BS: University of Sydney, Sydney, Australia.
PhD: University of Illinois, Champaign-Urbana, IL.
Endocrinology
Single-cell transcriptomics identifies adipose tissue CD271+ progenitors for enhanced angiogenesis in limb ischemia. Cell Reports Medicine. 2023; 4:101337.
Five-Year Therapy with Recombinant Human Insulin-Like Growth Factor-1 in a Patient with PAPP-A2 Deficiency. Hormone Research in Paediatrics: from developmental endocrinology to clinical research. 2023; 96:449-457.
Single cell transcriptomics identifies adipose tissue CD271+ progenitors for enhanced angiogenesis in limb ischemia. 2023; 4:2023.02.09.527726.
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.