Mark E Samuels

Summary

Country: Canada

Publications

  1. pmc Mutation in the gene encoding ubiquitin ligase LRSAM1 in patients with Charcot-Marie-Tooth disease
    Duane L Guernsey
    Department of Pathology, Dalhousie University, Halifax, Nova Scotia, Canada
    PLoS Genet 6:. 2010
  2. pmc Saturation of the human phenome
    Mark E Samuels
    Centre de Recherche de Ste Justine, 3175, Cote Ste Catherine, Montreal QC H3T 1C5, Canada
    Curr Genomics 11:482-99. 2010
  3. pmc Mutations in the UBIAD1 gene, encoding a potential prenyltransferase, are causal for Schnyder crystalline corneal dystrophy
    Andrew Orr
    Department of Ophthalmology and Visual Sciences, Dalhousie University, Halifax, Nova Scotia, Canada
    PLoS ONE 2:e685. 2007
  4. pmc A generalizable pre-clinical research approach for orphan disease therapy
    Chandree L Beaulieu
    Children s Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada
    Orphanet J Rare Dis 7:39. 2012
  5. pmc Compound heterozygosity in sodium channel Nav1.7 in a family with hereditary erythermalgia
    Mark E Samuels
    Département de Médicine, Centre de Recherche du CHUM, Local M 5226, Hopital Notre Dame, 1560 rue Sherbrooke Est, Montreal QC H2L 4M1, Canada
    Mol Pain 4:21. 2008
  6. ncbi Is gene discovery research or diagnosis?
    Mark E Samuels
    Department of Medicine, University of Montreal and Centre de Recherche du CHUM, Montreal, Quebec, Canada
    Genet Med 10:385-90. 2008
  7. ncbi Genetics of cholesterol and lipoprotein metabolism
    Mark E Samuels
    Centre de Recherche du CHUM, Universite de Montreal, Hopital Notre Dame, 1560, rue Sherbrooke Est, Local M 5226, Montreal, QC H2L 4M1, Canada
    Recent Pat Cardiovasc Drug Discov 2:195-204. 2007
  8. pmc Mutation in pyrroline-5-carboxylate reductase 1 gene in families with cutis laxa type 2
    Duane L Guernsey
    Department of Pathology, Dalhousie University, Halifax, Nova Scotia B3H 1X5, Canada
    Am J Hum Genet 85:120-9. 2009
  9. pmc Mutations in a novel serine protease PRSS56 in families with nanophthalmos
    Andrew Orr
    Department of Ophthalmology and Visual Sciences, Dalhousie University, Halifax, Nova Scotia, Canada
    Mol Vis 17:1850-61. 2011
  10. doi Mutations in origin recognition complex gene ORC4 cause Meier-Gorlin syndrome
    Duane L Guernsey
    Department of Pathology, Dalhousie University, Halifax, Nova Scotia, Canada
    Nat Genet 43:360-4. 2011

Collaborators

Detail Information

Publications26

  1. pmc Mutation in the gene encoding ubiquitin ligase LRSAM1 in patients with Charcot-Marie-Tooth disease
    Duane L Guernsey
    Department of Pathology, Dalhousie University, Halifax, Nova Scotia, Canada
    PLoS Genet 6:. 2010
    ..Other ubiquitin ligases play documented roles in neurodegenerative diseases. LRSAM1 is a strong candidate for the causal gene for the genetic disorder in our kindred...
  2. pmc Saturation of the human phenome
    Mark E Samuels
    Centre de Recherche de Ste Justine, 3175, Cote Ste Catherine, Montreal QC H3T 1C5, Canada
    Curr Genomics 11:482-99. 2010
    ..Throughout, emphasis is placed on high penetrance genetic variation, of the kind typically asociated with monogenic versus complex traits...
  3. pmc Mutations in the UBIAD1 gene, encoding a potential prenyltransferase, are causal for Schnyder crystalline corneal dystrophy
    Andrew Orr
    Department of Ophthalmology and Visual Sciences, Dalhousie University, Halifax, Nova Scotia, Canada
    PLoS ONE 2:e685. 2007
    ..UBIAD1 may play a direct role in intracellular cholesterol biochemistry, or may prenylate other proteins regulating cholesterol transport and storage...
  4. pmc A generalizable pre-clinical research approach for orphan disease therapy
    Chandree L Beaulieu
    Children s Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada
    Orphanet J Rare Dis 7:39. 2012
    ..In addition to enabling academic pre-clinical research, strategies such as this may also aid in seeding startup companies, as well as further engaging the pharmaceutical industry in the treatment of rare genetic disease...
  5. pmc Compound heterozygosity in sodium channel Nav1.7 in a family with hereditary erythermalgia
    Mark E Samuels
    Département de Médicine, Centre de Recherche du CHUM, Local M 5226, Hopital Notre Dame, 1560 rue Sherbrooke Est, Montreal QC H2L 4M1, Canada
    Mol Pain 4:21. 2008
    ..This is the second reported study of potential compound heterozygosity for coding polymorphisms in Nav1.7, the first being in a patient with paroxysmal extreme pain disorder...
  6. ncbi Is gene discovery research or diagnosis?
    Mark E Samuels
    Department of Medicine, University of Montreal and Centre de Recherche du CHUM, Montreal, Quebec, Canada
    Genet Med 10:385-90. 2008
    ..Even whole genome resequencing of individual patient DNA is within clinical reach in the foreseeable future...
  7. ncbi Genetics of cholesterol and lipoprotein metabolism
    Mark E Samuels
    Centre de Recherche du CHUM, Universite de Montreal, Hopital Notre Dame, 1560, rue Sherbrooke Est, Local M 5226, Montreal, QC H2L 4M1, Canada
    Recent Pat Cardiovasc Drug Discov 2:195-204. 2007
    ..This article also includes recent patent review coverage...
  8. pmc Mutation in pyrroline-5-carboxylate reductase 1 gene in families with cutis laxa type 2
    Duane L Guernsey
    Department of Pathology, Dalhousie University, Halifax, Nova Scotia B3H 1X5, Canada
    Am J Hum Genet 85:120-9. 2009
    ..Our results support a significant role for proline in normal development...
  9. pmc Mutations in a novel serine protease PRSS56 in families with nanophthalmos
    Andrew Orr
    Department of Ophthalmology and Visual Sciences, Dalhousie University, Halifax, Nova Scotia, Canada
    Mol Vis 17:1850-61. 2011
    ..Identification of additional genes for nanophthalmos will improve our understanding of normal developmental regulation of eye growth...
  10. doi Mutations in origin recognition complex gene ORC4 cause Meier-Gorlin syndrome
    Duane L Guernsey
    Department of Pathology, Dalhousie University, Halifax, Nova Scotia, Canada
    Nat Genet 43:360-4. 2011
    ..This is the first report, to our knowledge, of a germline mutation in any gene of the origin recognition complex in a vertebrate organism...
  11. doi A novel rearrangement of occludin causes brain calcification and renal dysfunction
    Marissa A LeBlanc
    Department of Pathology, Dalhousie University, 5850 College St, Sir Charles Tupper Medical Building, Room 11 F, Halifax, NS, Canada
    Hum Genet 132:1223-34. 2013
    ..Furthermore, the lack of polymicrogyria associated with the rearrangement of OCLN in our patients extends the range of cranial defects that can be observed due to OCLN mutations. ..
  12. pmc Application of homozygosity haplotype analysis to genetic mapping with high-density SNP genotype data
    Haiyan Jiang
    Department of Pathology, Dalhousie University, Halifax, Nova Scotia, Canada
    PLoS ONE 4:e5280. 2009
    ..A novel non-parametric method termed Homozygosity Haplotype (HH) was recently proposed for the genome-wide search of the autosomal segments shared among patients using high density SNP genotype data...
  13. doi Identification and biochemical characterization of a novel mutation in DDX11 causing Warsaw breakage syndrome
    José Mario Capo-Chichi
    Center of Excellence in Neuroscience of Université de Montréal, Centre de recherche du CHU Sainte Justine, Montreal, Canada
    Hum Mutat 34:103-7. 2013
    ..Our findings thus confirm the involvement of DDX11 in WABS, describe its phenotypical spectrum, and provide novel insight into the structural requirement for DDX11 activity...
  14. ncbi Mutant frizzled-4 disrupts retinal angiogenesis in familial exudative vitreoretinopathy
    Johane Robitaille
    Department of Ophthalmology, Izaak Walton Killam IWK Health Centre, Dalhousie University, Halifax, Nova Scotia B3H 2Y9, Canada
    Nat Genet 32:326-30. 2002
    ..In one of the mutants, altered subcellular trafficking led to defective signaling. These findings support a function for frizzled-4 in retinal angiogenesis and establish the first association between a Wnt receptor and human disease...
  15. doi Mutations in mitochondrial carrier family gene SLC25A38 cause nonsyndromic autosomal recessive congenital sideroblastic anemia
    Duane L Guernsey
    Department of Pathology, Dalhousie University Halifax, Nova Scotia, Canada
    Nat Genet 41:651-3. 2009
    ....
  16. pmc Mutations in centrosomal protein CEP152 in primary microcephaly families linked to MCPH4
    Duane L Guernsey
    Department of Pathology, Dalhousie University, Halifax, Nova Scotia B3H 1X5, Canada
    Am J Hum Genet 87:40-51. 2010
    ..Like some other MCPH genes, CEP152 shows signatures of positive selection in the human lineage. CEP152 is a strong candidate for the causal gene underlying MCPH4 and may be an important gene in the evolution of human brain size...
  17. pmc Exome sequencing identifies mutations in the gene TTC7A in French-Canadian cases with hereditary multiple intestinal atresia
    Mark E Samuels
    Centre de recherche du CHU Ste Justine, University of Montreal, Montreal, Quebec, Canada
    J Med Genet 50:324-9. 2013
    ..We had previously ascertained a cohort of patients of French-Canadian origin, most of whom were deceased as infants or in utero. The goal of the study was to identify the molecular basis for the disease in the patients of this cohort...
  18. doi Disruption of TBC1D7, a subunit of the TSC1-TSC2 protein complex, in intellectual disability and megalencephaly
    José Mario Capo-Chichi
    CHU Sainte Justine Research Center, Montreal, Quebec, Canada
    J Med Genet 50:740-4. 2013
    ..Although it has been proposed that mutations in TBC1D7 might also cause TSC, loss of its function has not yet been documented in humans...
  19. pmc Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population
    Myriam Srour
    Centre of Excellence in Neurosciences, Université de Montréal and Sainte Justine Hospital Research Center, Montreal, QC, Canada
    Am J Hum Genet 90:693-700. 2012
    ..Moreover, none of the six putative mutations were detected among 477 French Canadian controls. Our data suggest that mutations in C5ORF42 explain a large portion of French Canadian individuals with JBTS...
  20. pmc De novo mutations in the gene encoding the synaptic scaffolding protein SHANK3 in patients ascertained for schizophrenia
    Julie Gauthier
    Department of Medicine, Centre of Excellence in Neuromics of Université de Montréal, Centre Hospitalier de L Universite de Montreal Research Center, Universite de Montreal, Montreal, QC H2L 2W5, Canada
    Proc Natl Acad Sci U S A 107:7863-8. 2010
    ..As mutations in SHANK3 were previously reported in autism, the occurrence of SHANK3 mutations in subjects with a schizophrenia phenotype suggests a molecular genetic link between these two neurodevelopmental disorders...
  21. doi The case for locus-specific databases
    Mark E Samuels
    Ste Justine Hospital Research Center and Department of Medicine, University of Montreal, 3175 Cote Ste Catherine, Montreal, Quebec, Canada
    Nat Rev Genet 12:378-9. 2011
    ..Locus-specific databases are the most useful repositories of the sequence information underlying medical genetic conditions and, for this reason, they need our continued support...
  22. doi Bioinactive ACTH causing glucocorticoid deficiency
    Mark E Samuels
    Endocrinology Service and Research Center, Centre hospitalier universitaire Sainte Justine, Department of Pediatrics, University of Montreal, Montreal H3T 1C5, Canada
    J Clin Endocrinol Metab 98:736-42. 2013
    ..R8C mutation in the sequence encoding ACTH and α-MSH. The boy was homozygous for the p.R8C mutation...
  23. doi A mutation in the RNF170 gene causes autosomal dominant sensory ataxia
    Paul N Valdmanis
    Centre of Excellence in Neuromics, CHUM Notre Dame Hospital, Department of Medicine, University of Montreal, Canada
    Brain 134:602-7. 2011
    ..Together these results suggest that the mutation in RNF170 is causal for the sensory ataxia in these families...
  24. ncbi A mutation in PCSK9 causing autosomal-dominant hypercholesterolemia in a Utah pedigree
    Kirsten M Timms
    Myriad Genetics, Salt Lake City, UT 84108, USA
    Hum Genet 114:349-53. 2004
    ..This variant results in a D374Y missense change in the gene PCSK9...
  25. ncbi A genome scan for loci influencing anti-atherogenic serum bilirubin levels
    Florian Kronenberg
    Cardiovascular Genetics, University of Utah, Salt Lake City, Utah, USA
    Eur J Hum Genet 10:539-46. 2002
    ..These results provide evidence that loci influencing bilirubin variation exist on chromosomes 2q34-37, 9q21, 10q25-26, and 18q12 and confirms the association of low bilirubin levels with coronary artery disease in males...
  26. pmc Identification of a novel gene (HSN2) causing hereditary sensory and autonomic neuropathy type II through the Study of Canadian Genetic Isolates
    Ronald G Lafreniere
    Xenon Genetics Research, Xenon Genetics Inc, Burnaby, British Columbia V5G 4W8, Canada
    Am J Hum Genet 74:1064-73. 2004
    ..The HSN2 protein may play a role in the development and/or maintenance of peripheral sensory neurons or their supporting Schwann cells...