Publication Newborn screening for severe combined immunodeficiency: Evaluation of a commercial T-cell receptor excision circle-based method in Victorian dried blood spots.
Publication Loss of BIM increases mitochondrial oxygen consumption and lipid oxidation, reduces adiposity and improves insulin sensitivity in mice.
Publication Maternal inheritance of BDNF deletion, with phenotype of obesity and developmental delay in mother and child.
Publication Diagnosis of lethal or prenatal-onset autosomal recessive disorders by parental exome sequencing.
Publication Functional characterization of novel NR5A1 variants reveals multiple complex roles in disorders of sex development.
Publication Exploring approaches to facilitate family communication of genetic risk information after cystic fibrosis population carrier screening.
Publication Parental Expressed Emotion During Two Forms of Family-Based Treatment for Adolescent Anorexia Nervosa.
Publication Differential regulation of two FLNA transcripts explains some of the phenotypic heterogeneity in the loss-of-function filaminopathies.
