Publications by authors named "Steven Castelein"

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Lessons learned from rapid exome sequencing for 575 critically ill patients across the broad spectrum of rare disease.
Abderrahim Marouane, Kornelia Neveling, A Chantal Deden, Simone van den Heuvel, Dimitra Zafeiropoulou, Steven Castelein

Front Genet· January 2024

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Metabolomics-Based Screening of Inborn Errors of Metabolism: Enhancing Clinical Application with a Robust Computational Pipeline.
Brechtje Hoegen, Alan Zammit, Albert Gerritsen, Udo F H Engelke, Steven Castelein

Metabolites· August 2021

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Diagnostic exome sequencing in 266 Dutch patients with visual impairment.
Lonneke Haer-Wigman, Wendy Ag van Zelst-Stams, Rolph Pfundt, L Ingeborgh van den Born, Caroline Cw Klaver, Steven Castelein

Eur J Hum Genet· May 2017

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BRCA Testing by Single-Molecule Molecular Inversion Probes.
Kornelia Neveling, Arjen R Mensenkamp, Ronny Derks, Michael Kwint, Hicham Ouchene, Steven Castelein

Clin Chem· February 2017

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The diagnostic yield of whole-exome sequencing targeting a gene panel for hearing impairment in The Netherlands.
Celia Zazo Seco, Mieke Wesdorp, Ilse Feenstra, Rolph Pfundt, Jayne Y Hehir-Kwa, Steven Castelein

Eur J Hum Genet· February 2017

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