Publications:

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Comprehensive germline and somatic genomic profiles of Chinese patients with biliary tract cancer.

Frontiers In Oncology

Yu, Haipeng H; Xu, Yan Y; Gao, Wei W; Li, Mei M; He, Ji'an J; Deng, Xiaoqian X; Xing, Wenge W

Publication Date: 2022

Variant appearance in text: LRRK2: R1628H

PubMed Link: 36072793

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Comprehensive functional genomic analyses link APC somatic mutation and mRNA-miRNA networks to the clinical outcome of stage-III colorectal cancer patients.

Biomedical Journal

Chiang, Sum-Fu SF; Huang, Heng-Hsuan HH; Tsai, Wen-Sy WS; Chin-Ming Tan, Bertrand B; Yang, Chia-Yu CY; Huang, Po-Jung PJ; Yi-Feng Chang, Ian I; Lin, Jiarong J; Lu, Pei-Shan PS; Chin, En E; Liu, Yu-Hao YH; Yu, Jau-Song JS; Chiang, Jy-Ming JM; Hung, Hsin-Yuan HY; You, Jeng-Fu JF; Liu, Hsuan H

Publication Date: 2022-04

Variant appearance in text: LRRK2: R1628H

PubMed Link: 35550340

Variant Present in the following documents:

• mmc1.xlsx, sheet 1

View BVdb publication page

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Modeling alpha-synuclein pathology in a human brain-chip to assess blood-brain barrier disruption.

Nature Communications

Pediaditakis, Iosif I; Kodella, Konstantia R KR; Manatakis, Dimitris V DV; Le, Christopher Y CY; Hinojosa, Chris D CD; Tien-Street, William W; Manolakos, Elias S ES; Vekrellis, Kostas K; Hamilton, Geraldine A GA; Ewart, Lorna L; Rubin, Lee L LL; Karalis, Katia K

Publication Date: 2021-10-08

Variant appearance in text: rs33949390

PubMed Link: 34625559

Variant Present in the following documents:

• Main text
• 41467_2021_Article_26066.pdf

View BVdb publication page

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Differences in MTHFR and LRRK2 variant's association with sporadic Parkinson's disease in Mexican Mestizos correlated to Native American ancestry.

Npj Parkinson'S Disease

Romero-Gutiérrez, Elizabeth E; Vázquez-Cárdenas, Paola P; Moreno-Macías, Hortensia H; Salas-Pacheco, José J; Tusié-Luna, Teresa T; Arias-Carrión, Oscar O

Publication Date: 2021-02-11

Variant appearance in text: rs33949390

PubMed Link: 33574311

Variant Present in the following documents:

• Main text
• 41531_2021_Article_157.pdf

View BVdb publication page

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Protective Variants in Alzheimer's Disease.

Current Genetic Medicine Reports

Andrews, Shea J SJ; Fulton-Howard, Brian B; Goate, Alison A

Publication Date: 2019-03

Variant appearance in text: rs33949390

PubMed Link: 33117616

Variant Present in the following documents:

• Main text

View BVdb publication page

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A genetic analysis of a Spanish population with early onset Parkinson's disease.

Plos One

Cristina, Tejera-Parrado TP; Pablo, Mir M; Teresa, Periñán María PM; Lydia, Vela-Desojo VD; Irene, Abreu-Rodríguez AR; Araceli, Alonso-Cánovas AC; Inmaculada, Bernal-Bernal BB; Marta, Bonilla-Toribio BT; Dolores, Buiza-Rueda BR; José, Catalán-Alonso María CM; Rocío, García-Ramos GR; José, García-Ruiz Pedro GP; Ismael, Huertas-Fernández HF; Silvia, Jesús J; Labrador, Miguel A-Espinosa MA; Lydia, López-Manzanares LM; Carlos, Martínez-Castrillo Juan MJ; Posada, Ignacio J IJ; Ana, Rojo-Sebastián RS; Cristina, Ruiz-Huete RH; Javier, Del Val DV; Gómez-Garre, Pilar P

Publication Date: 2020

Variant appearance in text: LRRK2: R1628H

PubMed Link: 32870915

Variant Present in the following documents:

• pone.0238098.s003.pdf

View BVdb publication page

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The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cell Research

Cao, Yanan Y; Li, Lin L; Xu, Min M; Feng, Zhimin Z; Sun, Xiaohui X; Lu, Jieli J; Xu, Yu Y; Du, Peina P; Wang, Tiange T; Hu, Ruying R; Ye, Zhen Z; Shi, Lixin L; Tang, Xulei X; Yan, Li L; Gao, Zhengnan Z; Chen, Gang G; Zhang, Yinfei Y; Chen, Lulu L; Ning, Guang G; Bi, Yufang Y; Wang, Weiqing W; ,

Publication Date: 2020-09

Variant appearance in text: LRRK2: 4883G>A; Arg1628His; rs33949390

PubMed Link: 32355288

Variant Present in the following documents:

• 41422_2020_322_MOESM14_ESM.xlsx, sheet 1

View BVdb publication page

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Parkinson's disease in China: a forty-year growing track of bedside work.

Translational Neurodegeneration

Li, Gen G; Ma, Jianfang J; Cui, Shishuang S; He, Yixi Y; Xiao, Qin Q; Liu, Jun J; Chen, Shengdi S

Publication Date: 2019

Variant appearance in text: rs33949390

PubMed Link: 31384434

Variant Present in the following documents:

• Main text
• 40035_2019_Article_162.pdf

View BVdb publication page

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Comprehensive immunoproteogenomic analyses of malignant pleural mesothelioma.

Jci Insight

Lee, Hyun-Sung HS; Jang, Hee-Jin HJ; Choi, Jong Min JM; Zhang, Jun J; de Rosen, Veronica Lenge VL; Wheeler, Thomas M TM; Lee, Ju-Seog JS; Tu, Thuydung T; Jindra, Peter T PT; Kerman, Ronald H RH; Jung, Sung Yun SY; Kheradmand, Farrah F; Sugarbaker, David J DJ; Burt, Bryan M BM

Publication Date: 2018-04-05

Variant appearance in text: LRRK2: R1628H

PubMed Link: 29618661

Variant Present in the following documents:

• jciinsight-3-98575-s002.xlsx, sheet 1

View BVdb publication page

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Multilevel genomics of colorectal cancers with microsatellite instability-clinical impact of JAK1 mutations and consensus molecular subtype 1.

Genome Medicine

Sveen, Anita A; Johannessen, Bjarne B; Tengs, Torstein T; Danielsen, Stine A SA; Eilertsen, Ina A IA; Lind, Guro E GE; Berg, Kaja C G KCG; Leithe, Edward E; Meza-Zepeda, Leonardo A LA; Domingo, Enric E; Myklebost, Ola O; Kerr, David D; Tomlinson, Ian I; Nesbakken, Arild A; Skotheim, Rolf I RI; Lothe, Ragnhild A RA

Publication Date: 2017-05-24

Variant appearance in text: LRRK2: R1628H

PubMed Link: 28539123

Variant Present in the following documents:

• 13073_2017_434_MOESM1_ESM.xlsx, sheet 5

View BVdb publication page

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Low statistical power in biomedical science: a review of three human research domains.

Royal Society Open Science

Dumas-Mallet, Estelle E; Button, Katherine S KS; Boraud, Thomas T; Gonon, Francois F; Munafò, Marcus R MR

Publication Date: 2017-02

Variant appearance in text: rs33949390

PubMed Link: 28386409

Variant Present in the following documents:

• rsos160254supp3.xlsx, sheet 1
• rsos160254supp3.xlsx, sheet 9

View BVdb publication page

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Poor replication validity of biomedical association studies reported by newspapers.

Plos One

Dumas-Mallet, Estelle E; Smith, Andy A; Boraud, Thomas T; Gonon, François F

Publication Date: 2017

Variant appearance in text: rs33949390

PubMed Link: 28222122

Variant Present in the following documents:

• pone.0172650.s003.xlsx, sheet 7

View BVdb publication page

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Systematic analysis of genetic variants in Han Chinese patients with sporadic Parkinson's disease.

Scientific Reports

Yuan, Lamei L; Song, Zhi Z; Deng, Xiong X; Zheng, Wen W; Guo, Yi Y; Yang, Zhijian Z; Deng, Hao H

Publication Date: 2016-09-22

Variant appearance in text: rs33949390

PubMed Link: 27653456

Variant Present in the following documents:

• Main text
• srep33850.pdf
• srep33850-s1.pdf

View BVdb publication page

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A Landscape of Pharmacogenomic Interactions in Cancer.

Cell

Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ

Publication Date: 2016-07-28

Variant appearance in text: LRRK2: 4883G>A; R1628H

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 2

View BVdb publication page

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Replication Validity of Initial Association Studies: A Comparison between Psychiatry, Neurology and Four Somatic Diseases.

Plos One

Dumas-Mallet, Estelle E; Button, Katherine K; Boraud, Thomas T; Munafo, Marcus M; Gonon, François F

Publication Date: 2016

Variant appearance in text: rs33949390

PubMed Link: 27336301

Variant Present in the following documents:

• pone.0158064.s002.xlsx, sheet 8

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: 4883G>A; Arg1628His; rs33949390

PubMed Link: 22415848

Variant Present in the following documents:

• Main text

View BVdb publication page

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