Publications:

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Investigating APOE, APP-Aβ metabolism genes and Alzheimer's disease GWAS hits in brain small vessel ischemic disease.

Scientific Reports

Blumenau, Sonja S; Foddis, Marco M; Müller, Susanne S; Holtgrewe, Manuel M; Bentele, Kajetan K; Berchtold, Daniel D; Beule, Dieter D; Dirnagl, Ulrich U; Sassi, Celeste C

Publication Date: 2020-04-28

Variant appearance in text: EPHA1: 1475G>A; R492Q; rs11768549

PubMed Link: 32345996

Variant Present in the following documents:

• 41598_2020_63183_MOESM5_ESM.xlsx, sheet 2

View BVdb publication page

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TRPV4 and KRAS and FGFR1 gain-of-function mutations drive giant cell lesions of the jaw.

Nature Communications

Gomes, Carolina Cavalieri CC; Gayden, Tenzin T; Bajic, Andrea A; Harraz, Osama F OF; Pratt, Jonathan J; Nikbakht, Hamid H; Bareke, Eric E; Diniz, Marina Gonçalves MG; Castro, Wagner Henriques WH; St-Onge, Pascal P; Sinnett, Daniel D; Han, HyeRim H; Rivera, Barbara B; Mikael, Leonie G LG; De Jay, Nicolas N; Kleinman, Claudia L CL; Valera, Elvis Terci ET; Bassenden, Angelia V AV; Berghuis, Albert M AM; Majewski, Jacek J; Nelson, Mark T MT; Gomez, Ricardo Santiago RS; Jabado, Nada N

Publication Date: 2018-11-01

Variant appearance in text: EPHA1: R492Q; rs11768549

PubMed Link: 30385747

Variant Present in the following documents:

• 41467_2018_6690_MOESM8_ESM.xlsx, sheet 1

View BVdb publication page

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Whole-Exome Sequencing Study of Extreme Phenotypes of NAFLD.

Hepatology Communications

Kleinstein, Sarah E SE; Rein, Matthew M; Abdelmalek, Manal F MF; Guy, Cynthia D CD; Goldstein, David B DB; Mae Diehl, Anna A; Moylan, Cynthia A CA

Publication Date: 2018-09

Variant appearance in text: EPHA1: R492Q; rs11768549

PubMed Link: 30202817

Variant Present in the following documents:

• HEP4-2-1021-s001.xlsx, sheet 5

View BVdb publication page

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Exome Sequencing of Extended Families with Alzheimer's Disease Identifies Novel Genes Implicated in Cell Immunity and Neuronal Function.

Journal Of Alzheimer'S Disease & Parkinsonism

Cukier, H N HN; Kunkle, B K BK; Hamilton, K L KL; Rolati, S S; Kohli, M A MA; Whitehead, P L PL; Jaworski, J J; Vance, J M JM; Cuccaro, M L ML; Carney, R M RM; Gilbert, J R JR; Farrer, L A LA; Martin, E R ER; Beecham, G W GW; Haines, J L JL; Pericak-Vance, M A MA

Publication Date: 2017-08

Variant appearance in text: EPHA1: Arg492Gln; rs11768549

PubMed Link: 29177109

Variant Present in the following documents:

• Main text
• nihms907692.pdf

View BVdb publication page

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ABCA7 p.G215S as potential protective factor for Alzheimer's disease.

Neurobiology Of Aging

Sassi, Celeste C; Nalls, Michael A MA; Ridge, Perry G PG; Gibbs, Jesse R JR; Ding, Jinhui J; Lupton, Michelle K MK; Troakes, Claire C; Lunnon, Katie K; Al-Sarraj, Safa S; Brown, Kristelle S KS; Medway, Christopher C; Clement, Naomi N; Lord, Jenny J; Turton, James J; Bras, Jose J; Almeida, Maria R MR; , ; Holstege, Henne H; Louwersheimer, Eva E; van der Flier, Wiesje M WM; Scheltens, Philip P; Van Swieten, John C JC; Santana, Isabel I; Oliveira, Catarina C; Morgan, Kevin K; Powell, John F JF; Kauwe, John S JS; Cruchaga, Carlos C; Goate, Alison M AM; Singleton, Andrew B AB; Guerreiro, Rita R; Hardy, John J

Publication Date: 2016-10

Variant appearance in text: rs11768549

PubMed Link: 27289440

Variant Present in the following documents:

• Main text

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: rs11768549

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: EPHA1: R492Q

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 2

View BVdb publication page

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Sporadic hemangioblastomas are characterized by cryptic VHL inactivation.

Acta Neuropathologica Communications

Shankar, Ganesh M GM; Taylor-Weiner, Amaro A; Lelic, Nina N; Jones, Robert T RT; Kim, James C JC; Francis, Joshua M JM; Abedalthagafi, Malak M; Borges, Lawrence F LF; Coumans, Jean-Valery JV; Curry, William T WT; Nahed, Brian V BV; Shin, John H JH; Paek, Sun Ha SH; Park, Sung-Hye SH; Stewart, Chip C; Lawrence, Michael S MS; Cibulskis, Kristian K; Thorner, Aaron R AR; Van Hummelen, Paul P; Stemmer-Rachamimov, Anat O AO; Batchelor, Tracy T TT; Carter, Scott L SL; Hoang, Mai P MP; Santagata, Sandro S; Louis, David N DN; Barker, Fred G FG; Meyerson, Matthew M; Getz, Gad G; Brastianos, Priscilla K PK; Cahill, Daniel P DP

Publication Date: 2014-12-24

Variant appearance in text: EPHA1: 1475G>A; R492Q; rs11768549

PubMed Link: 25589003

Variant Present in the following documents:

• 40478_2014_167_MOESM1_ESM.xlsx, sheet 6

View BVdb publication page

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The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.

Nucleic Acids Research

Tang, Xiaojia X; Baheti, Saurabh S; Shameer, Khader K; Thompson, Kevin J KJ; Wills, Quin Q; Niu, Nifang N; Holcomb, Ilona N IN; Boutet, Stephane C SC; Ramakrishnan, Ramesh R; Kachergus, Jennifer M JM; Kocher, Jean-Pierre A JP; Weinshilboum, Richard M RM; Wang, Liewei L; Thompson, E Aubrey EA; Kalari, Krishna R KR

Publication Date: 2014-12-16

Variant appearance in text: EPHA1: R492Q; rs11768549

PubMed Link: 25352556

Variant Present in the following documents:

• supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 12

View BVdb publication page

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Genetic determinants of disease progression in Alzheimer's disease.

Journal Of Alzheimer'S Disease : Jad

Wang, Xingbin X; Lopez, Oscar L OL; Sweet, Robert A RA; Becker, James T JT; DeKosky, Steven T ST; Barmada, Mahmud M MM; Demirci, F Yesim FY; Kamboh, M Ilyas MI

Publication Date: 2015

Variant appearance in text: rs11768549

PubMed Link: 25114068

Variant Present in the following documents:

• Main text

View BVdb publication page

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