M. Samuels

发表

Family Based Whole Exome Sequencing Reveals the Multifaceted Role of Notch Signaling in Congenital Heart Disease

P. Awadalla, B. Godard, Christoph Preuss, 2016, PLoS genetics.

Recessive TTN truncating mutations define novel forms of core myopathy with heart disease.

N. Hübner, L. Medne, M. Gautel, 2014, Human molecular genetics.

Mutant frizzled-4 disrupts retinal angiogenesis in familial exudative vitreoretinopathy

M. Hayden, R. Moon, M. Trese, 2002, Nature Genetics.

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

Steven J. M. Jones, S. Scherer, B. Fernandez, 2014, American journal of human genetics.

Mutations in a novel serine protease PRSS56 in families with nanophthalmos

M. Dubé, M. Matsuoka, S. Evans, 2011, Molecular vision.

Mutations in NOTCH2 in families with Hajdu‐Cheney syndrome

Kym M Boycott, Jacek Majewski, Mark E Samuels, 2011, Human mutation.

Mutation in pyrroline-5-carboxylate reductase 1 gene in families with cutis laxa type 2.

M. Dubé, M. Matsuoka, S. Evans, 2009, American journal of human genetics.

Is gene discovery research or diagnosis?

Mark E Samuels, Daryl Pullman, D. Guernsey, 2008, Genetics in Medicine.

Mitochondrial damage and cholesterol storage in human hepatocellular carcinoma cells with silencing of UBIAD1 gene expression

A. Pshezhetsky, Luigi Bruno, C. McMaster, 2014, Molecular Genetics and Metabolism Reports.

Mutations in mitochondrial carrier family gene SLC25A38 cause nonsyndromic autosomal recessive congenital sideroblastic anemia

M. Fleming, M. Matsuoka, S. Evans, 2009, Nature Genetics.

Mutations in centrosomal protein CEP152 in primary microcephaly families linked to MCPH4.

P. Awadalla, M. Matsuoka, S. Evans, 2010, American journal of human genetics.

Evidence of linkage of familial hypoalphalipoproteinemia to a novel locus on chromosome 11q23.

M. Skolnick, D. Ballinger, A. Gutin, 2000, American journal of human genetics.

Genetic variants of frizzled‐4 gene in familial exudative vitreoretinopathy and advanced retinopathy of prematurity

M. Trese, B. Shastry, Y. P. Goldberg, 2005, Clinical genetics.

Ethanol-mediated upregulation of APOA1 gene expression in HepG2 cells is independent of de novo lipid biosynthesis

M. Samuels, Youcef Khodja, 2020, Lipids in Health and Disease.

Germline Mutations in MAP3K6 Are Associated with Familial Gastric Cancer

Marissa A. LeBlanc, D. Huntsman, Weei‐Yuarn Huang, 2014, PLoS genetics.

Genetic localization to chromosome 1p32 of the third locus for familial hypercholesterolemia in a Utah kindred.

M. Skolnick, D. Ballinger, S. Hunt, 2000, Arteriosclerosis, thrombosis, and vascular biology.

A homozygous loss-of-function variant in MYH11 in a case with megacystis-microcolon-intestinal hypoperistalsis syndrome

I. Thiffault, G. Rouleau, F. Hamdan, 2014, European Journal of Human Genetics.

A Point Mutation in a lincRNA Upstream of GDNF Is Associated to a Canine Insensitivity to Pain: A Spontaneous Model for Human Sensory Neuropathies

T. Derrien, Rory Johnson, P. Quignon, 2016, PLoS genetics.

Application of Homozygosity Haplotype Analysis to Genetic Mapping with High-Density SNP Genotype Data

M. Dubé, D. Guernsey, Haiyan Jiang, 2009, PloS one.

Loss of the E3 ubiquitin ligase LRSAM1 sensitizes peripheral axons to degeneration in a mouse model of Charcot-Marie-Tooth disease

R. Burgess, J. Sleigh, M. Samuels, 2013, Disease Models & Mechanisms.

Meier–Gorlin syndrome genotype–phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis

J. Al-Aama, J. Opitz, W. Reardon, 2012, European Journal of Human Genetics.

Bioinactive ACTH causing glucocorticoid deficiency.

J. Majewski, J. Schwartzentruber, C. Deal, 2013, The Journal of clinical endocrinology and metabolism.

Whole-Exome Sequencing in Congenital Hypothyroidism Due to Thyroid Dysgenesis

G. Rouleau, D. Spiegelman, Z. Kibar, 2022, Thyroid : official journal of the American Thyroid Association.

Identification of FAT3 as a new candidate gene for adolescent idiopathic scoliosis

J. Majewski, Simon Papillon-Cavanagh, M. Samuels, 2022, Scientific Reports.

Mutations in HFE2 cause iron overload in chromosome 1q–linked juvenile hemochromatosis

Marie-Pierre Dubé, Elizabeta Nemeth, Tomas Ganz, 2004, Nature Genetics.

New Technologies in Human Genetic Analysis

S. Bowman, M. Dubé, C. Blouin, 2007 .

Mutation in The Nuclear‐Encoded Mitochondrial Isoleucyl–tRNA Synthetase IARS2 in Patients with Cataracts, Growth Hormone Deficiency with Short Stature, Partial Sensorineural Deafness, and Peripheral Neuropathy or with Leigh Syndrome

K. McKernan, E. Shoubridge, F. Sasarman, 2014, Human mutation.

Genetics of the patella

Philippe M. Campeau, M. Samuels, 2019, European Journal of Human Genetics.

Identification and Biochemical Characterization of a Novel Mutation in DDX11 Causing Warsaw Breakage Syndrome

E. Chouery, A. Mégarbané, G. Rouleau, 2013, Human mutation.

Evolution of the patellar sesamoid bone in mammals

J. Hutchinson, M. Samuels, Sophie Regnault, 2017, PeerJ.

Deficiency of Asparagine Synthetase Causes Congenital Microcephaly and a Progressive Form of Encephalopathy

Dipendra K. Aryal, D. Goldstein, J. McNamara, 2013, Neuron.

Genomic Sequence of Canadian Chenopodium berlandieri: A North American Wild Relative of Quinoa

M. Samuels, A. Worley, Sara J. Halwas, 2023, Plants.

Compound heterozygosity in sodium channel Nav1.7 in a family with hereditary erythermalgia

J. Drenth, M. Samuels, R. T. te Morsche, 2008, Molecular pain.

Mutations in the UBIAD1 Gene, Encoding a Potential Prenyltransferase, Are Causal for Schnyder Crystalline Corneal Dystrophy

S. Bowman, M. Dubé, A. Federico, 2007, PloS one.

Phenotypic Overlap of Familial Exudative Vitreoretinopathy (FEVR) with Persistent Fetal Vasculature (PFV) Caused by FZD4 Mutations in two Distinct Pedigrees

D. Guernsey, M. Samuels, J. Robitaille, 2009, Ophthalmic genetics.

Saturation of the Human Phenome

M. Samuels, 2010, Current genomics.

Expanding the Phenotypic Spectrum of Nicotinamide Nucleotide Transhydrogenase (NNT) Mutations and using Whole Exome Sequencing to Discover Potential Disease Modifiers

N. Alirezaie, J. Majewski, J. Schwartzentruber, 2013 .

Definition of an Inflammatory Biomarker Signature in Plasma-Derived Extracellular Vesicles of Glioblastoma Patients

G. Giamas, G. Critchley, M. Samuels, 2022, Biomedicines.

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

Adam P. DeLuca, Matthew S. Lebo, Janeen L Andorf, 2014, Genome Biology.

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

Daniel Nilsson, Peter Szolovits, Karen Eilbeck, 2014, Genome Biology.

De novo mutations in the gene encoding the synaptic scaffolding protein SHANK3 in patients ascertained for schizophrenia

Marie-Pierre Dubé, Christian Néri, Marie-Odile Krebs, 2010, Proceedings of the National Academy of Sciences.

Exome sequencing identifies mutations in the gene TTC7A in French-Canadian cases with hereditary multiple intestinal atresia

P. Awadalla, E. Haddad, F. Casals, 2013, Journal of Medical Genetics.

Mutations in origin recognition complex gene ORC4 cause Meier-Gorlin syndrome

Haiyan Jiang, Mark E Samuels, Makoto Matsuoka, 2011, Nature Genetics.

Loss-of-function genetic diseases and the concept of pharmaceutical targets

M. Dubé, G. Rouleau, M. Samuels, 2007, Nature Reviews Genetics.

Mutations in the nervous system--specific HSN2 exon of WNK1 cause hereditary sensory neuropathy type II.

G. Rouleau, J. Rivière, L. Faivre, 2008, The Journal of clinical investigation.

Identification of a novel gene (HSN2) causing hereditary sensory and autonomic neuropathy type II through the Study of Canadian Genetic Isolates.

M. Hayden, X. Breakefield, B. Brais, 2004, American journal of human genetics.

Müller Cell-Localized GPR81 (HCA1) Regulates Inner Retinal Vasculature via Norrin/Wnt Pathways.

G. Mitchell, J. Rivera, D. Hamel, 2019, The American journal of pathology.

Müller Cell-Localized GPR81 (HCA1) Regulates Inner Retinal Vasculature via Norrin/Wnt Pathways.

G. Mitchell, J. Rivera, D. Hamel, 2019, The American journal of pathology.

Utility of whole‐exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care

B. Fernandez, C. Polychronakos, M. Tarnopolsky, 2015, Clinical genetics.

Genetic Mosaics and the Germ Line Lineage

J. Friedman, M. Samuels, 2015, Genes.

Human monogenic disorders — a source of novel drug targets

Marie-Pierre Dubé, Ryan R. Brinkman, Guy A. Rouleau, 2006, Nature Reviews Genetics.

Novel mutations in the sacsin gene in ataxia patients from Maritime Canada

D. Guernsey, S. Evans, M. Samuels, 2010, Journal of the Neurological Sciences.

Mutations in NFKB2 and potential genetic heterogeneity in patients with DAVID syndrome, having variable endocrine and immune deficiencies

J. Drouin, A. Balsalobre, J. Majewski, 2014, BMC Medical Genetics.

Functional zebrafish studies based on human genotyping point to netrin-1 as a link between aberrant cardiovascular development and thyroid dysgenesis.

G. Andelfinger, V. Désilets, R. Opitz, 2015, Endocrinology.

Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population.

D. Labuda, G. Rouleau, K. Boycott, 2012, American journal of human genetics.

Whole-exome sequencing: opportunities in pediatric endocrinology.

C. Deal, M. Samuels, G. Vliet, 2014, Personalized medicine.

Disruption of TBC1D7, a subunit of the TSC1-TSC2 protein complex, in intellectual disability and megalencephaly

Philippe P Roux, R. Joober, G. Rouleau, 2013, Journal of Medical Genetics.

New Technologies in Pre- and Postnatal Diagnosis

P. Chakraborty, M. Samuels, A. Karalis, 2020 .

Mutation in the Gene Encoding Ubiquitin Ligase LRSAM1 in Patients with Charcot-Marie-Tooth Disease

T. Benstead, M. Matsuoka, S. Evans, 2010, PLoS genetics.

Genetics of the patella

Philippe M. Campeau, M. Samuels, 2019, European Journal of Human Genetics.

Meier–Gorlin syndrome: Growth and secondary sexual development of a microcephalic primordial dwarfism disorder

J. Al-Aama, J. Opitz, W. Reardon, 2012, American journal of medical genetics. Part A.

Reconstituting Immune Surveillance in Breast Cancer: Molecular Pathophysiology and Current Immunotherapy Strategies

G. Giamas, M. Samuels, C. Cilibrasi, 2021, International journal of molecular sciences.

A genome scan for loci influencing anti-atherogenic serum bilirubin levels

F. Kronenberg, H. Coon, D. Ballinger, 2002, European Journal of Human Genetics.

A mutation in PCSK9 causing autosomal-dominant hypercholesterolemia in a Utah pedigree

M. Skolnick, S. Hunt, P. Hopkins, 2004, Human Genetics.

A generalizable pre-clinical research approach for orphan disease therapy

Sean Ekins, Kym M Boycott, Mark E Samuels, 2012, Orphanet Journal of Rare Diseases.

Bone Structural Characteristics and Response to Bisphosphonate Treatment in Children With Hajdu‐Cheney Syndrome

F. Rauch, B. Clarke, M. Samuels, 2015, The Journal of clinical endocrinology and metabolism.

Hajdu–Cheney syndrome: phenotypical progression with de-novo NOTCH2 mutation

K. Rojnueangnit, L. Patry, M. Samuels, 2014, Clinical dysmorphology.

A Replication Study for Association of LBX1 Locus With Adolescent Idiopathic Scoliosis in French–Canadian Population

M. Samuels, C. Julien, A. Moreau, 2018, Spine.

A novel rearrangement of occludin causes brain calcification and renal dysfunction

Marissa A. LeBlanc, C. McMaster, J. Majewski, 2013, Human Genetics.

Association of Circulating YKL-40 Levels and CHI3L1 Variants with the Risk of Spinal Deformity Progression in Adolescent Idiopathic Scoliosis

E. Levy, P. Rompré, J. Kost, 2019, Scientific Reports.

Disruption of CLPB is associated with congenital microcephaly, severe encephalopathy and 3-methylglutaconic aciduria

C. Fallet-Bianco, D. Labuda, E. Brustein, 2015, Journal of Medical Genetics.

Demonstration of Autosomal Monoallelic Expression in Thyroid Tissue Assessed by Whole-Exome and Bulk RNA Sequencing.

T. Pastinen, B. Ge, M. Samuels, 2016, Thyroid : official journal of the American Thyroid Association.

G.P.34 The expanding spectrum of congenital titinopathies

C. Bönnemann, M. Gautel, E. Uro-Coste, 2014, Neuromuscular Disorders.

Somatic Mutations Are Not Observed by Exome Sequencing of Lymphocyte DNA from Monozygotic Twins Discordant for Congenital Hypothyroidism due to Thyroid Dysgenesis

M. Samuels, F. Magne, J. Deladoëy, 2014, Hormone Research in Paediatrics.

A mutation in the RNF170 gene causes autosomal dominant sensory ataxia.

I. Thiffault, B. Brais, G. Rouleau, 2011, Brain : a journal of neurology.

Effects of recombinant insulin‐like growth factor I on craniofacial morphology in growth hormone insensitivity

M. Samuels, A. Cotterill, M. Savage, 1994, Acta paediatrica (Oslo, Norway : 1992). Supplement.

Loss‐of‐function mutations in the Nav1.7 gene underlie congenital indifference to pain in multiple human populations

M. Dubé, D. Bowsher, E. Boltshauser, 2007, Clinical genetics.