American Journal Of Medical Genetics Part A

Developmental delay and failure to thrive associated with a loss-of-function variant in WHSC1 (NSD2)

Genotype and phenotype correlation in 103 individuals with 2q37 deletion syndrome reveals incomplete penetrance and supports HDAC4 as the primary genetic contributor

Trisomy 13 and 18-Prevalence and mortality-A multi-registry population based analysis

Benign and malignant tumors in Rubinstein-Taybi syndrome

A novel SAMD9 mutation causing MIRAGE syndrome: An expansion and review of phenotype, dysmorphology, and natural history

The expanding phenotype of RNU4ATAC pathogenic variants to Lowry Wood syndrome

A novel homozygous SLC25A1 mutation with impaired mitochondrial complex V: Possible phenotypic expansion

Variable Clinical Manifestations of Xia-Gibbs syndrome: Findings of Consecutively Identified Cases at a Single Children's Hospital

Clinical and cytogenomic findings in OAV spectrum

The ontogeny of Robin sequence