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: rs201672011

PubMed Link: 37185708

Variant Present in the following documents:

• Main text
• cimb-45-00184.pdf

View BVdb publication page

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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: 91G>A; Glu31Lys

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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Whole-exome sequencing identifies novel protein-altering variants associated with serum apolipoprotein and lipid concentrations.

Genome Medicine

Sandholm, Niina N; Hotakainen, Ronja R; Haukka, Jani K JK; Jansson Sigfrids, Fanny F; Dahlström, Emma H EH; Antikainen, Anni A AA; Valo, Erkka E; Syreeni, Anna A; Kilpeläinen, Elina E; Kytölä, Anastasia A; Palotie, Aarno A; Harjutsalo, Valma V; Forsblom, Carol C; Groop, Per-Henrik PH; ,

Publication Date: 2022-11-23

Variant appearance in text: rs201672011

PubMed Link: 36419110

Variant Present in the following documents:

• Main text
• 13073_2022_Article_1135.pdf

View BVdb publication page

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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: 91G>A; Glu31Lys; rs201672011

PubMed Link: 35641666

Variant Present in the following documents:

• Main text
• 10038_2022_Article_1050.pdf

View BVdb publication page

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Shortcomings on genetic testing of Familial hypercholesterolemia (FH) in India: Can we collaborate to establish Indian FH registry?

Indian Heart Journal

Reddy, Lakshmi Lavanya LL; Shah, Swarup A V SAV; Ashavaid, Tester F TF

Publication Date: 2022

Variant appearance in text: APOE: 91G>A

PubMed Link: 34875256

Variant Present in the following documents:

• main.pdf

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: 91G>A; Glu31Lys; rs201672011

PubMed Link: 32808727

Variant Present in the following documents:

• Main text
• ALZ-16-1624.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: rs201672011

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: E31K; rs201672011

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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Detecting protein variants by mass spectrometry: a comprehensive study in cancer cell-lines.

Genome Medicine

Alfaro, Javier A JA; Ignatchenko, Alexandr A; Ignatchenko, Vladimir V; Sinha, Ankit A; Boutros, Paul C PC; Kislinger, Thomas T

Publication Date: 2017-07-18

Variant appearance in text: APOE: E31K; rs201672011

PubMed Link: 28716134

Variant Present in the following documents:

• 13073_2017_454_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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Pharmacogenetics and Pharmacotherapy of Military Personnel Suffering from Post-traumatic Stress Disorder.

Current Neuropharmacology

Naß, Janine J; Efferth, Thomas T

Publication Date: 2017

Variant appearance in text: rs201672011

PubMed Link: 27834145

Variant Present in the following documents:

• Main text
• CN-15-831.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: rs201672011

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: APOE: E31K

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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