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The effects of an online decision aid to support the reproductive decision-making process of genetically at risk couples-A pilot study

The phenotypic spectrum of terminal 6q deletions based on a large cohort derived from social media and literature: a prominent role for DLL1

De novo DHDDS variants cause a neurodevelopmental and neurodegenerative disorder with myoclonus

Parental experiences of rapid exome sequencing in cases with major ultrasound anomalies during pregnancy

CFTR analysis should not be offered to all patients with unexplained azoospermia in the presence of normal gonadotropin levels

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

Lessons learned from rapid Exome Sequencing(rES)as a standard diagnostic test in a prenatal setting for fetuses with ultrasound abnormalities.

Maternal occupational exposure and congenital heart defects in offspring

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

Phenotype-genotype analysis in a large cohort of 250 individuals with a chromosome 6q deletion

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