Publications:

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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: rs10878245

PubMed Link: 35768426

Variant Present in the following documents:

• Main text

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Multi-level evidence of an allelic hierarchy of USH2A variants in hearing, auditory processing and speech/language outcomes.

Communications Biology

Perrino, Peter A PA; Talbot, Lidiya L; Kirkland, Rose R; Hill, Amanda A; Rendall, Amanda R AR; Mountford, Hayley S HS; Taylor, Jenny J; , ; Buscarello, Alexzandrea N AN; Lahiri, Nayana N; Saggar, Anand A; Fitch, R Holly RH; Newbury, Dianne F DF

Publication Date: 2020-04-20

Variant appearance in text: rs10878245

PubMed Link: 32313182

Variant Present in the following documents:

• 42003_2020_885_MOESM2_ESM.xlsx, sheet 1

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GenePy - a score for estimating gene pathogenicity in individuals using next-generation sequencing data.

Bmc Bioinformatics

Mossotto, E E; Ashton, J J JJ; O'Gorman, L L; Pengelly, R J RJ; Beattie, R M RM; MacArthur, B D BD; Ennis, S S

Publication Date: 2019-05-16

Variant appearance in text: rs10878245

PubMed Link: 31096927

Variant Present in the following documents:

• Main text
• 12859_2019_Article_2877.pdf

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Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation

Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H

Publication Date: 2017

Variant appearance in text: rs10878245

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

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Analysis on the susceptibility genes in two chinese pedigrees with familial Parkinson's disease.

Neurology Research International

Xu, Changshui C; Xu, Jun J; Zhang, Yanmin Y; Ma, Jianjun J; Kawakami, Hideshi H; Maruyama, Hirofumi H; Kamada, Masaki M

Publication Date: 2010

Variant appearance in text: rs10878245

PubMed Link: 21188226

Variant Present in the following documents:

• Main text
• NRI2010-674740.pdf

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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: rs10878245

PubMed Link: 20506312

Variant Present in the following documents:

• humu0031-0763-SD1.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: rs10878245

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: rs10878245

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: rs10878245

PubMed Link: 17614198

Variant Present in the following documents:

• Main text

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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: rs10878245

PubMed Link: 16960813

Variant Present in the following documents:

• Main text

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