Mark E. Samuels

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 et al. · Genome biology · 2014 · 432 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

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

Chandree L. Beaulieu, Jacek Majewski, Jeremy Schwartzentruber et al. · The American Journal of Human Genetics · 2014 · 250 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Mutations in Centrosomal Protein CEP152 in Primary Microcephaly Families Linked to MCPH4

Duane L. Guernsey, Haiyan Jiang, Julie Hussin et al. · The American Journal of Human Genetics · 2010 · 196 citations · Full text

Life Sciences, Genetics, Molecular Genetics +8

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

Claire Chauveau, Carsten G. Bönnemann, Cédric Julien et al. · Human Molecular Genetics · 2013 · 191 citations · Full text

Medicine, Cardiology, Genetics +17

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

Duane L. Guernsey, Makoto Matsuoka, Haiyan Jiang et al. · Nature Genetics · 2011 · 171 citations

Life Sciences, Genetics, Molecular Genetics +5