List of works - Jillian S Parboosingh

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

scientific 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

scientific article

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

scientific article

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

scientific journal article

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

scientific article

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

scientific article

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

scientific article published on 06 February 2017

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

scientific article published on 03 July 2013

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

scientific article published on 11 August 2006

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

scientific article

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

scientific article

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

scientific article

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

scientific journal article

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.

scientific article

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

scientific article

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

scientific article published on 9 November 2012

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

scientific article

Intellectual disability associated with a homozygous missense mutation in THOC6

scientific article

RTTN Mutations Cause Primary Microcephaly and Primordial Dwarfism in Humans

scientific article published on 18 November 2015

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

scientific article

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

scientific article published on March 2012

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

scientific article published on November 2015

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

scientific article

Expansion of phenotype and genotypic data in CRB2-related syndrome

scientific article

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

scientific article published on 13 April 2017

Adult onset spinocerebellar ataxia in a Canadian movement disorders clinic

scientific article

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

scientific article published on 20 July 2017

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

scientific article published on 3 August 2016

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

scientific article published in August 2007

"Devolution" of bipedality

scholarly article

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

scientific article published in June 2010

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

scientific article published on 2 February 2008

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

scientific article

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

scientific article published on 22 September 2016

The effect of iron status on vascular health

scientific article

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

scientific article published on April 2016

Mutations in VLDLR associated with ataxia with secondary vitamin E deficiency

scientific article published on June 27, 2013

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

scientific article published in November 2017

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

scientific article published on 11 July 2017

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

scientific article published in October 2007

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

scientific article

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

scientific article published on 19 January 2016

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

scientific article

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

scientific article published on 26 September 2016

Optimizing genotype quality metrics for individual exomes and cohort analysis

scientific article published in October 2012

List of works by Jillian S Parboosingh

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

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

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

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

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

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

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

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

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

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

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

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

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

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.

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

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

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

Intellectual disability associated with a homozygous missense mutation in THOC6

RTTN Mutations Cause Primary Microcephaly and Primordial Dwarfism in Humans

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

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

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

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

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

Adult onset spinocerebellar ataxia in a Canadian movement disorders clinic

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

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

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

"Devolution" of bipedality

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

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

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

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

The effect of iron status on vascular health

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

Mutations in VLDLR associated with ataxia with secondary vitamin E deficiency

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

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

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

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

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

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

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

Optimizing genotype quality metrics for individual exomes and cohort analysis