List of works - François P. Bernier

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

scientific article

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

scientific journal article

Assessing the Impact of the SOGC Recommendations to Increase Access to prenatal Screening on Overall Use of Health Resources in Pregnancy ⬇️

scientific article published on May 1, 2013

Association between congenital foot anomalies and gestational age at amniocentesis ⬇️

scientific article published on 01 December 2001

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

scientific article

Circulating miRNA Biomarkers for Alzheimer's Disease ⬇️

scientific article published on July 29, 2013

Comparative lipidomics of mouse brain exposed to enriched environment ⬇️

scientific article published on 06 July 2013

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

scientific article published on 05 May 2011

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

scientific article

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

scientific article published on 3 August 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

scientific article published in October 2007

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

scientific article

Distress and Psychosocial Needs of a Heterogeneous High Risk Familial Cancer Population ⬇️

scientific article published on April 21, 2011

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

scientific article

Expansion of phenotype and genotypic data in CRB2-related syndrome

scientific article

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

scientific 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

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

scientific article

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

scientific article published on 01 May 2022

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

scientific article published on 24 October 2012

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

scientific article published on December 27, 2011

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

scientific article published on 9 November 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

scientific article published on 21 March 2013

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

scientific article

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

scientific article

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

scientific article

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

scientific article published in August 2007

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

scientific article

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

scientific article

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

scientific article published on 06 February 2017

Optimizing genotype quality metrics for individual exomes and cohort analysis

scientific article published in October 2012

Possible autosomal recessive inheritance in an infant with acrofacial dysostosis similar to nager syndrome ⬇️

scientific article published on 02 August 2013

RTTN Mutations Cause Primary Microcephaly and Primordial Dwarfism in Humans

scientific article published on 18 November 2015

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

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

scientific article published on 29 March 2015

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

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

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

scientific article published on 7 May 2015

The geneticist's role in adult congenital heart disease

scientific article published on November 2006

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

scientific article published on 26 June 2019

List of works by François P. Bernier

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 ⬇️

Assessing the Impact of the SOGC Recommendations to Increase Access to prenatal Screening on Overall Use of Health Resources in Pregnancy ⬇️

Association between congenital foot anomalies and gestational age at amniocentesis ⬇️

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

Distress and Psychosocial Needs of a Heterogeneous High Risk Familial Cancer Population ⬇️

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

Possible autosomal recessive inheritance in an infant with acrofacial dysostosis similar to nager syndrome ⬇️

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