Dan Spiegelman

Montreal Neurological Institute and Hospital — Canada

Medicine · Health Sciences

39h-index8.5kcitations147works1.72yr avg
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Research Topics

Parkinson's Disease Mechanisms and Treatments(40), Genetics and Neurodevelopmental Disorders(37), Genomics and Rare Diseases(25), Lysosomal Storage Disorders Research(23), Genomic variations and chromosomal abnormalities(23)

Publications147 total

Rare-variant burden across lysosomal genes implicates sialylation and ganglioside metabolism in Parkinson’s disease
2026Open Access
Copy Number Variant Duplications Associated with Essential Tremor
Tremor and Other Hyperkinetic Movements·2026Open Access
A multi-ancestry genetic reference for the Quebec population
Nature Communications·2026Open Access
The Genetic and Molecular Analyses of Rare Candidate Germline BRIP1/FANCJ Variants Implicated in Hereditary Breast and Ovarian Cancers
International Journal of Molecular Sciences·2026Open Access
Visual outcomes in a series of patients with papilledema and comorbid nutritional deficiency
Frontiers in Ophthalmology·2026Open Access
Lack of association between G6PD variants and Parkinson disease
Human Genetics and Genomics Advances·2025Open Access
Genome-wide association study of REM-sleep behaviour disorder identifies new risk loci
2025Open Access
De novo variant analysis of childhood-onset obsessive-compulsive disorder in the French-Canadian population
Translational Psychiatry·2025Open Access
A multi-ancestry genetic reference for the Quebec population
2025· 6 citedOpen Access
Novel germline and somatic variants in familial and sporadic meningioma genes
npj Genomic Medicine·2025Open Access
Lack of association between <i>G6PD</i> variants and Parkinson’s disease
2025Open Access
Lack of association between G6PD and Parkinson's disease
Parkinsonism & Related Disorders·2025
Lack of epistatic interaction of <i>SNCA</i> with <i>APOE</i> in synucleinopathies
Brain Communications·2025Open Access
Segpy: a streamlined, user-friendly pipeline for variant segregation analysis
2024Open Access
Identification of a Founder <scp><i>GLDN</i></scp> Variant Associated With “Lethal” Arthrogryposis in Nunavik Inuit: Implications for Obstetrical and Long‐Term Survivors' Management
American Journal of Medical Genetics Part A·2024Open Access
Correction: The Parkinson’s disease risk gene cathepsin B promotes fibrillar alpha-synuclein clearance, lysosomal function and glucocerebrosidase activity in dopaminergic neurons
Molecular Neurodegeneration·2024· 1 citedOpen Access
The Parkinson’s disease risk gene cathepsin B promotes fibrillar alpha-synuclein clearance, lysosomal function and glucocerebrosidase activity in dopaminergic neurons
Molecular Neurodegeneration·2024· 26 citedOpen Access
784 A combined radio-immunotherapy regimen eradicates late-stage tumors in mice
Regular and Young Investigator Award Abstracts·2024Open Access
<i>De novo</i> variant analysis of childhood-onset obsessive-compulsive disorder in the French-Canadian population
2024Open Access
Lack of Epistatic Interaction of <i>SNCA</i> with <i>APOE</i> in Synucleinopathies
2024Open Access
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Frequent Co-authors

Guy A. Rouleau(44), Patrick A. Dion(19), Ziv Gan‐Or(19), Nicolas Dupré(18), Alexandre Dionne‐Laporte(16), Fadi F. Hamdan(14), Ronald G. Lafrenière(14), Édouard Henrion(13), Jennifer A. Ruskey(13), Julie Gauthier(12), Yves Dauvilliers(12), Ridha Joober(11), Jacques L. Michaud(11), Pierre Drapeau(11), Sandra B. Laurent(11), Amirthagowri Ambalavanan(10), Edward A. Fon(10), Ousmane Diallo(9), Amélie Piton(9), Lan Xiong(8)