List of works - Chandree L Beaulieu

A family segregating lethal neonatal coenzyme Q10 deficiency caused by mutations in COQ9.

scientific article published on 20 March 2018

A generalizable pre-clinical research approach for orphan disease therapy

scientific article published on 15 June 2012

A novel NDUFS4 frameshift mutation causes Leigh disease in the Hutterite population

scientific article published on 27 September 2016

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

A novel mutation in two Hmong families broadens the range of STRA6-related malformations to include contractures and camptodactyly

scientific article published on 16 September 2015

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

scientific journal article

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

scientific article

Axons to Exons: the Molecular Diagnosis of Rare Neurological Diseases by Next-Generation Sequencing

scientific article published on September 2015

Clinical and functional characterization of recurrent missense variants implicated in THOC6-related intellectual disability

scientific article published on 01 March 2019

Compound heterozygous mutations in glycyl-tRNA synthetase are a proposed cause of systemic mitochondrial disease

scientific article

Congenital Stationary Night Blindness: Mutation Update and Clinical Variability ⬇️

scientific article published on 01 January 2012

Congenital Visual Impairment and Progressive Microcephaly Due to Lysyl-Transfer Ribonucleic Acid (RNA) Synthetase (KARS) Mutations: The Expanding Phenotype of Aminoacyl-Transfer RNA Synthetase Mutations in Human Disease

scientific article published on 20 October 2014

De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes

scientific article

Exome sequencing as a diagnostic tool for pediatric-onset ataxia

scientific article published in January 2014

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

scientific article

Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly

scientific article

Homozygous nonsense mutation in SYNJ1 associated with intractable epilepsy and tau pathology

scientific article published on 6 September 2014

Identification of genes for childhood heritable diseases

scientific article published on January 2014

Intellectual disability associated with a homozygous missense mutation in THOC6

scientific article

Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly is caused by a duplication in RUNX2.

scientific article published on 3 January 2013

Mutations in PIK3R1 cause SHORT syndrome

scientific article published on 27 June 2013

Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome

scientific article

Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly-capillary malformation syndrome

scientific article

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

scientific article

Mutations in the enzyme glutathione peroxidase 4 cause Sedaghatian-type spondylometaphyseal dysplasia.

scientific article

Next-generation sequencing for diagnosis of rare diseases in the neonatal intensive care unit

scientific article published on 30 May 2016

Novel 25 kb Deletion of MERTK Causes Retinitis Pigmentosa With Severe Progression

scientific article

PhenomeCentral: a portal for phenotypic and genotypic matchmaking of patients with rare genetic diseases

scientific article

Response to correspondence of NDUFS4-related Leigh syndrome in Hutterites.

scientific article

SLC39A8 Deficiency: A Disorder of Manganese Transport and Glycosylation

scientific article

Severe Neonatal Presentation of Mitochondrial Citrate Carrier (SLC25A1) Deficiency

scientific article published on 16 June 2016

Specific combination of compound heterozygous mutations in 17β-hydroxysteroid dehydrogenase type 4 (HSD17B4) defines a new subtype of D-bifunctional protein deficiency

scientific article published on 22 November 2012

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

The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP

scientific article

The utility of exome sequencing for genetic diagnosis in a familial microcephaly epilepsy syndrome

scientific article

Whole exome sequencing identifies the TNNI3K gene as a cause of familial conduction system disease and congenital junctional ectopic tachycardia.

scientific article

Whole-exome sequencing in an individual with severe global developmental delay and intractable epilepsy identifies a novel, de novo GRIN2A mutation.

scientific article

List of works by Chandree L Beaulieu

A family segregating lethal neonatal coenzyme Q10 deficiency caused by mutations in COQ9.

A generalizable pre-clinical research approach for orphan disease therapy

A novel NDUFS4 frameshift mutation causes Leigh disease in the Hutterite population

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

A novel mutation in two Hmong families broadens the range of STRA6-related malformations to include contractures and camptodactyly

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

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

Axons to Exons: the Molecular Diagnosis of Rare Neurological Diseases by Next-Generation Sequencing

Clinical and functional characterization of recurrent missense variants implicated in THOC6-related intellectual disability

Compound heterozygous mutations in glycyl-tRNA synthetase are a proposed cause of systemic mitochondrial disease

Congenital Stationary Night Blindness: Mutation Update and Clinical Variability ⬇️

Congenital Visual Impairment and Progressive Microcephaly Due to Lysyl-Transfer Ribonucleic Acid (RNA) Synthetase (KARS) Mutations: The Expanding Phenotype of Aminoacyl-Transfer RNA Synthetase Mutations in Human Disease

De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes

Exome sequencing as a diagnostic tool for pediatric-onset ataxia

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

Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly

Homozygous nonsense mutation in SYNJ1 associated with intractable epilepsy and tau pathology

Identification of genes for childhood heritable diseases

Intellectual disability associated with a homozygous missense mutation in THOC6

Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly is caused by a duplication in RUNX2.

Mutations in PIK3R1 cause SHORT syndrome

Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome

Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly-capillary malformation syndrome

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

Mutations in the enzyme glutathione peroxidase 4 cause Sedaghatian-type spondylometaphyseal dysplasia.

Next-generation sequencing for diagnosis of rare diseases in the neonatal intensive care unit

Novel 25 kb Deletion of MERTK Causes Retinitis Pigmentosa With Severe Progression

PhenomeCentral: a portal for phenotypic and genotypic matchmaking of patients with rare genetic diseases

Response to correspondence of NDUFS4-related Leigh syndrome in Hutterites.

SLC39A8 Deficiency: A Disorder of Manganese Transport and Glycosylation

Severe Neonatal Presentation of Mitochondrial Citrate Carrier (SLC25A1) Deficiency

Specific combination of compound heterozygous mutations in 17β-hydroxysteroid dehydrogenase type 4 (HSD17B4) defines a new subtype of D-bifunctional protein deficiency

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 phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP

The utility of exome sequencing for genetic diagnosis in a familial microcephaly epilepsy syndrome

Whole exome sequencing identifies the TNNI3K gene as a cause of familial conduction system disease and congenital junctional ectopic tachycardia.

Whole-exome sequencing in an individual with severe global developmental delay and intractable epilepsy identifies a novel, de novo GRIN2A mutation.