Hilary Vallance

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

Exome Sequencing and the Management of Neurometabolic Disorders

Maja Tarailo‐Graovac, Casper Shyr, Colin J.D. Ross et al. · New England Journal of Medicine · 2016 · 274 citations · Full text

<i>IDH2</i> Mutations in Patients with <scp>d</scp> -2-Hydroxyglutaric Aciduria

Martijn Kranendijk, Eduard A. Struys, Emile Van Schaftingen et al. · Science · 2010 · 192 citations

Urology, Somatic Variant, Aldehyde Dehydrogenase +15

Clinical and molecular features of mitochondrial DNA depletion due to mutations in deoxyguanosine kinase

David Dimmock, Q. Zhang, Carlo Dionisi‐Vici et al. · Human Mutation · 2008 · 167 citations · Full text

Deoxyguanosine Kinase, Dna Damage, Genetics +18