James McGill

Mutations in ENPP1 are associated with 'idiopathic' infantile arterial calcification

Frank Rutsch, Nico Ruf, Sucheta M. Vaingankar et al. · Nature Genetics · 2003 · 592 citations

Developmental Biology, Genetics, Pathology +7

Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: A worldwide collaborative project

David McHugh, Cynthia A. Cameron, José E. Abdenur et al. · Genetics in Medicine · 2011 · 349 citations · Full text

Metabolic Syndrome, Newborn Screening, Metabolic Disorder +10

Mitochondrial DNA mutations at nucleotide 8993 show a lack of tissue‐ or age‐related variation

S. L. White, Sara Shanske, James McGill et al. · Journal of Inherited Metabolic Disease · 1999 · 111 citations

Clonal lines of aneuploid cells in Rothmund‐Thomson syndrome

Vazken M. Der Kaloustian, James McGill, Michel Vekemans et al. · American Journal of Medical Genetics · 1990 · 69 citations

Development in children with achondroplasia: a prospective clinical cohort study

Penelope J. Ireland, Samantha Donaghey, James McGill et al. · Developmental Medicine & Child Neurology · 2012 · 68 citations