Hwa Lab

Cottrell, E; Cabrera, CP; Ishida, M; Chatterjee, S; Greening, J; Wright, N; Bossowski, A; Dunkel, L; Deeb, A; Basiri, IA; et al. Rare CNVs provide novel insights into the molecular basis of GH and IGF-1 insensitivity. European Journal of Endocrinology. 2020; 183:581-595.

Abell, K; Tolusso, L; Smith, N; Hopkin, R; Vawter-Lee, M; Habli, M; Riddle, S; Calvo-Garcia, MA; Guan, Q; Bierbrauer, K; et al. Prenatal diagnosis of Proteus syndrome: Diagnosis of an AKT1 mutation from amniocytes. Birth Defects Research. 2020; 112:1733-1737.

Rughani, A; Zhang, D; Vairamani, K; Dauber, A; Hwa, V; Krishnan, S. Severe growth failure associated with a novel heterozygous nonsense mutation in the GHR transmembrane domain leading to elevated growth hormone binding protein. Clinical Endocrinology. 2020; 92:331-337.

Fujimoto, M; Khoury, JC; Khoury, PR; Kalra, B; Kumar, A; Sluss, P; Oxvig, C; Hwa, V; Dauber, A. Anthropometric and biochemical correlates of PAPP-A2, free IGF-I, and IGFBP-3 in childhood. European Journal of Endocrinology. 2020; 182:363-374.

Cabrera-Salcedo, C; Hawkes, CP; Tyzinski, L; Andrew, M; Labilloy, G; Campos, D; Feld, A; Deodati, A; Hwa, V; Hirschhorn, JN; et al. Targeted Searches of the Electronic Health Record and Genomics Identify an Etiology in Three Patients with Short Stature and High IGF-I Levels. Hormone Research in Paediatrics: from developmental endocrinology to clinical research. 2020; 92:186-195.

Shapiro, MR; Foster, TP; Perry, DJ; Rosenfeld, RG; Dauber, A; McNichols, JA; Muir, A; Hwa, V; Brusko, TM; Jacobsen, LM. A Novel Mutation in Insulin-Like Growth Factor 1 Receptor (c.641-2A>G) Is Associated with Impaired Growth, Hypoglycemia, and Modified Immune Phenotypes. Hormone Research in Paediatrics: from developmental endocrinology to clinical research. 2020; 93:322-334.

Poyrazoglu, S; Hwa, V; Bas, F; Dauber, A; Rosenfeld, R; Darendeliler, F. A novel homozygous mutation of the acid-labile subunit (IGFALS) gene in a male adolescent. JCRPE Journal of Clinical Research in Pediatric Endocrinology. 2019; 11:432-438.

Fujimoto, M; Andrew, M; Liao, L; Zhang, D; Yildirim, G; Sluss, P; Kalra, B; Kumar, A; Yakar, S; Hwa, V; et al. Low IGF-I Bioavailability Impairs Growth and Glucose Metabolism in a Mouse Model of Human PAPPA2 p.Ala1033Val Mutation. Endocrinology. 2019; 160:1363-1376.

Akinci, A; Karakurt, C; Hwa, V; Dundar, I; Camtosun, E. Laron syndrome related to homozygous growth hormone receptor c.784 > C mutation in a patient with hypoplastic pulmonary arteries. South African Medical Journal. 2019; 30:e7-e8.

Diets, IJ; van der Donk, R; Baltrunaite, K; Waanders, E; Reijnders, MR F; Dingemans, AJ M; Pfundt, R; Vulto-van Silfhout, AT; Wiel, L; Gilissen, C; et al. De Novo and Inherited Pathogenic Variants in KDM3B Cause Intellectual Disability, Short Stature, and Facial Dysmorphism. The American Journal of Human Genetics. 2019; 104:758-766.

Storr, HL; Chatterjee, S; Metherell, LA; Foley, C; Rosenfeld, RG; Backeljauw, PF; Dauber, A; Savage, MO; Hwa, V. Nonclassical GH Insensitivity: Characterization of Mild Abnormalities of GH Action. Endocrine Reviews. 2019; 40:476-505.

Heyn, P; Logan, CV; Fluteau, A; Challis, RC; Auchynnikava, T; Martin, C; Marsh, JA; Taglini, F; Kilanowski, F; Parry, DA; et al. Gain-of-function DNMT3A mutations cause microcephalic dwarfism and hypermethylation of Polycomb-regulated regions. Nature Genetics. 2019; 51:96-105.

Klammt, J; Neumann, D; Gevers, EF; Andrew, SF; Schwartz, ID; Rockstroh, D; Colombo, R; Sanchez, MA; Vokurkova, D; Kowalczyk, J; et al. Dominant-negative STAT5B mutations cause growth hormone insensitivity with short stature and mild immune dysregulation. Nature Communications. 2018; 9.

Gutierrez, M; Scaglia, P; Keselman, A; Martucci, L; Karabatas, L; Domene, S; Martin, A; Pennisi, P; Blanco, M; Sanguineti, N; et al. Partial growth hormone insensitivity and dysregulatory immune disease associated with de novo germline activating STAT3 mutations. Molecular and Cellular Endocrinology. 2018; 473:166-177.

Andrew, M; Liao, L; Fujimoto, M; Khoury, J; Hwa, V; Dauber, A. PAPPA2 as a therapeutic modulator of IGF-I bioavailability: In vivo and in vitro evidence. Journal of the Endocrine Society. 2018; 2:646-656.

Kim, A; Fujimoto, M; Hwa, V; Backeljauw, P; Dauber, A. Adrenal Insufficiency, Sex Reversal, and Angelman Syndrome due to Uniparental Disomy Unmasking a Mutation in CYP11A1. Hormone Research in Paediatrics: from developmental endocrinology to clinical research. 2018; 89:205-210.

Savage, MO; Chatterjee, S; Hwa, V; Storr, HL. Growth hormone insensitivity. Encyclopedia of Endocrine Diseases. : Elsevier; Elsevier; 2018.

Fujimoto, M; Hwa, V; Dauber, A. Novel Modulators of the Growth Hormone - Insulin-Like Growth Factor Axis: Pregnancy-Associated Plasma Protein-A2 and Stanniocalcin-2. JCRPE Journal of Clinical Research in Pediatric Endocrinology. 2017; 9:1-8.

Cabrera-Salcedo, C; Shah, AS; Andrew, M; Tyzinski, L; Hwa, V; Gutmark-Little, I; Backeljauw, P; Dauber, A. Isolated growth hormone deficiency due to the R183H mutation in GH1: Clinical analysis of a four-generation family. Clinical Endocrinology. 2017; 87:874-876.

Cabrera-Salcedo, C; Mizuno, T; Tyzinski, L; Andrew, M; Vinks, AA; Frystyk, J; Wasserman, H; Gordon, CM; Hwa, V; Backeljauw, P; et al. Pharmacokinetics of IGF-1 in PAPP-A2-Deficient Patients, Growth Response, and Effects on Glucose and Bone Density. Journal of Clinical Endocrinology and Metabolism. 2017; 102:4568-4577.

Liao, L; Gan, H; Hwa, V; Dattani, M; Dauber, A. Two Siblings with a Mutation in CCDC8 Presenting with Mild Short Stature: A Case of 3-M Syndrome. Hormone Research in Paediatrics: from developmental endocrinology to clinical research. 2017; 88:364-370.

Ocaranza, P; Golekoh, MC; Andrew, SF; Guo, MH; Kaplowitz, P; Saal, H; Rosenfeld, RG; Dauber, A; Cassorla, F; Backeljauw, PF; et al. Expanding Genetic and Functional Diagnoses of IGF1R Haploinsufficiencies. Hormone Research in Paediatrics: from developmental endocrinology to clinical research. 2017; 87:412-422.

Rosenfeld, RG; Hwa, V. Biology of the somatotroph axis (after the pituitary). Annales d'Endocrinologie. 2017; 78:80-82.

Vairamani, K; Merjaneh, L; Casano-Sancho, P; Sanli, ME; David, A; Metherell, LA; Savage, MO; Sanchez del Pozo, J; Backeljauw, PF; Rosenfeld, RG; et al. Novel dominant-negative GH receptor mutations expands the spectrum of GHI and IGF-I deficiency. Journal of the Endocrine Society. 2017; 1:345-358.

Cabrera-Salcedo, C; Kumar, P; Hwa, V; Dauber, A. IMAGe and Related Undergrowth Syndromes: The Complex Spectrum of Gain-of -Function CDKN1C Mutations. Pediatric Endocrinology Reviews PER. 2017; 14:289-297.

Cabrera-Salcedo, C; Kumar, P; Hwa, V; Dauber, A. Image and related undergrowth syndromes: The complex spectrum of gain-of-function CDKN1C mutations. Pediatric Endocrinology Reviews PER. 2017; 14:289-297.

Gkourogianni, A; Andrew, M; Tyzinski, L; Crocker, M; Douglas, J; Dunbar, N; Fairchild, J; Funari, MF A; Heath, KE; Jorge, AA L; et al. Clinical Characterization of Patients With Autosomal Dominant Short Stature due to Aggrecan Mutations. Journal of Clinical Endocrinology and Metabolism. 2017; 102:460-469.

de Bruin, C; Finlayson, C; Funari, MF A; Vasques, GA; Freire, BL; Lerario, AM; Andrew, M; Hwa, V; Dauber, A; Jorge, AA L. Two Patients with Severe Short Stature due to a FBN1 Mutation (p.Ala1728Val) with a Mild Form of Acromicric Dysplasia. Hormone Research in Paediatrics: from developmental endocrinology to clinical research. 2016; 86:342-348.

Boyle, L; Wamelink, MM C; Salomons, GS; Roos, B; Pop, A; Dauber, A; Hwa, V; Andrew, M; Douglas, J; Feingold, M; et al. Mutations in TKT Are the Cause of a Syndrome Including Short Stature, Developmental Delay, and Congenital Heart Defects. The American Journal of Human Genetics. 2016; 98:1235-1242.

Hwa, V. STAT5B deficiency: Impacts on human growth and immunity. Growth Hormone and IGF Research. 2016; 28:16-20.

de Bruin, C; Orbak, Z; Andrew, M; Hwa, V; Dauber, A. Severe Short Stature in Two Siblings as the Presenting Sign of ACP5 Deficiency. Hormone Research in Paediatrics: from developmental endocrinology to clinical research. 2016; 85:358-362.

Dauber, A; Munoz-Calvo, MT; Barrios, V; Domene, HM; Kloverpris, S; Serra-Juhe, C; Desikan, V; Pozo, J; Muzumdar, R; Martos-Moreno, GA; et al. Mutations in pregnancy-associated plasma protein A2 cause short stature due to low IGF-I availability. EMBO Molecular Medicine. 2016; 8:363-374.

Hershkovitz, O; Bar-Ilan, A; Guy, R; Felikman, Y; Moschcovich, L; Hwa, V; Rosenfeld, RG; Fima, E; Hart, G. In Vitro and in Vivo Characterization of MOD-4023, a Long-Acting Carboxy-Terminal Peptide (CTP)-Modified Human Growth Hormone. Molecular Pharmaceutics. 2016; 13:631-639.