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Andrew Singleton
Affiliation : National Institutes of Health · National Institute of Neurological Disorders and Stroke · National Institute on Aging
- 20Publications (affiliation in the United States)
- 1194Total publications
- 133760Citations
- 160h-index
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Create my free profile Add my publicationsResearch areas
- Genetic Associations and Epidemiology
- Parkinson's Disease Mechanisms and Treatments
- Neurological disorders and treatments
- Alzheimer's disease research and treatments
- Dementia and Cognitive Impairment Research
Publications (20)
- CNV-Finder: streamlining copy number variation discovery
- Author Correction: TMEM175, SCARB2 and CTSB associations with Parkinson’s disease risk across populations
- CNV-Finder: streamlining copy number variation discovery.
- Insights into ancestral diversity in Parkinson’s disease risk: a comparative assessment of polygenic risk scores
- The LRRK2 p.L1795F variant causes Parkinson’s disease in the European population
- TMEM175, SCARB2 and CTSB associations with Parkinson’s disease risk across populations
- Multi-ancestry genome-wide association meta-analysis of Parkinson’s disease
- Defining the causes of sporadic 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)
- Clinical Variability of SYNJ1-Associated Early-Onset Parkinsonism
- Characterization of Recessive Parkinson Disease in a Large Multicenter Study
- Analysis of DNM3 and VAMP4 as genetic modifiers of LRRK2 Parkinson’s disease
- Genetic and Phenotypic Characterisation of Autosomal Recessive Parkinson's Disease in a Large Multicentre Cohort
- SLC25A46 Mutations Associated with Autosomal Recessive Cerebellar Ataxia in North African Families
- Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy
- Defects in the CAPN1 Gene Result in Alterations in Cerebellar Development and Cerebellar Ataxia in Mice and Humans
- Genetics of low spinal muscular atrophy carrier frequency in sub‐Saharan Africa
- Mutations in GBA2 Cause Autosomal-Recessive Cerebellar Ataxia with Spasticity
- The Val158Met COMT polymorphism is a modifier of the age at onset in Parkinson's disease with a sexual dimorphism
- Exome sequencing: an efficient diagnostic tool for complex neurodegenerative disorders
Co-authors
- Mike A. Nalls
- Cornelis Blauwendraat
- Hampton L. Leonard
- Dan Vitale
- Sara Bandrés‐Ciga
- Mary B. Makarious
- Dena G. Hernandez
- Kristin S. Levine
- Monia Benhamed Hammer
- Jesse Raphael Gibbs
- Sampath K. Arepalli
- Sean Chong
Bibliographic data from OpenAlex (open database).
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