Mark E. Samuels

Mark E. Samuels publication distribution in Molecular Biology in 2026

The chart shows the distribution of publications by all Research.com ranked scientists in the field of Molecular Biology in 2026. The highlighted bar marks where Mark E. Samuels sits on this spectrum.

Mark E. Samuels D-index placement in Molecular Biology in 2026

The chart shows the D-index (discipline H-index) distribution of Molecular Biology scientists ranked by Research.com in 2026. The highlighted bar marks where Mark E. Samuels sits on this spectrum.

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