Publications:

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GBA1 in Parkinson's disease: variant detection and pathogenicity scoring matters.

Bmc Genomics

Gabbert, Carolin C; Schaake, Susen S; Lüth, Theresa T; Much, Christoph C; Klein, Christine C; Aasly, Jan O JO; Farrer, Matthew J MJ; Trinh, Joanne J

Publication Date: 2023-06-13

Variant appearance in text: GBA1: D482N

PubMed Link: 37312046

Variant Present in the following documents:

• 12864_2023_9417_MOESM1_ESM.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: GBA: 1444G>A; Asp482Asn

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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Genetic variants in African-American and Hispanic patients with breast cancer.

Oncology Letters

Dutta, Pranabananda P; Keung, Man Y MY; Wu, Yanyuan Y; Vadgama, Jaydutt V JV

Publication Date: 2023-02

Variant appearance in text: GBA: 1444G>A; D482N

PubMed Link: 36644153

Variant Present in the following documents:

• Supplementary_Data5.xlsx, sheet 1

View BVdb publication page

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Identification of KRAS G12V associated clonal neoantigens and immune microenvironment in long-term survival of pancreatic adenocarcinoma.

Cancer Immunology, Immunotherapy : Cii

Wang, Chao C; Shi, Min M; Zhang, Lei L; Ji, Jun J; Xie, Ruyan R; Wu, Chao C; Guo, Xianchao X; Yang, Ying Y; Zhou, Wei W; Peng, Chenhong C; Zhang, Henghui H; Yuan, Fei F; Zhang, Jun J

Publication Date: 2021-07-13

Variant appearance in text: GBA: 1444G>A; D482N

PubMed Link: 34255132

Variant Present in the following documents:

• 262_2021_3012_MOESM1_ESM.xlsx, sheet 2

View BVdb publication page

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Identification of KRAS G12V associated clonal neoantigens and immune microenvironment in long-term survival of pancreatic adenocarcinoma.

Cancer Immunology, Immunotherapy : Cii

Wang, Chao C; Shi, Min M; Zhang, Lei L; Ji, Jun J; Xie, Ruyan R; Wu, Chao C; Guo, Xianchao X; Yang, Ying Y; Zhou, Wei W; Peng, Chenhong C; Zhang, Henghui H; Yuan, Fei F; Zhang, Jun J

Publication Date: 2022-02

Variant appearance in text: GBA: 1444G>A; D482N

PubMed Link: 34255132

Variant Present in the following documents:

• 262_2021_3012_MOESM1_ESM.xlsx, sheet 2

View BVdb publication page

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Occurrence of Amyotrophic Lateral Sclerosis in Type 1 Gaucher Disease.

Neurology. Genetics

Oliveira, Lais M LM; Rastin, Tara T; Nimmo, Graeme A M GAM; Ross, Jay P JP; Dion, Patrick A PA; Zhang, Ming M; Nevay, Dayna-Lynn DL; Arkadir, David D; Gotkine, Marc M; Barnett, Carolina C; Shoesmith, Christen L CL; Zimran, Ari A; Rogaeva, Ekaterina A EA; Zinman, Lorne L; Rouleau, Guy A GA; Gan-Or, Ziv Z; Amato, Dominick D; Kalia, Lorraine V LV

Publication Date: 2021-08

Variant appearance in text: rs75671029

PubMed Link: 34017912

Variant Present in the following documents:

• NG2021016975.pdf

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: GBA: D482N

PubMed Link: 32958805

Variant Present in the following documents:

• 41598_2020_72404_MOESM2_ESM.xlsx, sheet 3

View BVdb publication page

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Cancer neoantigen prioritization through sensitive and reliable proteogenomics analysis.

Nature Communications

Wen, Bo B; Li, Kai K; Zhang, Yun Y; Zhang, Bing B

Publication Date: 2020-04-09

Variant appearance in text: GBA: D482N

PubMed Link: 32273506

Variant Present in the following documents:

• 41467_2020_15456_MOESM6_ESM.xlsx, sheet 1

View BVdb publication page

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Identification of targeted therapy options for gastric adenocarcinoma by comprehensive analysis of genomic data.

Gastric Cancer : Official Journal Of The International Gastric Cancer Association And The Japanese Gastric Cancer Association

Hescheler, Daniel A DA; Plum, Patrick S PS; Zander, Thomas T; Quaas, Alexander A; Korenkov, Michael M; Gassa, Asmae A; Michel, Maximilian M; Bruns, Christiane J CJ; Alakus, Hakan H

Publication Date: 2020-07

Variant appearance in text: GBA: D482N

PubMed Link: 32107691

Variant Present in the following documents:

• 10120_2020_1045_MOESM1_ESM.xlsx, sheet 2

View BVdb publication page

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Self-report data as a tool for subtype identification in genetically-defined Parkinson's Disease.

Scientific Reports

Winslow, Ashley R AR; Hyde, Craig L CL; Wilk, Jemma B JB; Eriksson, Nicholas N; Cannon, Paul P; Miller, Melissa R MR; Hirst, Warren D WD

Publication Date: 2018-08-28

Variant appearance in text: rs75671029

PubMed Link: 30154511

Variant Present in the following documents:

• Main text
• 41598_2018_Article_30843.pdf

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: rs75671029

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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Proteogenomics connects somatic mutations to signalling in breast cancer.

Nature

Mertins, Philipp P; Mani, D R DR; Ruggles, Kelly V KV; Gillette, Michael A MA; Clauser, Karl R KR; Wang, Pei P; Wang, Xianlong X; Qiao, Jana W JW; Cao, Song S; Petralia, Francesca F; Kawaler, Emily E; Mundt, Filip F; Krug, Karsten K; Tu, Zhidong Z; Lei, Jonathan T JT; Gatza, Michael L ML; Wilkerson, Matthew M; Perou, Charles M CM; Yellapantula, Venkata V; Huang, Kuan-lin KL; Lin, Chenwei C; McLellan, Michael D MD; Yan, Ping P; Davies, Sherri R SR; Townsend, R Reid RR; Skates, Steven J SJ; Wang, Jing J; Zhang, Bing B; Kinsinger, Christopher R CR; Mesri, Mehdi M; Rodriguez, Henry H; Ding, Li L; Paulovich, Amanda G AG; Fenyö, David D; Ellis, Matthew J MJ; Carr, Steven A SA; ,

Publication Date: 2016-06-02

Variant appearance in text: GBA: D482N; rs75671029

PubMed Link: 27251275

Variant Present in the following documents:

• NIHMS778057-supplement-supp_table5.xlsx, sheet 2

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: rs75671029

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: GBA: D482N

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 5

View BVdb publication page

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Glucocerebrosidase mutations in primary parkinsonism.

Parkinsonism & Related Disorders

Asselta, Rosanna R; Rimoldi, Valeria V; Siri, Chiara C; Cilia, Roberto R; Guella, Ilaria I; Tesei, Silvana S; Soldà, Giulia G; Pezzoli, Gianni G; Duga, Stefano S; Goldwurm, Stefano S

Publication Date: 2014-11

Variant appearance in text: GBA: 1444G>A; rs75671029

PubMed Link: 25249066

Variant Present in the following documents:

• Main text

View BVdb publication page

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In silico identification of genetic variants in glucocerebrosidase (GBA) gene involved in Gaucher's disease using multiple software tools.

Frontiers In Genetics

Manickam, Madhumathi M; Ravanan, Palaniyandi P; Singh, Pratibha P; Talwar, Priti P

Publication Date: 2014

Variant appearance in text: rs75671029

PubMed Link: 24904648

Variant Present in the following documents:

• Main text
• fgene-05-00148.pdf

View BVdb publication page

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Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease.

Brain : A Journal Of Neurology

Neumann, Juliane J; Bras, Jose J; Deas, Emma E; O'Sullivan, Sean S SS; Parkkinen, Laura L; Lachmann, Robin H RH; Li, Abi A; Holton, Janice J; Guerreiro, Rita R; Paudel, Reema R; Segarane, Badmavady B; Singleton, Andrew A; Lees, Andrew A; Hardy, John J; Houlden, Henry H; Revesz, Tamas T; Wood, Nicholas W NW

Publication Date: 2009-07

Variant appearance in text: GBA: 1444G>A; Asp482Asn

PubMed Link: 19286695

Variant Present in the following documents:

• Main text

View BVdb publication page

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