Publications:

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Multiomics dissection of molecular regulatory mechanisms underlying autoimmune-associated noncoding SNPs.

Jci Insight

Chen, Xiao-Feng XF; Guo, Ming-Rui MR; Duan, Yuan-Yuan YY; Jiang, Feng F; Wu, Hao H; Dong, Shan-Shan SS; Zhou, Xiao-Rong XR; Thynn, Hlaing Nwe HN; Liu, Cong-Cong CC; Zhang, Lin L; Guo, Yan Y; Yang, Tie-Lin TL

Publication Date: 2020-09-03

Variant appearance in text: rs11564205

PubMed Link: 32879140

Variant Present in the following documents:

• jciinsight-5-136477-s105.xlsx, sheet 5

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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: rs11564205

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM2_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM3_ESM.xlsx, sheet 1

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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: rs11564205

PubMed Link: 31324919

Variant Present in the following documents:

• awz191_supplementary_data.pdf

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Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells.

Stem Cell Reports

Garate, Zita Z; Quintana-Bustamante, Oscar O; Crane, Ana M AM; Olivier, Emmanuel E; Poirot, Laurent L; Galetto, Roman R; Kosinski, Penelope P; Hill, Collin C; Kung, Charles C; Agirre, Xabi X; Orman, Israel I; Cerrato, Laura L; Alberquilla, Omaira O; Rodriguez-Fornes, Fatima F; Fusaki, Noemi N; Garcia-Sanchez, Felix F; Maia, Tabita M TM; Ribeiro, Maria L ML; Sevilla, Julian J; Prosper, Felipe F; Jin, Shengfang S; Mountford, Joanne J; Guenechea, Guillermo G; Gouble, Agnes A; Bueren, Juan A JA; Davis, Brian R BR; Segovia, Jose C JC

Publication Date: 2015-12-08

Variant appearance in text: rs11564205

PubMed Link: 26549847

Variant Present in the following documents:

• mmc3.xlsx, sheet 1
• mmc3.xlsx, sheet 2

View BVdb publication page

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LRRK2 mutations in Parkinson's disease: confirmation of a gender effect in the Italian population.

Parkinsonism & Related Disorders

Cilia, Roberto R; Siri, Chiara C; Rusconi, Damiana D; Allegra, Roberta R; Ghiglietti, Andrea A; Sacilotto, Giorgio G; Zini, Michela M; Zecchinelli, Anna L AL; Asselta, Rosanna R; Duga, Stefano S; Paganoni, Anna M AM; Pezzoli, Gianni G; Seia, Manuela M; Goldwurm, Stefano S

Publication Date: 2014-08

Variant appearance in text: rs11564205

PubMed Link: 24816003

Variant Present in the following documents:

View BVdb publication page

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From interaction to co-association --a Fisher r-to-z transformation-based simple statistic for real world genome-wide association study.

Plos One

Yuan, Zhongshang Z; Liu, Hong H; Zhang, Xiaoshuai X; Li, Fangyu F; Zhao, Jinghua J; Zhang, Furen F; Xue, Fuzhong F

Publication Date: 2013

Variant appearance in text: rs11564205

PubMed Link: 23923021

Variant Present in the following documents:

• Main text
• pone.0070774.pdf

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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: rs11564205

PubMed Link: 19489756

Variant Present in the following documents:

• Main text

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Haplotype analysis of Lrrk2 R1441H carriers with parkinsonism.

Parkinsonism & Related Disorders

Ross, Owen A OA; Spanaki, Cleanthe C; Griffith, Alida A; Lin, Chin-Hsien CH; Kachergus, Jennifer J; Haugarvoll, Kristoffer K; Latsoudis, Helen H; Plaitakis, Andreas A; Ferreira, Joaquim J JJ; Sampaio, Cristina C; Bonifati, Vincenzo V; Wu, Ruey-Meei RM; Zabetian, Cyrus P CP; Farrer, Matthew J MJ

Publication Date: 2009-07

Variant appearance in text: rs11564205

PubMed Link: 18952485

Variant Present in the following documents:

• Main text

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Lrrk2 mutations in South America: A study of Chilean Parkinson's disease.

Neuroscience Letters

Perez-Pastene, Carolina C; Cobb, Stephanie A SA; Díaz-Grez, Fernando F; Hulihan, Mary M MM; Miranda, Marcelo M; Venegas, Pablo P; Godoy, Osvaldo Trujillo OT; Kachergus, Jennifer M JM; Ross, Owen A OA; Layson, Luis L; Farrer, Matthew J MJ; Segura-Aguilar, Juan J

Publication Date: 2007-07-18

Variant appearance in text: rs11564205

PubMed Link: 17614198

Variant Present in the following documents:

• Main text

View BVdb publication page

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