Vivian Hwa, PhD

Single cell transcriptomics identifies adipose tissue CD271+ progenitors for enhanced angiogenesis in limb ischemia. Inoue, O; Goten, C; Hashimuko, D; Yamaguchi, K; Takeda, Y; Nomura, A; Ootsuji, H; Takashima, S; Iino, K; Takemura, H; et al. 2023; 4:2023.02.09.527726.

Atypical STAT5B deficiency, severe short stature and mild immunodeficiency associated with a novel homozygous STAT5B Variant. Catli, G; Gao, W; Foley, C; Özyilmaz, B; Edeer, N; Diniz, G; Losekoot, M; van Doorn, J; Dauber, A; Dundar, BN; et al. Molecular and Cellular Endocrinology. 2023; 559:111799.

En masse organoid phenotyping informs metabolic-associated genetic susceptibility to NASH. Kimura, M; Iguchi, T; Iwasawa, K; Dunn, A; Thompson, WL; Yoneyama, Y; Chaturvedi, P; Zorn, AM; Wintzinger, M; Quattrocelli, M; et al. Cell. 2022; 185:4216-4232.e16.

Understanding the molecular basis of short stature in six patients with pathogenic variants in HMGA2. Maharaj, A; Cottrell, E; van, DH; de, BC; Joustra, S; Kant, S; van, dK D; Inmaculada, CD C L M; Massoud, A; Metherell, L; et al. 2022.

Defects in QSOX2, a novel regulator of STAT5B nuclear import and transcriptional activity, lead to severe post-natal growth restriction. Maharaj, A; Andrews, A; Chatterjee, S; Hwa, V; Storr, H. 2022.

Characterisation of the first heterozygous missense HMGA2 variant helps delineate the crucial functional roles of a novel growth gene. Cottrell, E; Maharaj, A; Triggs-Raine, B; Thanasupawat, T; Williams, J; Fujimoto, M; A., VD H; De, BC; Joustra, S; Kant, S; et al. 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. Cottrell, E; Andrews, A; Williams, J; Chatterjee, S; Edate, S; Metherell, LA; Hwa, V; Storr, HL. 2022.

STAT5B restrains human B-cell differentiation to maintain humoral immune homeostasis. Pelham, SJ; Caldirola, MS; Avery, DT; Mackie, J; Rao, G; Gothe, F; Peters, TJ; Guerin, A; Neumann, D; Vokurkova, D; et al. Journal of Allergy and Clinical Immunology. 2022; 150:931-946.

Signal Transducer and Activator of Transcription 5B Deficiency-associated Lung Disease. Krone, KA; Foley, CL; Fishman, MP; Vargas, SO; Forbes, LR; Vece, TJ; Al-Herz, W; Carey, B; Pai, SY; Hwa, V; et al. 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. Muthuvel, G; Dauber, A; Alexandrou, E; Tyzinski, L; Andrew, M; Hwa, V; Backeljauw, P. Journal of Clinical Endocrinology and Metabolism. 2022; 107:e2103-e2109.