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The Journal of Clinical Investigation|February 9, 2016
Mutation in human selenocysteine transfer RNA selectively disrupts selenoprotein synthesisErik Schoenmakers, Bradley Carlson, Maura Agostini, et al.The Lancet. Diabetes & Endocrinology|June 28, 2014
Resistance to thyroid hormone caused by a mutation in thyroid hormone receptor (TR)α1 and TRα2: clinical, biochemical, and genetic analyses of three related patientsCarla Moran, Maura Agostini, W Edward Visser, et al.The Journal of Clinical Endocrinology and Metabolism|August 14, 2013
An adult female with resistance to thyroid hormone mediated by defective thyroid hormone receptor αCarla Moran, Nadia Schoenmakers, Maura Agostini, et al.Clinical Endocrinology|August 8, 2018
A novel IGSF1 mutation in a large Irish kindred highlights the need for familial screening in the IGSF1 deficiency syndromeEdna F Roche, Anne McGowan, Olympia Koulouri, et al.The Journal of Clinical Endocrinology and Metabolism|March 21, 2014
A novel albumin gene mutation (R222I) in familial dysalbuminemic hyperthyroxinemiaNadia Schoenmakers, Carla Moran, Irene Campi, et al.Proceedings of the National Academy of Sciences of the United States of America|October 20, 2019
Mutations in thyroid hormone receptor α1 cause premature neurogenesis and progenitor cell depletion in human cortical developmentTeresa G Krieger, Carla M Moran, Alberto Frangini, et al.Journal of the Endocrine Society|December 22, 2017
Homozygous Resistance to Thyroid Hormone <i>β</i>: Can Combined Antithyroid Drug and Triiodothyroacetic Acid Treatment Prevent Cardiac Failure?Carla Moran, Abdelhadi M Habeb, George J Kahaly, et al.Nature Communications|December 2, 2023
Selenoprotein deficiency disorder predisposes to aortic aneurysm formationErik Schoenmakers, Federica Marelli, Helle F Jørgensen, et al.The Journal of Clinical Endocrinology and Metabolism|August 16, 2016
Comprehensive Screening of Eight Known Causative Genes in Congenital Hypothyroidism With Gland-in-SituAdeline K Nicholas, Eva G Serra, Hakan Cangul, et al.The Lancet. Diabetes & Endocrinology|August 5, 2019
Effectiveness and safety of the tri-iodothyronine analogue Triac in children and adults with MCT8 deficiency: an international, single-arm, open-label, phase 2 trialStefan Groeneweg, Robin P Peeters, Carla Moran, et al.Pageof 4