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Diagnostic yield of targeted next generation sequencing in 2002 Dutch cardiomyopathy patients

A homozygous variant in growth and differentiation factor 2(GDF2)may cause lymphatic dysplasia with hydrothorax and nonimmune hydrops fetalis

De novo variants in CAMTA1 cause a syndrome variably associated with spasticity, ataxia, and intellectual disability

Declining detection rates for APC and biallelic MUTYH variants in polyposis patients, implications for DNA testing policy

The Genetic Epidemiology of Pediatric Pulmonary Arterial Hypertension

An alternative approach to establishing unbiased colorectal cancer risk estimation in Lynch syndrome

GRIN2A-related disorders: genotype and functional consequence predict phenotype

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

Improving the diagnostic yield of exome-sequencing by predicting gene-phenotype associations using large-scale gene expression analysis

PRRT2-related phenotypes in patients with a 16p11.2 deletion

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