: an East Asian perspective.

Journal Of Human Genetics

Miyashita, Akinori A; Kikuchi, Masataka M; Hara, Norikazu N; Ikeuchi, Takeshi T

Publication Date: 2022-06-01

Variant appearance in text: APOE: Arg269Gly; rs267606661

PubMed Link: 35641666

Variant Present in the following documents:

• Main text
• 10038_2022_Article_1050.pdf

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APOE Molecular Spectrum in a French Cohort with Primary Dyslipidemia.

International Journal Of Molecular Sciences

Abou Khalil, Yara Y; Marmontel, Oriane O; Ferrières, Jean J; Paillard, François F; Yelnik, Cécile C; Carreau, Valérie V; Charrière, Sybil S; Bruckert, Eric E; Gallo, Antonio A; Giral, Philippe P; Philippi, Anne A; Bluteau, Olivier O; Boileau, Catherine C; Abifadel, Marianne M; Di-Filippo, Mathilde M; Carrié, Alain A; Rabès, Jean-Pierre JP; Varret, Mathilde M

Publication Date: 2022-05-21

Variant appearance in text: APOE: 805C>G; Arg269Gly; rs267606661

PubMed Link: 35628605

Variant Present in the following documents:

• Main text
• ijms-23-05792.pdf

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Whole-exome sequencing reveals damaging gene variants associated with hypoalphalipoproteinemia.

Journal Of Lipid Research

Dong, Weilai W; Wong, Karen H Y KHY; Liu, Youbin Y; Levy-Sakin, Michal M; Hung, Wei-Chien WC; Li, Mo M; Li, Boyang B; Jin, Sheng Chih SC; Choi, Jungmin J; Lopez-Giraldez, Francesc F; Vaka, Dedeepya D; Poon, Annie A; Chu, Catherine C; Lao, Richard R; Balamir, Melek M; Movsesyan, Irina I; Malloy, Mary J MJ; Zhao, Hongyu H; Kwok, Pui-Yan PY; Kane, John P JP; Lifton, Richard P RP; Pullinger, Clive R CR

Publication Date: 2022-06

Variant appearance in text: APOE: Arg269Gly; rs267606661

PubMed Link: 35460704

Variant Present in the following documents:

• mmc1.pdf

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Mutation analysis of disease causing genes in patients with early onset or familial forms of Alzheimer's disease and frontotemporal dementia.

Bmc Genomics

Pagnon de la Vega, María M; Näslund, Carl C; Brundin, RoseMarie R; Lannfelt, Lars L; Löwenmark, Malin M; Kilander, Lena L; Ingelsson, Martin M; Giedraitis, Vilmantas V

Publication Date: 2022-02-04

Variant appearance in text: APOE: R269G; rs267606661

PubMed Link: 35120450

Variant Present in the following documents:

• Main text
• 12864_2022_Article_8343.pdf

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Mutation analysis of disease causing genes in patients with early onset or familial forms of Alzheimer's disease and frontotemporal dementia.

Bmc Genomics

Pagnon de la Vega, María M; Näslund, Carl C; Brundin, RoseMarie R; Lannfelt, Lars L; Löwenmark, Malin M; Kilander, Lena L; Ingelsson, Martin M; Giedraitis, Vilmantas V

Publication Date: 2022-02-04

Variant appearance in text: APOE: R269G; rs267606661

PubMed Link: 35120450

Variant Present in the following documents:

• Main text
• 12864_2022_Article_8343.pdf

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Research Criteria for the Behavioral Variant of Alzheimer Disease: A Systematic Review and Meta-analysis.

Jama Neurology

Ossenkoppele, Rik R; Singleton, Ellen H EH; Groot, Colin C; Dijkstra, Anke A AA; Eikelboom, Willem S WS; Seeley, William W WW; Miller, Bruce B; Laforce, Robert Jr RJ; Scheltens, Philip P; Papma, Janne M JM; Rabinovici, Gil D GD; Pijnenburg, Yolande A L YAL

Publication Date: 2022-01-01

Variant appearance in text: APOE: R269G

PubMed Link: 34870696

Variant Present in the following documents:

• Main text
• jamaneurol-e214417-s001.pdf

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The role of genetics in neurodegenerative dementia: a large cohort study in South China.

Npj Genomic Medicine

Jiao, Bin B; Liu, Hui H; Guo, Lina L; Xiao, Xuewen X; Liao, Xinxin X; Zhou, Yafang Y; Weng, Ling L; Zhou, Lu L; Wang, Xin X; Jiang, Yaling Y; Yang, Qijie Q; Zhu, Yuan Y; Zhou, Lin L; Zhang, Weiwei W; Wang, Junling J; Yan, Xinxiang X; Li, Jinchen J; Tang, Beisha B; Shen, Lu L

Publication Date: 2021-08-13

Variant appearance in text: APOE: R269G

PubMed Link: 34389718

Variant Present in the following documents:

• Main text
• 41525_2021_Article_235.pdf

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APOE and dementia - resequencing and genotyping in 105,597 individuals.

Alzheimer'S & Dementia : The Journal Of The Alzheimer'S Association

Rasmussen, Katrine L KL; Tybjaerg-Hansen, Anne A; Nordestgaard, Børge G BG; Frikke-Schmidt, Ruth R

Publication Date: 2020-12

Variant appearance in text: APOE: 805C>G; Arg269Gly; rs267606661

PubMed Link: 32808727

Variant Present in the following documents:

• Main text
• ALZ-16-1624.pdf

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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: APOE: 805C>G; R269G

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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In silico prediction of blood cholesterol levels from genotype data.

Plos One

Reggiani, Francesco F; Carraro, Marco M; Belligoli, Anna A; Sanna, Marta M; Dal Prà, Chiara C; Favaretto, Francesca F; Ferrari, Carlo C; Vettor, Roberto R; Tosatto, Silvio C E SCE

Publication Date: 2020

Variant appearance in text: APOE: Arg269Gly

PubMed Link: 32040480

Variant Present in the following documents:

• pone.0227191.s001.xlsx, sheet 1

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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

Publication Date: 2019-02-07

Variant appearance in text: APOE: R269G

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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Global genetic diversity of human apolipoproteins and effects on cardiovascular disease risk.

Journal Of Lipid Research

Zhou, Yitian Y; Mägi, Reedik R; Milani, Lili L; Lauschke, Volker M VM

Publication Date: 2018-10

Variant appearance in text: rs267606661

PubMed Link: 30076208

Variant Present in the following documents:

• 10.1194_P086710_jlr.P086710-4.xlsx, sheet 3

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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: APOE: R269G

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 1

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Description of a large family with autosomal dominant hypercholesterolemia associated with the APOE p.Leu167del mutation.

Human Mutation

Marduel, Marie M; Ouguerram, Khadija K; Serre, Valérie V; Bonnefont-Rousselot, Dominique D; Marques-Pinheiro, Alice A; Erik Berge, Knut K; Devillers, Martine M; Luc, Gérald G; Lecerf, Jean-Michel JM; Tosolini, Laurent L; Erlich, Danièle D; Peloso, Gina M GM; Stitziel, Nathan N; Nitchké, Patrick P; Jaïs, Jean-Philippe JP; , ; Abifadel, Marianne M; Kathiresan, Sekar S; Leren, Trond Paul TP; Rabès, Jean-Pierre JP; Boileau, Catherine C; Varret, Mathilde M

Publication Date: 2013-01

Variant appearance in text: APOE: 805C>G; Arg269Gly

PubMed Link: 22949395

Variant Present in the following documents:

• Main text

View BVdb publication page

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