Associated Papers
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Plos Genetics, 2025
Understanding Parkinson disease in Spain: Genetic and clinical insights.
Gómez-Garre P et al.
European Journal of Neurology, 2025
Parkinson's Disease Gene Screening in Familial Cases from Central and South America.
Lorenzo-Betancor O et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2024
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Parkinson's disease variant detection and disclosure: PD GENEration, a North American study.
Cook L et al.
Brain : a Journal of Neurology, 2024
High-content phenotypic screen to identify small molecule enhancers of Parkin-dependent ubiquitination and mitophagy.
Tufi R et al.
Slas Discovery : Advancing Life Sciences R & D, 2023
Heterozygous PRKN mutations are common but do not increase the risk of Parkinson's disease.
Zhu W et al.
Brain : a Journal of Neurology, 2022
Increased Stroke Risk in Patients with Parkinson's Disease with LRRK2 Mutations.
Macías-García D et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2022
α-Synuclein Deposition in Sympathetic Nerve Fibers in Genetic Forms of Parkinson's Disease.
Isonaka R et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2021
Genetics of Parkinson's disease in Brazil: a systematic review of monogenic forms.
Santos-Lobato BL et al.
Arquivos De Neuro-psiquiatria, 2021
Assessing the relationship between monoallelic PRKN mutations and Parkinson's risk.
Lubbe SJ et al.
Human Molecular Genetics, 2021
Genomic landscape of platinum resistant and sensitive testicular cancers.
Loveday C et al.
Nature Communications, 2020
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
Additional rare variant analysis in Parkinson's disease cases with and without known pathogenic mutations: evidence for oligogenic inheritance.
Lubbe SJ et al.
Human Molecular Genetics, 2016
Analysis of the genetic variability in Parkinson's disease from Southern Spain.
Bandrés-Ciga S et al.
Neurobiology of Aging, 2016
Integrated analysis of germline and somatic variants in ovarian cancer.
Kanchi KL et al.
Nature Communications, 2014
Genetic etiology of Parkinson disease associated with mutations in the SNCA, PARK2, PINK1, PARK7, and LRRK2 genes: a mutation update.
Nuytemans K et al.
Human Mutation, 2010
Parkin dosage mutations have greater pathogenicity in familial PD than simple sequence mutations.
Pankratz N et al.
Neurology, 2009