BS: University of Sydney, Sydney, Australia.
PhD: University of Illinois, Champaign-Urbana, IL.
Atypical STAT5B deficiency, severe short stature and mild immunodeficiency associated with a novel homozygous STAT5B Variant. Molecular and Cellular Endocrinology. 2023; 559:111799.
En masse organoid phenotyping informs metabolic-associated genetic susceptibility to NASH. Cell. 2022; 185:4216-4232.e16.
Understanding the molecular basis of short stature in six patients with pathogenic variants in HMGA2. 2022.
Defects in QSOX2, a novel regulator of STAT5B nuclear import and transcriptional activity, lead to severe post-natal growth restriction. 2022.
Characterisation of the first heterozygous missense HMGA2 variant helps delineate the crucial functional roles of a novel growth gene. 2022.
A rare heterozygous IGFI variant impairing IGF-I cleavage and causing postnatal growth failure: a novel disease mechanism offering insights into IGF-I physiology. 2022.
STAT5B restrains human B-cell differentiation to maintain humoral immune homeostasis. Journal of Allergy and Clinical Immunology. 2022; 150:931-946.
Signal Transducer and Activator of Transcription 5B Deficiency-associated Lung Disease. American Journal of Respiratory and Critical Care Medicine. 2022; 205:1245-1250.
Treatment of Short Stature in Aggrecan-deficient Patients With Recombinant Human Growth Hormone: 1-Year Response. Journal of Clinical Endocrinology and Metabolism. 2022; 107:e2103-e2109.