Lista de obras -

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

artículo científico publicado en 2014

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

scientific journal article

Cardiac features of a novel autosomal recessive dilated cardiomyopathic syndrome due to defective importation of mitochondrial protein

artículo científico publicado en 2007

Circulating miRNA biomarkers for Alzheimer's disease

artículo científico publicado en 2013

Comparative lipidomics of mouse brain exposed to enriched environment

artículo científico publicado en 2013

Congenital megalourethra: prenatal diagnosis and postnatal/autopsy findings in 10 cases ⬇️

artículo científico publicado el 5 de mayo de 2011

Copy number variants (CNVs) analysis in a deeply phenotyped cohort of individuals with intellectual disability (ID).

artículo científico publicado en 2014

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

artículo científico publicado en 2016

Correction: The value of diagnostic testing for parents of children with rare genetic diseases

scientific article published on 01 November 2019

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

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

artículo científico publicado en 2014

Exome sequencing identifies SMAD3 mutations as a cause of familial thoracic aortic aneurysm and dissection with intracranial and other arterial aneurysms

artículo científico publicado en 2011

Expansion of phenotype and genotypic data in CRB2-related syndrome

artículo científico publicado en 2016

FORGE Canada Consortium: outcomes of a 2-year national rare-disease gene-discovery project

artículo científico publicado en 2014

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

Hnrnpul1 controls transcription, splicing, and modulates skeletal and limb development in vivo

artículo científico publicado en 2022

How do interactions between early caregiving environment and genes influence health and behavior?

artículo científico

Identification of a new plasma biomarker of Alzheimer's disease using metabolomics technology

artículo científico publicado en 2011

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

artículo científico publicado en 2012

Impact of observed versus hypothesized service utilization on the incremental cost of first trimester screening and prenatal diagnosis for trisomy 21 in a Canadian province

artículo científico

Improving completeness of ascertainment and quality of information for pregnancies through linkage of administrative and clinical data records

artículo científico publicado en 2013

Increasing the quality of life from womb to grave: the importance of pregnancy and birth cohorts

artículo científico publicado en 2012

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

Microduplication and triplication of 22q11.2: a highly variable syndrome

artículo científico publicado en 2005

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

artículo científico publicado en 2014

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

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

Reduced plasma desmosterol-to-cholesterol ratio and longitudinal cognitive decline in Alzheimer's disease

artículo científico publicado en 2015

Submicroscopic deletions of 11q24-25 in individuals without Jacobsen syndrome: re-examination of the critical region by high-resolution array-CGH

artículo científico publicado en 2008

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 clinical application of genome-wide sequencing for monogenic diseases in Canada: Position Statement of the Canadian College of Medical Geneticists

artículo científico publicado en 2015

The geneticist's role in adult congenital heart disease

artículo científico publicado en 2006

The value of diagnostic testing for parents of children with rare genetic diseases

scientific article published on 26 June 2019

Lista de obras de

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

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

Cardiac features of a novel autosomal recessive dilated cardiomyopathic syndrome due to defective importation of mitochondrial protein

Circulating miRNA biomarkers for Alzheimer's disease

Comparative lipidomics of mouse brain exposed to enriched environment

Congenital megalourethra: prenatal diagnosis and postnatal/autopsy findings in 10 cases ⬇️

Copy number variants (CNVs) analysis in a deeply phenotyped cohort of individuals with intellectual disability (ID).

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

Correction: The value of diagnostic testing for parents of children with rare genetic diseases

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

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

Exome sequencing identifies SMAD3 mutations as a cause of familial thoracic aortic aneurysm and dissection with intracranial and other arterial aneurysms

Expansion of phenotype and genotypic data in CRB2-related syndrome

FORGE Canada Consortium: outcomes of a 2-year national rare-disease gene-discovery project

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

Hnrnpul1 controls transcription, splicing, and modulates skeletal and limb development in vivo

How do interactions between early caregiving environment and genes influence health and behavior?

Identification of a new plasma biomarker of Alzheimer's disease using metabolomics technology

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

Impact of observed versus hypothesized service utilization on the incremental cost of first trimester screening and prenatal diagnosis for trisomy 21 in a Canadian province

Improving completeness of ascertainment and quality of information for pregnancies through linkage of administrative and clinical data records

Increasing the quality of life from womb to grave: the importance of pregnancy and birth cohorts

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.

Microduplication and triplication of 22q11.2: a highly variable syndrome

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

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

Optimizing genotype quality metrics for individual exomes and cohort analysis

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

Reduced plasma desmosterol-to-cholesterol ratio and longitudinal cognitive decline in Alzheimer's disease

Submicroscopic deletions of 11q24-25 in individuals without Jacobsen syndrome: re-examination of the critical region by high-resolution array-CGH

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 clinical application of genome-wide sequencing for monogenic diseases in Canada: Position Statement of the Canadian College of Medical Geneticists

The geneticist's role in adult congenital heart disease

The value of diagnostic testing for parents of children with rare genetic diseases