M. Cadieux-Dion

发表

High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.

François Dubeau, Guillaume Bourque, Ange-Line Bruel, 2017, American journal of human genetics.

Global characterization of copy number variants in epilepsy patients from whole genome sequencing

Jean Monlong, G. Bourque, G. Rouleau, 2018 .

Delayed diagnosis of holocarboxylase synthetase deficiency in three patients with prominent skin findings.

C. Saunders, B. Heese, J. Gannon, 2021, Pediatric dermatology.

De Novo and Inherited Pathogenic Variants in KDM3B Cause Intellectual Disability, Short Stature, and Facial Dysmorphism.

A. V. Vulto-van Silfhout, R. Pfundt, M. Reijnders, 2019, American journal of human genetics.

Deficient histone H3 propionylation by BRPF1-KAT6 complexes in neurodevelopmental disorders and cancer

I. Thiffault, Xiang-Jiao Yang, B. Solomon, 2020, Science Advances.

Phenotypic expansion and variable expressivity in individuals with JARID2‐related intellectual disability: A case series

E. Farrow, C. Saunders, I. Thiffault, 2022, Clinical genetics.

Nager syndrome in patient lacking acrofacial dysostosis: Expanding the phenotypic spectrum of SF3B4‐related disease

Carol J. Saunders, C. Saunders, M. Cadieux-Dion, 2021, American journal of medical genetics. Part A.

Clinical Validation of Genome Reference Consortium Human Build 38 in a Laboratory Utilizing Next-Generation Sequencing Technologies.

Neil A. Miller, Byunggil Yoo, N. Miller, 2022, Clinical chemistry.

Many clinical laboratories performing next-generation sequencing have no future plans to migrate to GRCh38

Lei Zhang, Midhat S. Farooqi, Byunggil Yoo, 2021 .

Recurrent mutations in DNAJC5 cause autosomal dominant Kufs disease

F. Andermann, S. Berkovic, G. Rouleau, 2013, Clinical genetics.

Diagnosis and misdiagnosis of adult neuronal ceroid lipofuscinosis (Kufs disease)

Katherine R. Smith, S. Berkovic, M. Bahlo, 2016, Neurology.

Haploinsufficiency of the Notch Ligand DLL1 Causes Variable Neurodevelopmental Disorders.

D. Horn, X. Wang, C. Saunders, 2019, American journal of human genetics.

On the verge of diagnosis: Detection, reporting, and investigation of de novo variants in novel genes identified by clinical sequencing

Neil A. Miller, E. Farrow, C. Saunders, 2018, Human mutation.

SYN2 is an autism predisposing gene: loss-of-function mutations alter synaptic vesicle cycling and axon outgrowth

F. Benfenati, L. Mottron, F. Valtorta, 2013, Human molecular genetics.

Global characterization of copy number variants in epilepsy patients from whole genome sequencing

Guillaume Bourque, Guy Rouleau, Dan Spiegelman, 2018, PLoS genetics.

Novel heterozygous pathogenic variants in CHUK in a patient with AEC-like phenotype, immune deficiencies and 1q21.1 microdeletion syndrome: a case report

Neil A. Miller, Carol J. Saunders, E. Farrow, 2018, BMC Medical Genetics.

Genome-wide characterization of copy number variants in epilepsy patients

Jean Monlong, G. Bourque, G. Rouleau, 2017, bioRxiv.

Factors affecting migration to GRCh38 in laboratories performing clinical next-generation sequencing.

Neil A. Miller, E. Farrow, C. Saunders, 2021, The Journal of molecular diagnostics : JMD.

Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia.

Stephan J Sanders, Carol J. Saunders, C. Freitag, 2018, American journal of human genetics.

Expanding the clinical phenotype associated with ELOVL4 mutation: study of a large French-Canadian family with autosomal dominant spinocerebellar ataxia and erythrokeratodermia.

G. Rouleau, D. Nguyen, A. Noreau, 2014, JAMA neurology.

Coming up to Speed on Whole Genome Sequencing in Critically Ill Children

E. Farrow, C. Saunders, I. Thiffault, 2018, Advances in Molecular Pathology.

Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy

Vladimir S Fonov, Undiagnosed Diseases Network, C. Saunders, 2022, medRxiv.

P. Cossette, M. Gravel, M. Cadieux-Dion, 2019, Journal of Clinical Immunology.

Autosomal-dominant adult neuronal ceroid lipofuscinosis caused by duplication in DNAJC5 initially missed by Sanger and whole-exome sequencing

F. Andermann, E. Andermann, K. Hodaňová, 2020, European Journal of Human Genetics.

P. Cossette, C. Paradis, M. Gravel, 2019, Journal of Clinical Immunology.

IFT74 variants cause skeletal ciliopathy and motile cilia defects in mice and humans

I. Thiffault, G. Pazour, B. Tüysüz, 2023, PLoS genetics.

IFT74 variants cause skeletal ciliopathy and motile cilia defects in mice and humans

I. Thiffault, G. Pazour, B. Tüysüz, 2023, medRxiv.

Endo-MitoEGFP Mice: A Novel Transgenic Mouse with Fluorescently Marked Mitochondria in Microvascular Endothelial Cells

P. Cossette, A. Prat, Marc-André Lécuyer, 2013, PloS one.

Recurrent mutations in DNAJC5 cause autosomal dominant Kufs disease

F. Andermann, S. Berkovic, G. Rouleau, 2013, Clinical genetics.

High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.

J. Rosenfeld, I. Scheffer, H. Mefford, 2017, American journal of human genetics.