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Publications

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

Rapid whole exome sequencing in pregnancies to identify the underlying genetic cause in fetuses with congenital anomalies detected by ultrasound imaging

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

Cohesin complex-associated holoprosencephaly

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

Phenotype genotype analysis in a large cohort of 85 individuals with a terminal 6q deletion

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