Mark E. Samuels

Overview

Best Publications

• Mutations in HFE2 cause iron overload in chromosome 1q-linked juvenile hemochromatosis.

  George Papanikolaou;Mark E Samuels;Erwin H Ludwig;Marcia L E MacDonald

  1223
  Citations

• Mutant frizzled-4 disrupts retinal angiogenesis in familial exudative vitreoretinopathy.

  Johane Robitaille;Marcia L E MacDonald;Ajamete Kaykas;Laird C Sheldahl

  549
  Citations

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

  YP Goldberg;J MacFarlane;ML MacDonald;J Thompson

  534
  Citations

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

  Julie Gauthier;Nathalie Champagne;Ronald G. Lafrenière;Lan Xiong

  454
  Citations

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

  Catherine A. Brownstein;Alan H. Beggs;Nils Homer;Barry Merriman

  435
  Citations

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

  S L Sawyer;T Hartley;D A Dyment;C L Beaulieu

  398
  Citations

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

  Kirsten M. Timms;Susanne Wagner;Mark E. Samuels;Kristian Forbey

  395
  Citations

• FORGE Canada Consortium: Outcomes of a 2-Year National Rare-Disease Gene-Discovery Project

  Chandree L. Beaulieu;Jacek Majewski;Jeremy Schwartzentruber;Mark E. Samuels

  279
  Citations

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

  Duane L Guernsey;Haiyan Jiang;Dean R Campagna;Susan C Evans

  265
  Citations

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

  Duane L. Guernsey;Haiyan Jiang;Julie Hussin;Marc Arnold

  235
  Citations

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

  Elizabeth K. Ruzzo;José-Mario Capo-Chichi;Bruria Ben-Zeev;Bruria Ben-Zeev;David Chitayat

  195
  Citations

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

  Duane L Guernsey;Makoto Matsuoka;Haiyan Jiang;Susan Evans

  185
  Citations

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

  C. Chauveau;C.G. Bonnemann;C. Julien;A.L. Kho

  177
  Citations

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

  Ronald G. Lafrenière;Marcia L.E. MacDonald;Marie-Pierre Dubé;Julie MacFarlane

  171
  Citations

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

  Andrew Orr;Marie-Pierre Dubé;Julien Marcadier;Haiyan Jiang

  152
  Citations

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

  Masoud Shekarabi;Nathalie Girard;Jean-Baptiste Rivière;Patrick Dion

  148
  Citations

• Mutations in C5ORF42 Cause Joubert Syndrome in the French Canadian Population

  Myriam Srour;Jeremy Schwartzentruber;Fadi F. Hamdan;Luis H. Ospina

  146
  Citations

• Genetic Localization to Chromosome 1p32 of the Third Locus for Familial Hypercholesterolemia in a Utah Kindred

  Steven C. Hunt;Paul N. Hopkins;Katrina Bulka;Michael T. McDermott

  143
  Citations

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

  Mark E. Samuels;Jacek Majewski;Najmeh Alirezaie;Isabel Fernandez

  134
  Citations

• Mutations in NOTCH2 in families with Hajdu‐Cheney syndrome

  Jacek Majewski;Jeremy A. Schwartzentruber;Aurore Caqueret;Lysanne Patry

  134
  Citations