Publication Diagnosis of lethal or prenatal-onset autosomal recessive disorders by parental exome sequencing.
Publication Differential regulation of two FLNA transcripts explains some of the phenotypic heterogeneity in the loss-of-function filaminopathies.
Publication Evaluation of the SpeeDx ResistancePlus MG Diagnostic Test for Mycoplasma genitalium on the Applied Biosystems 7500 Fast Quantitative PCR Platform.
Publication Exploring approaches to facilitate family communication of genetic risk information after cystic fibrosis population carrier screening.
Publication Functional characterization of novel NR5A1 variants reveals multiple complex roles in disorders of sex development.
