David Skidmore

The clinical application of genome-wide sequencing for monogenic diseases in Canada: Position Statement of the Canadian College of Medical Geneticists

Kym M. Boycott, Taila Hartley, Shelin Adam et al. · Journal of Medical Genetics · 2015 · 228 citations · Full text

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

Allelic Variant, Mendelian Disorder, Genetic Disorder +6

Prenatal Screening for Fetal Aneuploidy in Singleton Pregnancies

David Chitayat, Sylvie Langlois, R. Douglas Wilson et al. · Journal of Obstetrics and Gynaecology Canada · 2011 · 145 citations

Prenatal Genetic Testing, Medicine, Prenatal Genetic Screening +7

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

Sonja A. de Munnik, Louise S. Bicknell, Salim Aftimos et al. · European Journal of Human Genetics · 2012 · 110 citations · Full text

Molecular Diagnosis, Mendelian Disorder, Genetic Disorder +9

Investigation of<i>NRXN1</i>deletions: Clinical and molecular characterization

Mindy Preston Dabell, Jill A. Rosenfeld, Patricia I. Bader et al. · American Journal of Medical Genetics Part A · 2013 · 108 citations · Full text