Maxime Cadieux-Dion

发表

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

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

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

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

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

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

Genome-wide characterization of copy number variants in epilepsy patients

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

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.

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.

Recurrent mutations in DNAJC5 cause autosomal dominant Kufs disease

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

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.

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

Neil A. Miller, Carol J. Saunders, E. Farrow, 2018, Human mutation.

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.

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

Rebecca C. Spillmann, Thomas M. Durcan, Vladimir S Fonov, 2024, Nature communications.

Variants in CHRNB2 and CHRNA4 Identified in Patients with Insular Epilepsy

A. Becchetti, D. Nguyen, P. Cossette, 2020, Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques.

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.

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.

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.

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.