Lista de obras -

"Devolution" of bipedality

artículo científico publicado en 2008

A 52-year-old man with cognitive decline, seizure and stroke

artículo científico publicado en 2004

A dynamic view of depressive symptoms and neurocognitive change among patients with coronary artery disease

artículo científico publicado en 2012

A novel autosomal recessive malformation syndrome associated with developmental delay and distinctive facies maps to 16ptel in the Hutterite population

artículo científico publicado en 2010

A peroxisomal disorder of severe intellectual disability, epilepsy, and cataracts due to fatty acyl-CoA reductase 1 deficiency

artículo científico publicado en 2014

Adult onset spinocerebellar ataxia in a Canadian movement disorders clinic

artículo científico publicado en 2005

An Algorithm Measuring Donor Cell-Free DNA in Plasma of Cellular and Solid Organ Transplant Recipients That Does Not Require Donor or Recipient Genotyping

artículo científico publicado en 2016

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge.

artículo científico publicado en 2014

An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes ⬇️

scientific journal article

Association between Lifetime Physical Activity and Cognitive Functioning in Middle-Aged and Older Community Dwelling Adults: Results from the Brain in Motion Study.

artículo científico publicado en 2015

Autosomal-Recessive Intellectual Disability with Cerebellar Atrophy Syndrome Caused by Mutation of the Manganese and Zinc Transporter Gene SLC39A8.

artículo científico publicado en 2015

Cardiometabolic risk factors predict cerebrovascular health in older adults: results from the Brain in Motion study.

artículo científico publicado en 2016

Copy-number variations are enriched for neurodevelopmental genes in children with developmental coordination disorder

artículo científico publicado en 2016

Cytogenetic and molecular characterization of a de-novo cryptic deletion of 7p21 associated with an apparently balanced translocation and complex craniosynostosis

artículo científico publicado en 2007

Data sharing as a national quality improvement program: reporting on BRCA1 and BRCA2 variant-interpretation comparisons through the Canadian Open Genetics Repository (COGR).

artículo científico

Development of a diagnostic DNA chip to screen for 30 autosomal recessive disorders in the Hutterite population

artículo científico publicado en 2016

Disrupted auto-regulation of the spliceosomal gene SNRPB causes cerebro-costo-mandibular syndrome

artículo científico publicado en 2014

Evaluation of BRCA1 and BRCA2 mutation prevalence, risk prediction models and a multistep testing approach in French-Canadian families with high risk of breast and ovarian cancer

artículo científico publicado en 2006

Evidence of association between sleep quality and APOE ε4 in healthy older adults: A pilot study

artículo científico publicado en 2016

Expansion of phenotype and genotypic data in CRB2-related syndrome

artículo científico publicado en 2016

GeneMatcher aids in the identification of a new malformation syndrome with intellectual disability, unique facial dysmorphisms, and skeletal and connective tissue abnormalities caused by de novo variants in HNRNPK.

artículo científico publicado en 2015

Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome

artículo científico publicado en 2012

Homozygous deletion of the very low density lipoprotein receptor gene causes autosomal recessive cerebellar hypoplasia with cerebral gyral simplification

artículo científico publicado en 2005

Identification of novel mutations confirms PDE4D as a major gene causing acrodysostosis.

artículo científico publicado en 2012

Intellectual disability associated with a homozygous missense mutation in THOC6

artículo científico publicado en 2013

Matching two independent cohorts validates DPH1 as a gene responsible for autosomal recessive intellectual disability with short stature, craniofacial, and ectodermal anomalies

artículo científico publicado en 2015

Meckel syndrome in the Hutterite population is actually a Joubert-related cerebello-oculo-renal syndrome

artículo científico publicado en 2007

Mutations in CSPP1, encoding a core centrosomal protein, cause a range of ciliopathy phenotypes in humans

artículo científico publicado en 2013

Mutations in Fibronectin Cause a Subtype of Spondylometaphyseal Dysplasia with "Corner Fractures".

artículo científico publicado en 2017

Mutations in LAMA1 cause cerebellar dysplasia and cysts with and without retinal dystrophy

artículo científico publicado en 2014

Mutations in VLDLR as a cause for autosomal recessive cerebellar ataxia with mental retardation (dysequilibrium syndrome)

artículo científico publicado en 2009

Mutations in VLDLR associated with ataxia with secondary vitamin E deficiency ⬇️

artículo científico publicado el 27 de junio de 2013

Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency

artículo científico publicado en 2017

Optimizing genotype quality metrics for individual exomes and cohort analysis

artículo científico publicado en 2012

Pathogenicity of two COQ7 mutations and responses to 2,4-dihydroxybenzoate bypass treatment

artículo científico publicado en 2017

Polymorphisms in multiple genes are associated with resting heart rate in a stepwise allele-dependent manner.

artículo científico publicado en 2008

RTTN Mutations Cause Primary Microcephaly and Primordial Dwarfism in Humans

artículo científico publicado en 2015

Recessive TRAPPC11 mutations cause a disease spectrum of limb girdle muscular dystrophy and myopathy with movement disorder and intellectual disability

artículo científico publicado en 2013

TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological Manifestations

scientific journal article

TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zone

artículo científico publicado en 2011

The effect of iron status on vascular health

artículo científico publicado en 2006

The role of serotonin receptor alleles and environmental stressors in the development of post-concussive symptoms after pediatric mild traumatic brain injury

artículo científico publicado en 2013

Two De Novo Mutations in an Autistic Child Who Had Previously Undergone Transplantation for Dilated Cardiomyopathy: The Importance of Keeping an Open Mind

artículo científico publicado en 2016

Unusual clinical, laboratory, and muscle histopathological findings in a family with myotonic dystrophy type 2.

artículo científico publicado en 2007

Uptake of Predictive Genetic Testing and Cardiac Evaluation for Children at Risk for an Inherited Arrhythmia or Cardiomyopathy.

artículo científico

Lista de obras de

"Devolution" of bipedality

A 52-year-old man with cognitive decline, seizure and stroke

A dynamic view of depressive symptoms and neurocognitive change among patients with coronary artery disease

A novel autosomal recessive malformation syndrome associated with developmental delay and distinctive facies maps to 16ptel in the Hutterite population

A peroxisomal disorder of severe intellectual disability, epilepsy, and cataracts due to fatty acyl-CoA reductase 1 deficiency

Adult onset spinocerebellar ataxia in a Canadian movement disorders clinic

An Algorithm Measuring Donor Cell-Free DNA in Plasma of Cellular and Solid Organ Transplant Recipients That Does Not Require Donor or Recipient Genotyping

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge.

An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes ⬇️

Association between Lifetime Physical Activity and Cognitive Functioning in Middle-Aged and Older Community Dwelling Adults: Results from the Brain in Motion Study.

Autosomal-Recessive Intellectual Disability with Cerebellar Atrophy Syndrome Caused by Mutation of the Manganese and Zinc Transporter Gene SLC39A8.

Cardiometabolic risk factors predict cerebrovascular health in older adults: results from the Brain in Motion study.

Copy-number variations are enriched for neurodevelopmental genes in children with developmental coordination disorder

Cytogenetic and molecular characterization of a de-novo cryptic deletion of 7p21 associated with an apparently balanced translocation and complex craniosynostosis

Data sharing as a national quality improvement program: reporting on BRCA1 and BRCA2 variant-interpretation comparisons through the Canadian Open Genetics Repository (COGR).

Development of a diagnostic DNA chip to screen for 30 autosomal recessive disorders in the Hutterite population

Disrupted auto-regulation of the spliceosomal gene SNRPB causes cerebro-costo-mandibular syndrome

Evaluation of BRCA1 and BRCA2 mutation prevalence, risk prediction models and a multistep testing approach in French-Canadian families with high risk of breast and ovarian cancer

Evidence of association between sleep quality and APOE ε4 in healthy older adults: A pilot study

Expansion of phenotype and genotypic data in CRB2-related syndrome

GeneMatcher aids in the identification of a new malformation syndrome with intellectual disability, unique facial dysmorphisms, and skeletal and connective tissue abnormalities caused by de novo variants in HNRNPK.

Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome

Homozygous deletion of the very low density lipoprotein receptor gene causes autosomal recessive cerebellar hypoplasia with cerebral gyral simplification

Identification of novel mutations confirms PDE4D as a major gene causing acrodysostosis.

Intellectual disability associated with a homozygous missense mutation in THOC6

Matching two independent cohorts validates DPH1 as a gene responsible for autosomal recessive intellectual disability with short stature, craniofacial, and ectodermal anomalies

Meckel syndrome in the Hutterite population is actually a Joubert-related cerebello-oculo-renal syndrome

Mutations in CSPP1, encoding a core centrosomal protein, cause a range of ciliopathy phenotypes in humans

Mutations in Fibronectin Cause a Subtype of Spondylometaphyseal Dysplasia with "Corner Fractures".

Mutations in LAMA1 cause cerebellar dysplasia and cysts with and without retinal dystrophy

Mutations in VLDLR as a cause for autosomal recessive cerebellar ataxia with mental retardation (dysequilibrium syndrome)

Mutations in VLDLR associated with ataxia with secondary vitamin E deficiency ⬇️

Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency

Optimizing genotype quality metrics for individual exomes and cohort analysis

Pathogenicity of two COQ7 mutations and responses to 2,4-dihydroxybenzoate bypass treatment

Polymorphisms in multiple genes are associated with resting heart rate in a stepwise allele-dependent manner.

RTTN Mutations Cause Primary Microcephaly and Primordial Dwarfism in Humans

Recessive TRAPPC11 mutations cause a disease spectrum of limb girdle muscular dystrophy and myopathy with movement disorder and intellectual disability

TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological Manifestations

TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zone

The effect of iron status on vascular health

The role of serotonin receptor alleles and environmental stressors in the development of post-concussive symptoms after pediatric mild traumatic brain injury

Two De Novo Mutations in an Autistic Child Who Had Previously Undergone Transplantation for Dilated Cardiomyopathy: The Importance of Keeping an Open Mind

Unusual clinical, laboratory, and muscle histopathological findings in a family with myotonic dystrophy type 2.

Uptake of Predictive Genetic Testing and Cardiac Evaluation for Children at Risk for an Inherited Arrhythmia or Cardiomyopathy.