Ellen C. Carbo

Effectiveness of whole-exome sequencing and costs of the traditional diagnostic trajectory in children with intellectual disability

Glen R. Monroe, G. W. J. Frederix, Sanne M. C. Savelberg et al. · Genetics in Medicine · 2016 · 180 citations · Full text

Intellectual Impairment, Genetic Testing, Mendelian Disorder +11

New workflow for classification of genetic variants’ pathogenicity applied to hereditary recurrent fevers by the International Study Group for Systemic Autoinflammatory Diseases (INSAID)

Marielle E van Gijn, Isabella Ceccherini, Yael Shinar et al. · Journal of Medical Genetics · 2018 · 158 citations · Full text

Retrospective Validation of a Metagenomic Sequencing Protocol for Combined Detection of RNA and DNA Viruses Using Respiratory Samples from Pediatric Patients

Sander van Boheemen, Anneloes L. van Rijn, Ellen C. Carbo et al. · Journal of Molecular Diagnostics · 2019 · 82 citations · Full text

Viral Diagnostics, Pediatric Lung Disease, Bioinformatics Analysis +17

Recommendations for the introduction of metagenomic next-generation sequencing in clinical virology, part II: bioinformatic analysis and reporting

Jutte J.C. de Vries, Julianne R. Brown, Natacha Couto et al. · Journal of Clinical Virology · 2021 · 80 citations · Full text

The respiratory virome and exacerbations in patients with chronic obstructive pulmonary disease

Anneloes L. van Rijn, Sander van Boheemen, Igor A. Sidorov et al. · PLoS ONE · 2019 · 69 citations · Full text