Anastasia Illarionova
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View article: TMEM175, SCARB2 and CTSB associations with Parkinson’s disease risk across populations
TMEM175, SCARB2 and CTSB associations with Parkinson’s disease risk across populations Open
Genome-wide association study of Parkinson’s disease (PD) identified common variants associated with lysosomal mechanism, including TMEM175, SCARB2 , and CTSB . We investigated the association between common and rare variants across popula…
View article: The LRRK2 p.L1795F variant causes Parkinson’s disease in the European population
The LRRK2 p.L1795F variant causes Parkinson’s disease in the European population Open
View article: Team Science Approaches to Unravel Monogenic Parkinson's Disease on a Global Scale
Team Science Approaches to Unravel Monogenic Parkinson's Disease on a Global Scale Open
Background Until recently, about three‐quarters of all monogenic Parkinson's disease (PD) studies were performed in European/White ancestry, thereby severely limiting our insights into genotype–phenotype relationships at a global scale. Ob…
View article: Understanding monogenic Parkinson's disease at a global scale
Understanding monogenic Parkinson's disease at a global scale Open
Until recently, about three-quarters of all monogenic Parkinson's disease (PD) studies were performed in European/White ancestry, thereby severely limiting our insights into genotype-phenotype relationships at global scale. The first syste…
View article: Author Correction: Elucidating causative gene variants in hereditary Parkinson’s disease in the Global Parkinson’s Genetics Program (GP2)
Author Correction: Elucidating causative gene variants in hereditary Parkinson’s disease in the Global Parkinson’s Genetics Program (GP2) Open
View article: Defining the causes of sporadic Parkinson’s disease in the global Parkinson’s genetics program (GP2)
Defining the causes of sporadic Parkinson’s disease in the global Parkinson’s genetics program (GP2) Open
View article: Elucidating causative gene variants in hereditary Parkinson’s disease in the Global Parkinson’s Genetics Program (GP2)
Elucidating causative gene variants in hereditary Parkinson’s disease in the Global Parkinson’s Genetics Program (GP2) Open
View article: Author Correction: The IPDGC/GP2 Hackathon - an open science event for training in data science, genomics, and collaboration using Parkinson’s disease data
Author Correction: The IPDGC/GP2 Hackathon - an open science event for training in data science, genomics, and collaboration using Parkinson’s disease data Open
Correction to: npj Parkinson’s Disease https://doi.org/10.1038/s41531-023-00472-6, published online 04 March 2023//
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\nIn this article the affiliation details for Alastair J Noyce, Jonggeol Jeff Kim, Isabelle Francesca Foote, Sumit Dey w…
View article: The IPDGC/GP2 Hackathon - an open science event for training in data science, genomics, and collaboration using Parkinson’s disease data
The IPDGC/GP2 Hackathon - an open science event for training in data science, genomics, and collaboration using Parkinson’s disease data Open
View article: The Foundational Data Initiative for Parkinson Disease: Enabling efficient translation from genetic maps to mechanism
The Foundational Data Initiative for Parkinson Disease: Enabling efficient translation from genetic maps to mechanism Open
The Foundational Data Initiative for Parkinson Disease (FOUNDIN-PD) is an international collaboration producing fundamental resources for Parkinson disease (PD). FOUNDIN-PD generated a multi-layered molecular dataset in a cohort of induced…
View article: Genome‐Wide Analysis of Structural Variants in Parkinson Disease
Genome‐Wide Analysis of Structural Variants in Parkinson Disease Open
Objective Identification of genetic risk factors for Parkinson disease (PD) has to date been primarily limited to the study of single nucleotide variants, which only represent a small fraction of the genetic variation in the human genome. …
View article: Global Parkinson’s Genetics Program (GP2) Monogenic Network Protocol: Elucidating causative gene variants in hereditary Parkinson’s disease
Global Parkinson’s Genetics Program (GP2) Monogenic Network Protocol: Elucidating causative gene variants in hereditary Parkinson’s disease Open
The Monogenic Network of the Global Parkinson’s Genetics Program (GP2) aims to create an efficient infrastructure to accelerate the identification of novel genetic causes of Parkinson’s disease (PD) and to improve our understanding of alre…
View article: Rescue of the increased susceptibility to Mild Chronic Oxidative Stress of iNeurons carrying the MAPT Chromosome 17q21.3 H1/H1 risk allele by FDA-approved compounds
Rescue of the increased susceptibility to Mild Chronic Oxidative Stress of iNeurons carrying the MAPT Chromosome 17q21.3 H1/H1 risk allele by FDA-approved compounds Open
The microtubule associated protein tau (MAPT) chromosome 17q21.31 locus lies within a region of high linkage disequilibrium (LD) conferring two extended haplotypes commonly referred to as H1 and H2. The major haplotype, H1 has been genetic…
View article: The third international hackathon for applying insights into large-scale genomic composition to use cases in a wide range of organisms
The third international hackathon for applying insights into large-scale genomic composition to use cases in a wide range of organisms Open
In October 2021, 59 scientists from 14 countries and 13 U.S. states collaborated virtually in the Third Annual Baylor College of Medicine & DNANexus Structural Variation hackathon. The goal of the hackathon was to advance research on struc…
View article: The IPDGC/GP2 Hackathon - an open science event for training in data science, genomics, and collaboration using Parkinson’s disease data
The IPDGC/GP2 Hackathon - an open science event for training in data science, genomics, and collaboration using Parkinson’s disease data Open
Background Open science and collaboration are necessary to facilitate the advancement of Parkinson’s disease (PD) research. Hackathons are collaborative events that bring together people with different skill sets and backgrounds to generat…
View article: The Foundational data initiative for Parkinson’s disease (FOUNDIN-PD): enabling efficient translation from genetic maps to mechanism
The Foundational data initiative for Parkinson’s disease (FOUNDIN-PD): enabling efficient translation from genetic maps to mechanism Open
The FOUNdational Data INitiative for Parkinson’s Disease (FOUNDIN-PD) is an international collaboration producing fundamental resources for Parkinson’s disease (PD). FOUNDIN-PD generated a multi-layered molecular dataset in a cohort of ind…
View article: The Parkinson's Disease <scp>Genome‐Wide</scp> Association Study Locus Browser
The Parkinson's Disease <span>Genome‐Wide</span> Association Study Locus Browser Open
Background Parkinson's disease (PD) is a neurodegenerative disease with an often complex component identifiable by genome‐wide association studies. The most recent large‐scale PD genome‐wide association studies have identified more than 90…
View article: The Parkinson’s Disease GWAS Locus Browser
The Parkinson’s Disease GWAS Locus Browser Open
Parkinson’s disease (PD) is a neurodegenerative disease with an often complex genetic component identifiable by genome-wide association studies (GWAS). The most recent large scale PD GWASes have identified more than 90 independent risk var…