Publications:

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Comprehensive proteogenomic characterization of early duodenal cancer reveals the carcinogenesis tracks of different subtypes.

Nature Communications

Li, Lingling L; Jiang, Dongxian D; Liu, Hui H; Guo, Chunmei C; Zhao, Rui R; Zhang, Qiao Q; Xu, Chen C; Qin, Zhaoyu Z; Feng, Jinwen J; Liu, Yang Y; Wang, Haixing H; Chen, Weijie W; Zhang, Xue X; Li, Bin B; Bai, Lin L; Tian, Sha S; Tan, Subei S; Yu, Zixiang Z; Chen, Lingli L; Huang, Jie J; Zhao, Jian-Yuan JY; Hou, Yingyong Y; Ding, Chen C

Publication Date: 2023-03-29

Variant appearance in text: LRRK2: L953L; rs7966550

PubMed Link: 36991000

Variant Present in the following documents:

• 41467_2023_37221_MOESM5_ESM.xlsx, sheet 3

View BVdb publication page

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Integrated gene analyses of de novo variants from 46,612 trios with autism and developmental disorders.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Wang, Tianyun T; Kim, Chang N CN; Bakken, Trygve E TE; Gillentine, Madelyn A MA; Henning, Barbara B; Mao, Yafei Y; Gilissen, Christian C; , ; Nowakowski, Tomasz J TJ; Eichler, Evan E EE

Publication Date: 2022-11-15

Variant appearance in text: LRRK2: 2857T>C; Leu953=

PubMed Link: 36350923

Variant Present in the following documents:

• pnas.2203491119.sd01.xlsx, sheet 1

View BVdb publication page

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Genomic, transcriptomic, and metabolomic profiles of hiPSC-derived dopamine neurons from clinically discordant brothers with identical PRKN deletions.

Npj Parkinson'S Disease

Cukier, Holly N HN; Kim, Hyunjin H; Griswold, Anthony J AJ; Codreanu, Simona G SG; Prince, Lisa M LM; Sherrod, Stacy D SD; McLean, John A JA; Dykxhoorn, Derek M DM; Ess, Kevin C KC; Hedera, Peter P; Bowman, Aaron B AB; Neely, M Diana MD

Publication Date: 2022-06-29

Variant appearance in text: LRRK2: L953L; rs7966550

PubMed Link: 35768426

Variant Present in the following documents:

• Main text
• 41531_2022_Article_346.pdf
• 41531_2022_346_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Deep resequencing identifies candidate functional genes in leprosy GWAS loci.

Plos Neglected Tropical Diseases

Fava, Vinicius M VM; Dallmann-Sauer, Monica M; Orlova, Marianna M; Correa-Macedo, Wilian W; Van Thuc, Nguyen N; Thai, Vu Hong VH; Alcaïs, Alexandre A; Abel, Laurent L; Cobat, Aurélie A; Schurr, Erwin E

Publication Date: 2021-12

Variant appearance in text: LRRK2: L953L; rs7966550

PubMed Link: 34879060

Variant Present in the following documents:

• pntd.0010029.s004.xlsx, sheet 1

View BVdb publication page

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Deep resequencing identifies candidate functional genes in leprosy GWAS loci.

Plos Neglected Tropical Diseases

Fava, Vinicius M VM; Dallmann-Sauer, Monica M; Orlova, Marianna M; Correa-Macedo, Wilian W; Van Thuc, Nguyen N; Thai, Vu Hong VH; Alcaïs, Alexandre A; Abel, Laurent L; Cobat, Aurélie A; Schurr, Erwin E

Publication Date: 2021-12-08

Variant appearance in text: LRRK2: L953L; rs7966550

PubMed Link: 34879060

Variant Present in the following documents:

• pntd.0010029.s004.xlsx, sheet 1

View BVdb publication page

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Identification of a nonsense mutation in TNNI3K associated with cardiac conduction disease.

Journal Of Clinical Laboratory Analysis

Liu, Jiang J; Liu, Da D; Li, Muzheng M; Wu, Keke K; Liu, Na N; Zhao, Chenyu C; Shi, Xiaoliu X; Liu, Qiming Q

Publication Date: 2020-09

Variant appearance in text: LRRK2: L953L; rs7966550

PubMed Link: 32529721

Variant Present in the following documents:

• JCLA-34-e23418-s003.xls, sheet 1

View BVdb publication page

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PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations.

Genome Biology

Zhang, Chao C; Gao, Yang Y; Ning, Zhilin Z; Lu, Yan Y; Zhang, Xiaoxi X; Liu, Jiaojiao J; Xie, Bo B; Xue, Zhe Z; Wang, Xiaoji X; Yuan, Kai K; Ge, Xueling X; Pan, Yuwen Y; Liu, Chang C; Tian, Lei L; Wang, Yuchen Y; Lu, Dongsheng D; Hoh, Boon-Peng BP; Xu, Shuhua S

Publication Date: 2019-10-22

Variant appearance in text: LRRK2: 2857T>C; Leu953=; rs7966550

PubMed Link: 31640808

Variant Present in the following documents:

• 13059_2019_1838_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Scientific Reports

Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA

Publication Date: 2019-10-09

Variant appearance in text: LRRK2: L953L; rs7966550

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM6_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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Genetic analysis of Mendelian mutations in a large UK population-based Parkinson's disease study.

Brain : A Journal Of Neurology

Tan, Manuela M X MMX; Malek, Naveed N; Lawton, Michael A MA; Hubbard, Leon L; Pittman, Alan M AM; Joseph, Theresita T; Hehir, Jason J; Swallow, Diane M A DMA; Grosset, Katherine A KA; Marrinan, Sarah L SL; Bajaj, Nin N; Barker, Roger A RA; Burn, David J DJ; Bresner, Catherine C; Foltynie, Thomas T; Hardy, John J; Wood, Nicholas N; Ben-Shlomo, Yoav Y; Grosset, Donald G DG; Williams, Nigel M NM; Morris, Huw R HR

Publication Date: 2019-09-01

Variant appearance in text: rs7966550

PubMed Link: 31324919

Variant Present in the following documents:

• awz191_supplementary_data.pdf

View BVdb publication page

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A pan-cancer analysis of synonymous mutations.

Nature Communications

Sharma, Yogita Y; Miladi, Milad M; Dukare, Sandeep S; Boulay, Karine K; Caudron-Herger, Maiwen M; Groß, Matthias M; Backofen, Rolf R; Diederichs, Sven S

Publication Date: 2019-06-12

Variant appearance in text: LRRK2: 2857T>C

PubMed Link: 31189880

Variant Present in the following documents:

• 41467_2019_10489_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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Mitochondrial Serine Protease HTRA2 p.G399S in a Female with Di George Syndrome and Parkinson's Disease.

Parkinson'S Disease

Gambardella, Stefano S; Ferese, Rosangela R; Scala, Simona S; Carboni, Stefania S; Biagioni, Francesca F; Giardina, Emiliano E; Zampatti, Stefania S; Modugno, Nicola N; Fabbiano, Francesco F; Fornai, Francesco F; Centonze, Diego D; Ruggieri, Stefano S

Publication Date: 2018

Variant appearance in text: LRRK2: 2857T>C; rs7966550

PubMed Link: 30034773

Variant Present in the following documents:

• Main text
• PD2018-5651435.pdf

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A likely pathogenic variant putatively affecting splicing of PIGA identified in a multiple congenital anomalies hypotonia-seizures syndrome 2 (MCAHS2) family pedigree via whole-exome sequencing.

Molecular Genetics & Genomic Medicine

Yang, Junli J; Wang, Qiong Q; Zhuo, Qingcui Q; Tian, Huiling H; Li, Wen W; Luo, Fang F; Zhang, Jinghui J; Bi, Dan D; Peng, Jing J; Zhou, Dong D; Xin, Huawei H

Publication Date: 2018-09

Variant appearance in text: LRRK2: 2857T>C; L953L; rs7966550

PubMed Link: 29974678

Variant Present in the following documents:

• MGG3-6-739-s002.xlsx, sheet 7
• MGG3-6-739-s002.xlsx, sheet 4
• MGG3-6-739-s002.xlsx, sheet 6

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Study of LRRK2 variation in tauopathy: Progressive supranuclear palsy and corticobasal degeneration.

Movement Disorders : Official Journal Of The Movement Disorder Society

Sanchez-Contreras, Monica M; Heckman, Michael G MG; Tacik, Pawel P; Diehl, Nancy N; Brown, Patricia H PH; Soto-Ortolaza, Alexandra I AI; Christopher, Elizabeth A EA; Walton, Ronald L RL; Ross, Owen A OA; Golbe, Lawrence I LI; Graff-Radford, Neill N; Wszolek, Zbigniew K ZK; Dickson, Dennis W DW; Rademakers, Rosa R

Publication Date: 2017-01

Variant appearance in text: LRRK2: L953L; rs7966550

PubMed Link: 27709685

Variant Present in the following documents:

• Main text

View BVdb publication page

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LRRK2 variation and dementia with Lewy bodies.

Parkinsonism & Related Disorders

Heckman, Michael G MG; Soto-Ortolaza, Alexandra I AI; Contreras, Monica Y Sanchez MYS; Murray, Melissa E ME; Pedraza, Otto O; Diehl, Nancy N NN; Walton, Ronald R; Labbé, Catherine C; Lorenzo-Betancor, Oswaldo O; Uitti, Ryan J RJ; van Gerpen, Jay J; Ertekin-Taner, Nilüfer N; Smith, Glenn E GE; Kantarci, Kejal K; Savica, Rodolfo R; Jones, David T DT; Graff-Radford, Jonathan J; Knopman, David S DS; Lowe, Val J VJ; Jack, Clifford R CR; Petersen, Ronald C RC; Parisi, Joseph E JE; Rademakers, Rosa R; Wszolek, Zbigniew K ZK; Graff-Radford, Neill R NR; Ferman, Tanis J TJ; Dickson, Dennis W DW; Boeve, Bradley F BF; Ross, Owen A OA

Publication Date: 2016-10

Variant appearance in text: LRRK2: L953L; rs7966550

PubMed Link: 27521182

Variant Present in the following documents:

• Main text

View BVdb publication page

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Proteogenomic analysis reveals exosomes are more oncogenic than ectosomes.

Oncotarget

Keerthikumar, Shivakumar S; Gangoda, Lahiru L; Liem, Michael M; Fonseka, Pamali P; Atukorala, Ishara I; Ozcitti, Cemil C; Mechler, Adam A; Adda, Christopher G CG; Ang, Ching-Seng CS; Mathivanan, Suresh S

Publication Date: 2015-06-20

Variant appearance in text: LRRK2: L953L; rs7966550

PubMed Link: 25944692

Variant Present in the following documents:

• oncotarget-06-15375-s005.xlsx, sheet 2

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: LRRK2: L953L; rs7966550

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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Genetic variants ofLRRK2 in Taiwanese Parkinson's disease.

Plos One

Wu, Yih-Ru YR; Chang, Kuo-Hsuan KH; Chang, Wen-Teng WT; Hsiao, Ya-Chin YC; Hsu, Hsuan-Chu HC; Jiang, Pei-Ru PR; Chen, Yi-Chun YC; Chao, Chih-Ying CY; Chang, Yi-Chung YC; Lee, Bo-Hsun BH; Hu, Fen-Ju FJ; Chen, Wan-Ling WL; Lee-Chen, Guey-Jen GJ; Chen, Chiung-Mei CM

Publication Date: 2013

Variant appearance in text: rs7966550

PubMed Link: 24339985

Variant Present in the following documents:

• Main text
• pone.0082001.pdf

View BVdb publication page

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Patient-control association study of the Leucine-Rich repeat kinase 2 (LRRK2) gene in South African Parkinson's disease patients.

Movement Disorders : Official Journal Of The Movement Disorder Society

Bardien, Soraya S; Blanckenberg, Janine J; van der Merwe, Lize L; Farrer, Matthew J MJ; Ross, Owen A OA

Publication Date: 2013-12

Variant appearance in text: rs7966550

PubMed Link: 24014121

Variant Present in the following documents:

• Main text

View BVdb publication page

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Deep sequencing of the LRRK2 gene in 14,002 individuals reveals evidence of purifying selection and independent origin of the p.Arg1628Pro mutation in Europe.

Human Mutation

Rubio, Justin P JP; Topp, Simon S; Warren, Liling L; St Jean, Pamela L PL; Wegmann, Daniel D; Kessner, Darren D; Novembre, John J; Shen, Judong J; Fraser, Dana D; Aponte, Jennifer J; Nangle, Keith K; Cardon, Lon R LR; Ehm, Margaret G MG; Chissoe, Stephanie L SL; Whittaker, John C JC; Nelson, Matthew R MR; Mooser, Vincent E VE

Publication Date: 2012-07

Variant appearance in text: LRRK2: 2857T>C; Leu953Leu

PubMed Link: 22415848

Variant Present in the following documents:

• Main text

View BVdb publication page

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Association of LRRK2 exonic variants with susceptibility to Parkinson's disease: a case-control study.

The Lancet. Neurology

Ross, Owen A OA; Soto-Ortolaza, Alexandra I AI; Heckman, Michael G MG; Aasly, Jan O JO; Abahuni, Nadine N; Annesi, Grazia G; Bacon, Justin A JA; Bardien, Soraya S; Bozi, Maria M; Brice, Alexis A; Brighina, Laura L; Van Broeckhoven, Christine C; Carr, Jonathan J; Chartier-Harlin, Marie-Christine MC; Dardiotis, Efthimios E; Dickson, Dennis W DW; Diehl, Nancy N NN; Elbaz, Alexis A; Ferrarese, Carlo C; Ferraris, Alessandro A; Fiske, Brian B; Gibson, J Mark JM; Gibson, Rachel R; Hadjigeorgiou, Georgios M GM; Hattori, Nobutaka N; Ioannidis, John P A JP; Jasinska-Myga, Barbara B; Jeon, Beom S BS; Kim, Yun Joong YJ; Klein, Christine C; Kruger, Rejko R; Kyratzi, Elli E; Lesage, Suzanne S; Lin, Chin-Hsien CH; Lynch, Timothy T; Maraganore, Demetrius M DM; Mellick, George D GD; Mutez, Eugénie E; Nilsson, Christer C; Opala, Grzegorz G; Park, Sung Sup SS; Puschmann, Andreas A; Quattrone, Aldo A; Sharma, Manu M; Silburn, Peter A PA; Sohn, Young Ho YH; Stefanis, Leonidas L; Tadic, Vera V; Theuns, Jessie J; Tomiyama, Hiroyuki H; Uitti, Ryan J RJ; Valente, Enza Maria EM; van de Loo, Simone S; Vassilatis, Demetrios K DK; Vilariño-Güell, Carles C; White, Linda R LR; Wirdefeldt, Karin K; Wszolek, Zbigniew K ZK; Wu, Ruey-Meei RM; Farrer, Matthew J MJ; ,

Publication Date: 2011-10

Variant appearance in text: LRRK2: L953L; rs7966550

PubMed Link: 21885347

Variant Present in the following documents:

• Main text

View BVdb publication page

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LRRK2 variation and Parkinson's disease in African Americans.

Movement Disorders : Official Journal Of The Movement Disorder Society

Ross, Owen A OA; Wilhoite, Greggory J GJ; Bacon, Justin A JA; Soto-Ortolaza, Alexandra A; Kachergus, Jennifer J; Cobb, Stephanie A SA; Puschmann, Andreas A; Vilariño-Güell, Carles C; Farrer, Matthew J MJ; Graff-Radford, Neill N; Meschia, James F JF; Wszolek, Zbigniew K ZK

Publication Date: 2010-09-15

Variant appearance in text: LRRK2: L953L; rs7966550

PubMed Link: 20669299

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic etiology of Parkinson disease associated with mutations in the SNCA, PARK2, PINK1, PARK7, and LRRK2 genes: a mutation update.

Human Mutation

Nuytemans, Karen K; Theuns, Jessie J; Cruts, Marc M; Van Broeckhoven, Christine C

Publication Date: 2010-07

Variant appearance in text: LRRK2: 2857T>C; rs7966550

PubMed Link: 20506312

Variant Present in the following documents:

• humu0031-0763-SD1.pdf

View BVdb publication page

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Parkinson's disease and low frequency alleles found together throughout LRRK2.

Annals Of Human Genetics

Paisán-Ruiz, Coro C; Washecka, Nicole N; Nath, Priti P; Singleton, Andrew B AB; Corder, Elizabeth H EH

Publication Date: 2009-07

Variant appearance in text: rs7966550

PubMed Link: 19489756

Variant Present in the following documents:

• Main text

View BVdb publication page

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LRRK2 G2019S in families with Parkinson disease who originated from Europe and the Middle East: evidence of two distinct founding events beginning two millennia ago.

American Journal Of Human Genetics

Zabetian, Cyrus P CP; Hutter, Carolyn M CM; Yearout, Dora D; Lopez, Alexis N AN; Factor, Stewart A SA; Griffith, Alida A; Leis, Berta C BC; Bird, Thomas D TD; Nutt, John G JG; Higgins, Donald S DS; Roberts, John W JW; Kay, Denise M DM; Edwards, Karen L KL; Samii, Ali A; Payami, Haydeh H

Publication Date: 2006-10

Variant appearance in text: rs7966550

PubMed Link: 16960813

Variant Present in the following documents:

• Main text

View BVdb publication page

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Testing association between LRRK2 and Parkinson's disease and investigating linkage disequilibrium.

Journal Of Medical Genetics

Paisán-Ruíz, C C; Evans, E W EW; Jain, S S; Xiromerisiou, G G; Gibbs, J R JR; Eerola, J J; Gourbali, V V; Hellström, O O; Duckworth, J J; Papadimitriou, A A; Tienari, P J PJ; Hadjigeorgiou, G M GM; Singleton, A B AB

Publication Date: 2006-02

Variant appearance in text: LRRK2: L953L; rs7966550

PubMed Link: 16467219

Variant Present in the following documents:

• Main text

View BVdb publication page

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LRRK2 haplotype analyses in European and North African families with Parkinson disease: a common founder for the G2019S mutation dating from the 13th century.

American Journal Of Human Genetics

Lesage, Suzanne S; Leutenegger, Anne-Louise AL; Ibanez, Pablo P; Janin, Sabine S; Lohmann, Ebba E; Dürr, Alexandra A; Brice, Alexis A; ,

Publication Date: 2005-08

Variant appearance in text: rs7966550

PubMed Link: 16145815

Variant Present in the following documents:

• Main text

View BVdb publication page

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Identification of a novel LRRK2 mutation linked to autosomal dominant parkinsonism: evidence of a common founder across European populations.

American Journal Of Human Genetics

Kachergus, Jennifer J; Mata, Ignacio F IF; Hulihan, Mary M; Taylor, Julie P JP; Lincoln, Sarah S; Aasly, Jan J; Gibson, J Mark JM; Ross, Owen A OA; Lynch, Timothy T; Wiley, Joseph J; Payami, Haydeh H; Nutt, John J; Maraganore, Demetrius M DM; Czyzewski, Krzysztof K; Styczynska, Maria M; Wszolek, Zbigniew K ZK; Farrer, Matthew J MJ; Toft, Mathias M

Publication Date: 2005-04

Variant appearance in text: rs7966550

PubMed Link: 15726496

Variant Present in the following documents:

• Main text

View BVdb publication page

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