Publications:

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Apolipoprotein E (APOE) Haplotypes in Healthy Subjects from Worldwide Macroareas: A Population Genetics Perspective for Cardiovascular Disease, Neurodegeneration, and Dementia.

Current Issues In Molecular Biology

Abondio, Paolo P; Bruno, Francesco F; Luiselli, Donata D

Publication Date: 2023-03-31

Variant appearance in text: rs121918393

PubMed Link: 37185708

Variant Present in the following documents:

• Main text
• cimb-45-00184.pdf

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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: APOE: 460C>A; Arg154Ser

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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Rare variants and HLA haplotypes associated in patients with neuromyelitis optica spectrum disorders.

Frontiers In Immunology

Tabansky, Inna I; Tanaka, Akemi J AJ; Wang, Jiayao J; Zhang, Guanglan G; Dujmovic, Irena I; Mader, Simone S; Jeganathan, Venkatesh V; DeAngelis, Tracey T; Funaro, Michael M; Harel, Asaff A; Messina, Mark M; Shabbir, Maya M; Nursey, Vishaan V; DeGouvia, William W; Laurent, Micheline M; Blitz, Karen K; Jindra, Peter P; Gudesblatt, Mark M; , ; King, Alejandra A; Drulovic, Jelena J; Yunis, Edmond E; Brusic, Vladimir V; Shen, Yufeng Y; Keskin, Derin B DB; Najjar, Souhel S; Stern, Joel N H JNH

Publication Date: 2022

Variant appearance in text: APOE: R154S

PubMed Link: 36268024

Variant Present in the following documents:

• Table_1.xlsx, sheet 3

View BVdb publication page

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Brain Radiotoxicity-Related 15CAcBRT Gene Expression Signature Predicts Survival Prognosis of Glioblastoma Patients.

Neuro-Oncology

Reyes-González, Jesús J; Barajas-Olmos, Francisco F; García-Ortiz, Humberto H; Magraner-Pardo, Lorena L; Pons, Tirso T; Moreno, Sergio S; Aguirre-Cruz, Lucinda L; Reyes-Abrahantes, Andy A; Martínez-Hernández, Angélica A; Contreras-Cubas, Cecilia C; Barrios-Payan, Jorge J; Ruiz-Garcia, Henry J HJ; Hernandez-Pando, Rogelio R; Quiñones-Hinojosa, Alfredo A; Orozco, Lorena L; Abrahantes-Pérez, María Del Carmen MDC

Publication Date: 2022-07-08

Variant appearance in text: APOE: R154S

PubMed Link: 35802478

Variant Present in the following documents:

• Main text
• noac171_suppl_suplementary_table_s1.xlsx, sheet 1
• noac171_suppl_suplementary_table_s7.xlsx, sheet 1
• noac171.pdf
• noac171_suppl_suplementary_table_ss9.xls, sheet 1

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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: 460C>A; Arg154Ser; rs121918393

PubMed Link: 35641666

Variant Present in the following documents:

• Main text
• 10038_2022_Article_1050.pdf

View BVdb publication page

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Protective genes and pathways in Alzheimer's disease: moving towards precision interventions.

Molecular Neurodegeneration

Seto, Mabel M; Weiner, Rebecca L RL; Dumitrescu, Logan L; Hohman, Timothy J TJ

Publication Date: 2021-04-29

Variant appearance in text: rs121918393

PubMed Link: 33926499

Variant Present in the following documents:

• Main text

View BVdb publication page

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Identification of pathogenic missense mutations using protein stability predictors.

Scientific Reports

Gerasimavicius, Lukas L; Liu, Xin X; Marsh, Joseph A JA

Publication Date: 2020-09-21

Variant appearance in text: APOE: R154S

PubMed Link: 32958805

Variant Present in the following documents:

• 41598_2020_72404_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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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: Arg154Ser; rs121918393

PubMed Link: 32808727

Variant Present in the following documents:

• Main text
• ALZ-16-1624.pdf

View BVdb publication page

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APOE-amyloid interaction: Therapeutic targets.

Neurobiology Of Disease

Wisniewski, Thomas T; Drummond, Eleanor E

Publication Date: 2020-05

Variant appearance in text: APOE: R154S

PubMed Link: 32027932

Variant Present in the following documents:

• Main text
• nihms-1562308.pdf

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: rs121918393

PubMed Link: 31589614

Variant Present in the following documents:

• pgen.1008409.s001.xlsx, sheet 1

View BVdb publication page

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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: R154S; rs121918393

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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Psychological and behavioural impact of returning personal results from whole-genome sequencing: the HealthSeq project.

European Journal Of Human Genetics : Ejhg

Sanderson, Saskia C SC; Linderman, Michael D MD; Suckiel, Sabrina A SA; Zinberg, Randi R; Wasserstein, Melissa M; Kasarskis, Andrew A; Diaz, George A GA; Schadt, Eric E EE

Publication Date: 2017-02

Variant appearance in text: APOE: R154S

PubMed Link: 28051073

Variant Present in the following documents:

• ejhg2016178a.pdf

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Variable phenotypic expression of nonsense mutation p.Thr5* in the APOE gene.

Molecular Genetics And Metabolism Reports

Leren, Trond P TP; Strøm, Thea Bismo TB; Berge, Knut Erik KE

Publication Date: 2016-12

Variant appearance in text: APOE: Arg154Ser

PubMed Link: 27830118

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Frequency of rare mutations and common genetic variations in severe hypertriglyceridemia in the general population of Spain.

Lipids In Health And Disease

Lamiquiz-Moneo, Itziar I; Blanco-Torrecilla, Cristian C; Bea, Ana M AM; Mateo-Gallego, Rocío R; Pérez-Calahorra, Sofía S; Baila-Rueda, Lucía L; Cenarro, Ana A; Civeira, Fernando F; de Castro-Orós, Isabel I

Publication Date: 2016-04-23

Variant appearance in text: APOE: Arg154Ser

PubMed Link: 27108409

Variant Present in the following documents:

• Main text
• 12944_2016_Article_251.pdf

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: APOE: R154S

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 1

View BVdb publication page

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Screening and Evaluation of Deleterious SNPs in APOE Gene of Alzheimer's Disease.

Neurology Research International

Masoodi, Tariq Ahmad TA; Al Shammari, Sulaiman A SA; Al-Muammar, May N MN; Alhamdan, Adel A AA

Publication Date: 2012

Variant appearance in text: APOE: R154S; rs121918393

PubMed Link: 22530123

Variant Present in the following documents:

• Main text
• NRI2012-480609.pdf

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Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Nucleic Acids Research

Ryu, Gil-Mi GM; Song, Pamela P; Kim, Kyu-Won KW; Oh, Kyung-Soo KS; Park, Keun-Joon KJ; Kim, Jong Hun JH

Publication Date: 2009-03

Variant appearance in text: APOE: R154S

PubMed Link: 19139070

Variant Present in the following documents:

• gkn1008_nar-01723-s-2008-File009.xls, sheet 5
• gkn1008_nar-01723-s-2008-File011.xls, sheet 2
• gkn1008_nar-01723-s-2008-File009.xls, sheet 2

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