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Deletion of C9ORF72 results in motor neuron degeneration and stress sensitivity in C. elegans

PloS one, 2013-12, Vol.8 (12), p.e83450

2013

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The impact of phenotypic and genetic heterogeneity on results of genome wide association studies of complex diseases

PloS one, 2013-10, Vol.8 (10), p.e76295-e76295

2013

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Genetic perspective on the role of the autophagy-lysosome pathway in Parkinson disease

Autophagy, 2015-09, Vol.11 (9), p.1443-1457

2015

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De novo mutations in moderate or severe intellectual disability

PLoS genetics, 2014-10, Vol.10 (10), p.e1004772

2014

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Global brain gene expression analysis links glutamatergic and GABAergic alterations to suicide and major depression

PloS one, 2009-08, Vol.4 (8), p.e6585-e6585

2009

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TARDBP and FUS Mutations Associated with Amyotrophic Lateral Sclerosis: Summary and Update

Human mutation, 2013-06, Vol.34 (6), p.812-826

2013

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FUS and TARDBP but not SOD1 interact in genetic models of amyotrophic lateral sclerosis

PLoS genetics, 2011-08, Vol.7 (8), p.e1002214

2011

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Clinical Spectrum of Amyotrophic Lateral Sclerosis (ALS)

Cold Spring Harbor perspectives in medicine, 2017-08, Vol.7 (8), p.a024117

2017

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Genetics of Intracranial Aneurysms

Stroke (1970), 2018-03, Vol.49 (3), p.780-787

2018

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Defining the genetic connection linking amyotrophic lateral sclerosis (ALS) with frontotemporal dementia (FTD)

Trends in genetics, 2015-05, Vol.31 (5), p.263-273

2015

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Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: a gradient of severity in cognitive impairments

PLoS genetics, 2014-09, Vol.10 (9), p.e1004580-e1004580

2014

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Spinal cord extracts of amyotrophic lateral sclerosis spread TDP-43 pathology in cerebral organoids

PLoS genetics, 2023-02, Vol.19 (2), p.e1010606-e1010606

2023

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Reversibility and therapeutic development for neurodevelopmental disorders, insights from genetic animal models

Advanced drug delivery reviews, 2022-12, Vol.191, p.114562-114562, Article 114562

2022

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The Tanenbaum Open Science Institute: Leading a Paradigm Shift at the Montreal Neurological Institute

Neuron (Cambridge, Mass.), 2017-08, Vol.95 (5), p.1002-1006

2017

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Genetics of motor neuron disorders: new insights into pathogenic mechanisms

Nature reviews. Genetics, 2009-11, Vol.10 (11), p.769-782

2009

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Variation in genome-wide mutation rates within and between human families

Nature genetics, 2011-07, Vol.43 (7), p.712-714

2011

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Analysis of Heterozygous PRKN Variants and Copy‐Number Variations in Parkinson's Disease

Movement disorders, 2021-01, Vol.36 (1), p.178-187

2021

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Transcriptome-wide association study of attention deficit hyperactivity disorder identifies associated genes and phenotypes

Nature communications, 2019-10, Vol.10 (1), p.4450-7, Article 4450

2019

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TAR DNA-binding protein 43 (TDP-43) regulates stress granule dynamics via differential regulation of G3BP and TIA-1

Human molecular genetics, 2011-04, Vol.20 (7), p.1400-1410

2011

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Progress in the genetics of restless legs syndrome: the path ahead in the era of whole-genome sequencing

Sleep (New York, N.Y.), 2022-08, Vol.45 (8), p.1

2022

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Machine learning analysis of exome trios to contrast the genomic architecture of autism and schizophrenia

BMC psychiatry, 2020-02, Vol.20 (1), p.92-11, Article 92

2020

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The Classification of Autosomal Recessive Cerebellar Ataxias: a Consensus Statement from the Society for Research on the Cerebellum and Ataxias Task Force

Cerebellum (London, England), 2019-12, Vol.18 (6), p.1098-1125

2019

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Dissection of genetic factors associated with amyotrophic lateral sclerosis

Experimental neurology, 2014-12, Vol.262, p.91-101

2014

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A polymorphism in the glutamate metabotropic receptor 7 is associated with cognitive deficits in the early phases of psychosis

Schizophrenia research, 2022-11, Vol.249, p.56-62

2022

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Recessive mutations in >VPS13D cause childhood onset movement disorders

Annals of neurology, 2018-06, Vol.83 (6), p.1089-1095

2018

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Deletion of C9ORF72 results in motor neuron degeneration and stress sensitivity in C. elegans

The impact of phenotypic and genetic heterogeneity on results of genome wide association studies of complex diseases

Genetic perspective on the role of the autophagy-lysosome pathway in Parkinson disease

De novo mutations in moderate or severe intellectual disability

Global brain gene expression analysis links glutamatergic and GABAergic alterations to suicide and major depression

TARDBP and FUS Mutations Associated with Amyotrophic Lateral Sclerosis: Summary and Update

FUS and TARDBP but not SOD1 interact in genetic models of amyotrophic lateral sclerosis

Clinical Spectrum of Amyotrophic Lateral Sclerosis (ALS)

Genetics of Intracranial Aneurysms

Defining the genetic connection linking amyotrophic lateral sclerosis (ALS) with frontotemporal dementia (FTD)

Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: a gradient of severity in cognitive impairments

Spinal cord extracts of amyotrophic lateral sclerosis spread TDP-43 pathology in cerebral organoids

Reversibility and therapeutic development for neurodevelopmental disorders, insights from genetic animal models

The Tanenbaum Open Science Institute: Leading a Paradigm Shift at the Montreal Neurological Institute

Genetics of motor neuron disorders: new insights into pathogenic mechanisms

Variation in genome-wide mutation rates within and between human families

Analysis of Heterozygous PRKN Variants and Copy‐Number Variations in Parkinson's Disease

Transcriptome-wide association study of attention deficit hyperactivity disorder identifies associated genes and phenotypes

TAR DNA-binding protein 43 (TDP-43) regulates stress granule dynamics via differential regulation of G3BP and TIA-1

Progress in the genetics of restless legs syndrome: the path ahead in the era of whole-genome sequencing

Machine learning analysis of exome trios to contrast the genomic architecture of autism and schizophrenia

The Classification of Autosomal Recessive Cerebellar Ataxias: a Consensus Statement from the Society for Research on the Cerebellum and Ataxias Task Force

Dissection of genetic factors associated with amyotrophic lateral sclerosis

A polymorphism in the glutamate metabotropic receptor 7 is associated with cognitive deficits in the early phases of psychosis

Recessive mutations in >VPS13D cause childhood onset movement disorders

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