Hwa Lab

Cottrell, E; Maharaj, A; Williams, J; Chatterjee, S; Cirillo, G; Miraglia Del Giudice, E; Festa, A; Palumbo, S; Capalbo, D; Salerno, M; et al. Growth Hormone Receptor (Ghr) 6ω Pseudoexon Activation: A Novel Cause Of Severe Growth Hormone Insensitivity (Ghi). Journal of Clinical Endocrinology and Metabolism. 2021.

Cottrell, E; Maharaj, A; Williams, J; Chatterjee, S; Cirillo, G; Miraglia Del Giudice, E; Festa, A; Palumbo, S; Capalbo, D; Salerno, M; et al. Growth Hormone Receptor (GHR) 6Ω Pseudoexon Activation: a Novel Cause of Severe Growth Hormone Insensitivity. Journal of Clinical Endocrinology and Metabolism. 2021.

Cottrell, E; Chatterjee, S; Hwa, V; Storr, HL. A rare heterozygous IGFI variant causing postnatal growth failure and offering novel insights into IGF-I physiology. 2021.

Hwa, V; Fujimoto, M; Zhu, G; Gao, W; Foley, C; Kumbaji, M; Rosenfeld, RG. Genetic causes of growth hormone insensitivity beyond GHR. Reviews in Endocrine and Metabolic Disorders. 2021; 22:43-58.

Foley, CL; Al Remeithi, SS; Towe, CT; Dauber, A; Backeljauw, PF; Tyzinski, L; Kumar, AR; Hwa, V. Developmental Adaptive Immune Defects Associated with STAT5B Deficiency in Three Young Siblings. Journal of Clinical Immunology. 2021; 41:136-146.

Hwa, V. Human growth disorders associated with impaired GH action: Defects in STAT5B and JAK2. Molecular and Cellular Endocrinology. 2021; 519.

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.

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. 2020; 93:322-334.

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. 2020; 92:186-195.

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.

Cottrell, E; Maharaj, A; Ladha, T; Chatterjee, S; Grandone, A; Cirillo, G; del, GE M; Kostalova, L; Vitariusova, E; Hwa, V; et al. Three novel Growth Hormone Receptor (GHR) splicing mutations causing a spectrum of Growth Hormone Insensitivity. 2019.

M, F; M, A; L, L; D, Z; G, Y; P, S; B, K; A, K; S, Y; V, H; et al. Low IGF-I bioavailability impairs growth and glucose metabolism in a mouse model of human PAPPA2 p.Ala1033Val mutation. 2019.

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. Cardiovascular Journal of Southern Africa. 2019; 30:e7-e8.

Fujimoto, M; Khoury, J; Khoury, P; Kalra, B; Kumar, A; Sluss, P; Oxvig, C; Hwa, V; Dauber, A. OR07-5 A Cross-Sectional Study of IGF-I Bioavailability through Childhood: Associations with PAPP-A2 and Anthropometric Data. Journal of the Endocrine Society. 2019; 3:or07-or05.

Cabrera Salcedo, C; Labilloy, G; Andrew, S; Hwa, V; Tyzinski, L; Grimberg, A; Hawkes, C; Hirschhorn, J; Dauber, A. OR07-6 Integrating Targeted Bioinformatic Searches of the Electronic Health Records and Genomic Testing Identifies a Molecular Diagnosis in Three Patients with Undiagnosed Short Stature. Journal of the Endocrine Society. 2019; 3:or07-or06.

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. 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. Recent Progress in Hormone Research. 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.

M, G; P, S; A, K; L, M; L, K; S, D; A, M; P, P; M, B; N, S; et al. Partial growth hormone insensitivity and dysregulatory immune disease associated with de novo germline activating STAT3 mutations. 2018.

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. 2018; 89:205-210.

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. 2018; 9:1-8.

Savage, MO; Chatterjee, S; Hwa, V; Storr, HL. Growth Hormone Insensitivity☆. Encyclopedia of Endocrine Diseases. 2018.

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. 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. 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. 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.