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Journal of Inherited Metabolic Disease|February 18, 2018
Next-generation metabolic screening: targeted and untargeted metabolomics for the diagnosis of inborn errors of metabolism in individual patientsKarlien L M Coene, Leo A J Kluijtmans, Ed van der Heeft, et al.Journal of Inherited Metabolic Disease|September 11, 2022
Novel cerebrospinal fluid biomarkers of glucose transporter type 1 deficiency syndrome: Implications beyond the brain's energy deficitTessa M A Peters, Jona Merx, Pieter C Kooijman, et al.Journal of Inherited Metabolic Disease|May 4, 2022
How to proceed after "negative" exome: A review on genetic diagnostics, limitations, challenges, and emerging new multiomics techniquesSaskia B Wortmann, Machteld M Oud, Mariëlle Alders, et al.Sensors (Basel, Switzerland)|February 7, 2018
Foil Strain Gauges Using Piezoresistive Carbon Nanotube Yarn: Fabrication and CalibrationJandro L Abot, Mário R Góngora-Rubio, Jude C Anike, et al.Frontiers in Neurology|June 24, 2021
NANS-CDG: Delineation of the Genetic, Biochemical, and Clinical SpectrumBibiche den Hollander, Anne Rasing, Merel A Post, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 9, 2022
Diagnosing, discarding, or de-VUSsing: A practical guide to (un)targeted metabolomics as variant-transcending functional testsElise A Ferreira, Annemarijne R J Veenvliet, Udo F H Engelke, et al.Nature Genetics|May 10, 2011
KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromesAudrey Putoux, Sophie Thomas, Karlien L M Coene, et al.American Journal of Human Genetics|October 28, 2008
CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290Nicholas T Gorden, Heleen H Arts, Melissa A Parisi, et al.Nature Communications|May 14, 2016
An organelle-specific protein landscape identifies novel diseases and molecular mechanismsKarsten Boldt, Jeroen van Reeuwijk, Qianhao Lu, et al.Nature Genetics|September 14, 2010
Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathyEdgar A Otto, Toby W Hurd, Rannar Airik, et al.Pageof 17