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Kern SL, Guevara-Aguirre J, Andrew S, Geng J, Guevara C, Guevara-Aguirre M, Guo M, Oddoux C, Shen Y, Zurita A, Rosenfeld RG, Ostrer H, Hwa V, Dauber A. A novel variant in CDKN1C is associated with intrauterine growth restriction, short stature, and early-adulthood onset diabetes. J Clin Endocrinol Metab. 2014 Oct;99(10):E2117-22.

Feigerlova E, Swinyard M, Andrew SF, Derr MA, Farnsworth J, Rosenfeld RG, Hwa V. A novel GHR intronic variant c.266+83G>T, activates a cryptic 5’ splice site causing severe GHR deficiency and classical GH insensitivity syndrome. Horm Res Paediatr. 2013;80(6):397-405.

Varco-Merth B, Feigerlová E, Shinde U, Rosenfeld RG, Hwa V, Rotwein P. Severe growth deficiency is associated with STAT5b mutations that disrupt protein folding and activity. Mol Endocrinol. 2013 Jan;27(1):150-61.

Dauber A, LaFranchi SH, Maliga Z, Lui JC, Moon JE, McDeed C, Henke K, Zonana J, Kingman GA, Pers TH, Baron J, Rosenfeld RG, Hirschhorn JN, Harris MP, Hwa V. Novel Microcephalic Primordial Dwarfism Disorder Associated with Variants in the Centrosomal Protein Ninein. J Clin Endocrinol Metab. 2012 Nov;97(11):E2140-51.

Scalia PA, Martinez AS, Feigerlova E, Bezrodnik L, Gaillard MI, Di Giovanni D, Ballerini MG, Jasper HG, Heinrich JJ, Fang P, Domené HM, Rosenfeld RG, Hwa V. A novel missense mutation in the SH2 domain of the STAT5B gene results in a transcriptionally inactive STAT5b associated with severe IGF-I deficiency, immune dysfunction, and lack of pulmonary disease. J Clin Endocrinol Metab. 2012 May;97(5):E830-9.

Derr MA, Aisenberg J, Fang P, Tenenbaum-Rakover Y, Rosenfeld RG, Hwa V. The growth hormone receptor (GHR) c.899dupC mutation functions as a dominant negative: insights into the pathophysiology of intracellular GHR defects. J Clin Endocrinol Metab. 2011 Nov;96(11):E1896-904.

Fang P, Kofoed EM, Little BM, Ross RJM, Frank, SJ, Hwa V, Rosenfeld RG. A mutant STAT5b, associated with growth hormone insensitivity and IGF-I deficiency, cannot function as a signal transducer or transcription factor. J Clin Endocrinol Metab. 2006 Apr; 91(4):1526-34.

Hwa V, Little B, Adiyaman P, Kofoed E, Pratt KL, Ocal G, Berberoglu M, Rosenfeld RG. Severe growth hormone insensitivity resulting from total absence of signal transducer and activator of transcription 5b. J Clin Endocrinol Metab. 2005 Jul;90(7):4260-6.

Hwa V, Little B, Kofoed EM, Rosenfeld RG. Transcriptional regulation of insulin-like growth factor-I (IGF-I) by interferon-gamma (IFN-γ) requires STAT-5b. J Biol Chem. 2004 Jan 23;279(4):2728-36.

Kofoed EM*, Hwa V*, Little B, Woods KA, Buckway CK, Tsubaki J, Pratt KL, Bezrodnik L, Jasper H, Tepper A, Heinrich JJ, Rosenfeld RG. Growth hormone insensitivity associated with a STAT5b mutation. N Engl J Med. 2003 Sep 18:349(12):1139-47. *co-first authors