Publications:

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Workflow enabling deepscale immunopeptidome, proteome, ubiquitylome, phosphoproteome, and acetylome analyses of sample-limited tissues.

Nature Communications

Abelin, Jennifer G JG; Bergstrom, Erik J EJ; Rivera, Keith D KD; Taylor, Hannah B HB; Klaeger, Susan S; Xu, Charles C; Verzani, Eva K EK; Jackson White, C C; Woldemichael, Hilina B HB; Virshup, Maya M; Olive, Meagan E ME; Maynard, Myranda M; Vartany, Stephanie A SA; Allen, Joseph D JD; Phulphagar, Kshiti K; Harry Kane, M M; Rachimi, Suzanna S; Mani, D R DR; Gillette, Michael A MA; Satpathy, Shankha S; Clauser, Karl R KR; Udeshi, Namrata D ND; Carr, Steven A SA

Publication Date: 2023-04-03

Variant appearance in text: PRRC2A: V1774M

PubMed Link: 37012232

Variant Present in the following documents:

• 41467_2023_37547_MOESM12_ESM.xlsx, sheet 2
• 41467_2023_37547_MOESM12_ESM.xlsx, sheet 3

View BVdb publication page

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Immunogenomic analysis of human brain metastases reveals diverse immune landscapes across genetically distinct tumors.

Cell Reports. Medicine

Álvarez-Prado, Ángel F ÁF; Maas, Roeltje R RR; Soukup, Klara K; Klemm, Florian F; Kornete, Mara M; Krebs, Fanny S FS; Zoete, Vincent V; Berezowska, Sabina S; Brouland, Jean-Philippe JP; Hottinger, Andreas F AF; Daniel, Roy T RT; Hegi, Monika E ME; Joyce, Johanna A JA

Publication Date: 2023-01-17

Variant appearance in text: PRRC2A: V1774M

PubMed Link: 36652909

Variant Present in the following documents:

• mmc4.xlsx, sheet 6

View BVdb publication page

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A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Human Genome Variation

Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-09-08

Variant appearance in text: PRRC2A: V1774M

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM5_ESM.xlsx, sheet 2
• 41439_2022_208_MOESM3_ESM.xlsx, sheet 2

View BVdb publication page

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SMAP is a pipeline for sample matching in proteogenomics.

Nature Communications

Li, Ling L; Niu, Mingming M; Erickson, Alyssa A; Luo, Jie J; Rowbotham, Kincaid K; Guo, Kai K; Huang, He H; Li, Yuxin Y; Jiang, Yi Y; Hur, Junguk J; Liu, Chunyu C; Peng, Junmin J; Wang, Xusheng X

Publication Date: 2022-02-08

Variant appearance in text: PRRC2A: V1774M

PubMed Link: 35136070

Variant Present in the following documents:

• 41467_2022_28411_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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Prioritization of candidate genes for a South African family with Parkinson's disease using in-silico tools.

Plos One

Sebate, Boiketlo B; Cuttler, Katelyn K; Cloete, Ruben R; Britz, Marcell M; Christoffels, Alan A; Williams, Monique M; Carr, Jonathan J; Bardien, Soraya S

Publication Date: 2021

Variant appearance in text: PRRC2A: 5320G>A; V1774M; rs11538264

PubMed Link: 33770142

Variant Present in the following documents:

• pone.0249324.s003.xlsx, sheet 1

View BVdb publication page

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Identification of 12 novel loci that confer susceptibility to early-onset dyslipidemia.

International Journal Of Molecular Medicine

Yamada, Yoshiji Y; Kato, Kimihiko K; Oguri, Mitsutoshi M; Horibe, Hideki H; Fujimaki, Tetsuo T; Yasukochi, Yoshiki Y; Takeuchi, Ichiro I; Sakuma, Jun J

Publication Date: 2019-01

Variant appearance in text: PRRC2A: V1774M; rs11538264

PubMed Link: 30365130

Variant Present in the following documents:

• Main text

View BVdb publication page

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Single nucleotide polymorphisms within HLA region are associated with disease relapse for patients with unrelated cord blood transplantation.

Peerj

Chen, Ding-Ping DP; Chang, Su-Wei SW; Jaing, Tang-Her TH; Wang, Wei-Ting WT; Hus, Fang-Ping FP; Tseng, Ching-Ping CP

Publication Date: 2018

Variant appearance in text: rs11538264

PubMed Link: 30083439

Variant Present in the following documents:

• Main text
• peerj-06-5228.pdf

View BVdb publication page

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Identification of eight genetic variants as novel determinants of dyslipidemia in Japanese by exome-wide association studies.

Oncotarget

Yamada, Yoshiji Y; Sakuma, Jun J; Takeuchi, Ichiro I; Yasukochi, Yoshiki Y; Kato, Kimihiko K; Oguri, Mitsutoshi M; Fujimaki, Tetsuo T; Horibe, Hideki H; Muramatsu, Masaaki M; Sawabe, Motoji M; Fujiwara, Yoshinori Y; Taniguchi, Yu Y; Obuchi, Shuichi S; Kawai, Hisashi H; Shinkai, Shoji S; Mori, Seijiro S; Arai, Tomio T; Tanaka, Masashi M

Publication Date: 2017-06-13

Variant appearance in text: PRRC2A: V1774M; rs11538264

PubMed Link: 28473662

Variant Present in the following documents:

• Main text
• oncotarget-08-38950.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: rs11538264

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: PRRC2A: V1774M

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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Whole-genome sequencing of the world's oldest people.

Plos One

Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK

Publication Date: 2014

Variant appearance in text: PRRC2A: V1774M; rs11538264

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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BAT2 and BAT3 polymorphisms as novel genetic risk factors for rejection after HLA-related SCT.

Bone Marrow Transplantation

Piras, Ignazio Stefano IS; Angius, Andrea A; Andreani, Marco M; Testi, Manuela M; Lucarelli, Guido G; Floris, Matteo M; Marktel, Sarah S; Ciceri, Fabio F; La Nasa, Giorgio G; Fleischhauer, Katharina K; Roncarolo, Maria Grazia MG; Bulfone, Alessandro A; Gregori, Silvia S; Bacchetta, Rosa R

Publication Date: 2014-11

Variant appearance in text: BAT2: VAL1774MET; rs11538264

PubMed Link: 25111513

Variant Present in the following documents:

• Main text
• emss-59083.pdf

View BVdb publication page

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Host genetics and immune control of HIV-1 infection: fine mapping for the extended human MHC region in an African cohort.

Genes And Immunity

Prentice, H A HA; Pajewski, N M NM; He, D D; Zhang, K K; Brown, E E EE; Kilembe, W W; Allen, S S; Hunter, E E; Kaslow, R A RA; Tang, J J

Publication Date: 2014

Variant appearance in text: BAT2: V1774M; rs11538264

PubMed Link: 24784026

Variant Present in the following documents:

• NIHMS580846-supplement-1.xlsx, sheet 3
• NIHMS580846-supplement-1.xlsx, sheet 2

View BVdb publication page

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Gene variants associated with ischemic stroke: the cardiovascular health study.

Stroke

Luke, May M MM; O'Meara, Ellen S ES; Rowland, Charles M CM; Shiffman, Dov D; Bare, Lance A LA; Arellano, Andre R AR; Longstreth, W T WT; Lumley, Thomas T; Rice, Kenneth K; Tracy, Russell P RP; Devlin, James J JJ; Psaty, Bruce M BM

Publication Date: 2009-02

Variant appearance in text: rs11538264

PubMed Link: 19023099

Variant Present in the following documents:

• Main text

View BVdb publication page

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Association of gene variants with incident myocardial infarction in the Cardiovascular Health Study.

Arteriosclerosis, Thrombosis, And Vascular Biology

Shiffman, Dov D; O'Meara, Ellen S ES; Bare, Lance A LA; Rowland, Charles M CM; Louie, Judy Z JZ; Arellano, Andre R AR; Lumley, Thomas T; Rice, Kenneth K; Iakoubova, Olga O; Luke, May M MM; Young, Bradford A BA; Malloy, Mary J MJ; Kane, John P JP; Ellis, Stephen G SG; Tracy, Russell P RP; Devlin, James J JJ; Psaty, Bruce M BM

Publication Date: 2008-01

Variant appearance in text: rs11538264

PubMed Link: 17975119

Variant Present in the following documents:

• Main text

View BVdb publication page

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