Schoenmakers, Erik

A Mutation in the Thyroid Hormone Receptor Alpha Gene

Bochukova, E., Schoenmakers, N., Agostini, M., Schoenmakers, E., Rajanayagam, O., Keogh, J. M., Henning, E., Reinemund, J., Gevers, E., Sarri, M., et al. (2012) · New England Journal of Medicine

Thyroid Disorders and TreatmentsGenomics and Rare Diseases

Cited by 379

Mutations in the selenocysteine insertion sequence-binding protein 2 gene lead to a multisystem selenoprotein deficiency disorder in humans

Schoenmakers, E., Agostini, M., Mitchell, C., Schoenmakers, N., Papp, L., Rajanayagam, O., Padidela, R., Ceron-Gutierrez, L., Doffinger, R., Prevosto, C., et al. (2010) · Journal of Clinical Investigation

Selenium in Biological SystemsOrganoselenium and organotellurium chemistry

Cited by 315

Resistance to thyroid hormone caused by a mutation in thyroid hormone receptor (TR)α1 and TRα2: clinical, biochemical, and genetic analyses of three related patients

Moran, C., Agostini, M., Visser, W. E., Schoenmakers, E., Schoenmakers, N., Offiah, A. C., Poole, K., Rajanayagam, O., Lyons, G., Halsall, D., et al. (2014) · The Lancet Diabetes & Endocrinology

Thyroid Disorders and TreatmentsGenomics and Rare Diseases

Cited by 127

Comprehensive Screening of Eight Known Causative Genes in Congenital Hypothyroidism With Gland-in-Situ

Nicholas, A. K., Serra, E. G., Cangul, H., Alyaarubi, S., Ullah, I., Schoenmakers, E., Deeb, A., Habeb, A. M., Almaghamsi, M., Peters, C., et al. (2016) · The Journal of Clinical Endocrinology & Metabolism

Thyroid Disorders and TreatmentsGenomics and Rare Diseases

Cited by 112

Homozygous loss-of-function mutations in SLC26A7 cause goitrous congenital hypothyroidism

Cangul, H., Liao, X.-H., Schoenmakers, E., Kero, J., Barone, S., Srichomkwun, P., Iwayama, H., Serra, E. G., Saglam, H., Eren, E., et al. (2018) · JCI Insight

Thyroid Disorders and TreatmentsChemical Analysis and Environmental Impact

Cited by 69

Contrasting Phenotypes in Resistance to Thyroid Hormone Alpha Correlate with Divergent Properties of Thyroid Hormone Receptor α1 Mutant Proteins

Moran, C., Agostini, M., McGowan, A., Schoenmakers, E., Fairall, L., Lyons, G., Rajanayagam, O., Watson, L., Offiah, A., Barton, J., et al. (2017) · Thyroid®

Thyroid Disorders and TreatmentsGenomics and Rare Diseases

Cited by 60

DUOX2 / DUOXA2 Mutations Frequently Cause Congenital Hypothyroidism that Evades Detection on Newborn Screening in the United Kingdom

Peters, C., Nicholas, A. K., Schoenmakers, E., Lyons, G., Langham, S., Serra, E. G., Sebire, N. J., Muzza, M., Fugazzola, L., & Schoenmakers, N. (2019) · Thyroid®

Thyroid Disorders and TreatmentsGenomics and Rare Diseases

Cited by 57

A Novel Thyrotropin-Releasing Hormone Receptor Missense Mutation (P81R) in Central Congenital Hypothyroidism

Koulouri, O., Nicholas, A. K., Schoenmakers, E., Mokrosinski, J., Lane, F., Cole, T., Kirk, J., Farooqi, I. S., Chatterjee, V. K., Gurnell, M., et al. (2016) · The Journal of Clinical Endocrinology & Metabolism

Thyroid Disorders and TreatmentsGenomics and Rare Diseases

Cited by 32