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.
Clinical phenotype and musculoskeletal characteristics of patients with aggrecan deficiency.
Alexandrou, E; Dauber, A; Tyzinski, L; Hwa, V; Andrew, M; Kim, H; Elangovan, S; Gubanich, P; Taylor-Haas, JA; Paterno, M; et al.
American Journal of Medical Genetics, Part A.
2022;
188:1193-1203.
Growth Hormone Receptor (Ghr) 6ω Pseudoexon Activation: A Novel Cause Of Severe Growth Hormone Insensitivity (Ghi).
Cottrell, E; Maharaj, A; Williams, J; Chatterjee, S; Cirillo, G; Miraglia Del Giudice, E; Festa, A; Palumbo, S; Capalbo, D; Salerno, M; et al.
Journal of Clinical Endocrinology and Metabolism.
2022.
Growth Hormone Receptor (GHR) 6Ω Pseudoexon Activation: a Novel Cause of Severe Growth Hormone Insensitivity.
Cottrell, E; Maharaj, A; Williams, J; Chatterjee, S; Cirillo, G; Miraglia Del Giudice, E; Festa, A; Palumbo, S; Capalbo, D; Salerno, M; et al.
Journal of Clinical Endocrinology and Metabolism.
2021.
A rare heterozygous IGFI variant causing postnatal growth failure and offering novel insights into IGF-I physiology.
Cottrell, E; Chatterjee, S; Hwa, V; Storr, HL.
2021.
Genetic causes of growth hormone insensitivity beyond GHR.
Hwa, V; Fujimoto, M; Zhu, G; Gao, W; Foley, C; Kumbaji, M; Rosenfeld, RG.
Reviews in Endocrine and Metabolic Disorders.
2021;
22:43-58.
Developmental Adaptive Immune Defects Associated with STAT5B Deficiency in Three Young Siblings.
Foley, CL; Al Remeithi, SS; Towe, CT; Dauber, A; Backeljauw, PF; Tyzinski, L; Kumar, AR; Hwa, V.
Journal of Clinical Immunology.
2021;
41:136-146.
Human growth disorders associated with impaired GH action: Defects in STAT5B and JAK2.
Hwa, V.
Molecular and Cellular Endocrinology.
2021;
519.
Rare CNVs provide novel insights into the molecular basis of GH and IGF-1 insensitivity.
Cottrell, E; Cabrera, CP; Ishida, M; Chatterjee, S; Greening, J; Wright, N; Bossowski, A; Dunkel, L; Deeb, A; Basiri, IA; et al.
European Journal of Endocrinology.
2020;
183:581-595.