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How to find us J. el Mecky, MSc

Publications

A prospective study on rapid exome sequencing as a diagnostic test for multiple congenital anomalies on fetal ultrasound

Parental experiences of rapid Exome Sequencing in case of serious ultrasound abnormalities during pregnancy

Clinical implementation of diagnostic whole exome sequencing for fetal multiple congenital anomalies on ultrasound

Disclosure of incidental findings (IFs) and variants of uncertain significance (VUS) to patients: what happens in practice?

Implementing fast whole exome sequencing sequencing as diagnostic test for fetal multiple congenital anomalies on ultrasound

Reinterpretation and reclassification in diagnostic Next-Generation Sequencing: current daily practices and dilemmas of Dutch clinical genomics laboratory professionals

Reinterpretation, reclassification, and its downstream effects: challenges for clinical laboratory geneticists

Support needs of caregivers of patients with amyotrophic lateral sclerosis: A qualitative study

Recontact about clinically significant variant reclassifications in cardiogenetics; patient experiences

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