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List of works by Simon L Girard

Autosomal-dominant locus for Restless Legs Syndrome in French-Canadians on chromosome 16p12.1.

scientific article

Comparison of sequencing based CNV discovery methods using monozygotic twin quartets

scientific article published on 26 March 2015

Cross-disorder genome-wide analyses suggest a complex genetic relationship between Tourette's syndrome and OCD.

scientific article

De novo variants in sporadic cases of childhood onset schizophrenia

scientific article published on 28 October 2015

Deleterious mutations in the essential mRNA metabolism factor, hGle1, in amyotrophic lateral sclerosis

scientific article

Exome sequencing identifies FUS mutations as a cause of essential tremor

scientific article

Exome sequencing of sporadic childhood-onset schizophrenia suggests the contribution of X-linked genes in males

article

Functional variants of POC5 identified in patients with idiopathic scoliosis

scientific article

Genome-wide association study in essential tremor identifies three new loci

scientific article published on 20 October 2016

Genome-wide association study of Tourette's syndrome

scientific article

Global characterization of copy number variants in epilepsy patients from whole genome sequencing

scientific article published on 12 April 2018

High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies

scientific article published in November 2017

Human copy number variants are enriched in regions of low mappability

Human copy number variants are enriched in regions of low mappability

Impact of Paternal Age at Conception on Human Health

scientific article published on 01 January 2019

Increased exonic de novo mutation rate in individuals with schizophrenia

scientific article published on 10 July 2011

Investigating the association and causal relationship between restless legs syndrome and essential tremor

Investigation of rare variants in LRP1, KPNA1, ALS2CL and ZNF480 genes in schizophrenia patients reflects genetic heterogeneity of the disease

scientific article published on 20 February 2013

Mutation burden of rare variants in schizophrenia candidate genes

scientific article published on 3 June 2015

Mutations in DCC cause congenital mirror movements.

scientific article

No rare deleterious variants from STK32B, PPARGC1A, and CTNNA3 are associated with essential tremor

scientific article published on 19 October 2017

Parkinson's Disease Genetic Loci in Rapid Eye Movement Sleep Behavior Disorder.

scientific article published on May 2015

Partitioning the heritability of Tourette syndrome and obsessive compulsive disorder reveals differences in genetic architecture

scientific article published in October 2013

Paternal Age Explains a Major Portion of De Novo Germline Mutation Rate Variability in Healthy Individuals

scientific article

Polygenic risk scores of several subtypes of epilepsies in a founder population

scientific article published on 27 March 2020

Rare coding variants in genes encoding GABAA receptors in genetic generalised epilepsies: an exome-based case-control study

article

Restless legs syndrome-associated MEIS1 risk variant influences iron homeostasis

scientific article published on 27 June 2011

Schizophrenia genetics: putting all the pieces together

scientific article published on June 2012

The role of the melanoma gene MC1R in Parkinson disease and REM sleep behavior disorder

scientific article published on 06 April 2016

Where are the missing pieces of the schizophrenia genetics puzzle?

scientific article

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