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 The novel RAF1 mutation p.(Gly361Ala) located outside the kinase domain of the CR3 region in two patients with Noonan syndrome, including one with a rare brain tumor.
Publication Examining Practitioner Competencies, Organizational Support and Barriers to Engaging Fathers in Parenting Interventions.
Publication Diagnosis of lethal or prenatal-onset autosomal recessive disorders by parental exome sequencing.
Publication Temporal Lobe Malformations in Achondroplasia: Expanding the Brain Imaging Phenotype Associated withFGFR3-Related Skeletal Dysplasias.
