Graham Sinclair

Exome Sequencing and the Management of Neurometabolic Disorders.

Andrea Superti-Furga, Rupasri Mandal, Wyeth W Wasserman, 2016, The New England journal of medicine.

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

Gary L Hoffman, Alicia Roberts, Stephen M Downs, 2011, Genetics in Medicine.

Enhanced interpretation of newborn screening results without analyte cutoff values

Vagelis Papakonstantinou, Giuseppe Giordano, Yin-Hsiu Chien, 2012, Genetics in Medicine.

Detection of a novel intragenic rearrangement in the creatine transporter gene by next generation sequencing.

Victor Wei Zhang, Hui Yu, Clara van Karnebeek, 2013, Molecular genetics and metabolism.

Optic atrophy, cataracts, lipodystrophy/lipoatrophy, and peripheral neuropathy caused by a de novo OPA3 mutation

Wyeth W. Wasserman, Scott A. Lear, Casper Shyr, 2017, Cold Spring Harbor molecular case studies.

Health economic evaluation of plasma oxysterol screening in the diagnosis of Niemann-Pick Type C disease among intellectually disabled using discrete event simulation.

Carlo Marra, Sylvia Stockler, Clara D M van Karnebeek, 2015, Molecular genetics and metabolism.