Schoenmakers, Nadia

The UK10K project identifies rare variants in health and disease

The UK10K Consortium, Writing group, Walter, K., Min, J. L., Huang, J., Crooks, L., Memari, Y., McCarthy, S., Perry, J. R. B., Xu, C., et al. (2015) · Nature

Genetic Associations and EpidemiologyGenomics and Rare Diseases

Cited by 1,040

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

An organelle-specific protein landscape identifies novel diseases and molecular mechanisms

Boldt, K., van Reeuwijk, J., Lu, Q., Koutroumpas, K., Nguyen, T.-M. T., Texier, Y., van Beersum, S. E. C., Horn, N., Willer, J. R., Mans, D. A., et al. (2016) · Nature Communications

Genetic and Kidney Cyst DiseasesCystic Fibrosis Research Advances

Cited by 240

2018 European Thyroid Association (ETA) Guidelines on the Diagnosis and Management of Central Hypothyroidism

Persani, L., Brabant, G., Dattani, M., Bonomi, M., Feldt-Rasmussen, U., Fliers, E., Gruters, A., Maiter, D., Schoenmakers, N., & van Trotsenburg, A. S. P. (2018) · European Thyroid Journal

Thyroid Disorders and TreatmentsPituitary Gland Disorders and Treatments

Cited by 222

Loss-of-function mutations in IGSF1 cause an X-linked syndrome of central hypothyroidism and testicular enlargement

Sun, Y., Bak, B., Schoenmakers, N., van Trotsenburg, A. S. P., Oostdijk, W., Voshol, P., Cambridge, E., White, J. K., le Tissier, P., Gharavy, S. N. M., et al. (2012) · Nature Genetics

Thyroid Disorders and TreatmentsHypothalamic control of reproductive hormones

Cited by 217

DIAGNOSIS OF ENDOCRINE DISEASE: Congenital hypothyroidism: update and perspectives

Peters, C., van Trotsenburg, A. S. P., & Schoenmakers, N. (2018) · European Journal of Endocrinology

Thyroid Disorders and TreatmentsThyroid Cancer Diagnosis and Treatment

Cited by 162

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

Recent advances in central congenital hypothyroidism

Schoenmakers, N., Alatzoglou, K. S., Chatterjee, V. K., & Dattani, M. T. (2015) · Journal of Endocrinology

Thyroid Disorders and TreatmentsPituitary Gland Disorders and Treatments

Cited by 125

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

Whole-genome sequence-based analysis of thyroid function

Taylor, P. N., Porcu, E., Chew, S., Campbell, P. J., Traglia, M., Brown, S. J., Mullin, B. H., Shihab, H. A., Min, J., Walter, K., et al. (2015) · Nature Communications

Genetic Associations and EpidemiologyThyroid Disorders and Treatments

Cited by 104

IGSF1 Deficiency: Lessons From an Extensive Case Series and Recommendations for Clinical Management

Joustra, S. D., Heinen, C. A., Schoenmakers, N., Bonomi, M., Ballieux, B. E. P. B., Turgeon, M.-O., Bernard, D. J., Fliers, E., van Trotsenburg, A. S. P., Losekoot, M., et al. (2016) · The Journal of Clinical Endocrinology & Metabolism

Immunodeficiency and Autoimmune DisordersThyroid Disorders and Treatments

Cited by 91

The Clinical and Molecular Characterization of Patients With Dyshormonogenic Congenital Hypothyroidism Reveals Specific Diagnostic Clues for DUOX2 Defects

Muzza, M., Rabbiosi, S., Vigone, M. C., Zamproni, I., Cirello, V., Maffini, M. A., Maruca, K., Schoenmakers, N., Beccaria, L., Gallo, F., et al. (2014) · The Journal of Clinical Endocrinology & Metabolism

Thyroid Disorders and TreatmentsGenomics and Rare Diseases

Cited by 83

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

Digenic DUOX1 and DUOX2 Mutations in Cases With Congenital Hypothyroidism

Aycan, Z., Cangul, H., Muzza, M., Bas, V. N., Fugazzola, L., Chatterjee, V. K., Persani, L., & Schoenmakers, N. (2017) · The Journal of Clinical Endocrinology & Metabolism

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

A novel IGSF 1 mutation in a large Irish kindred highlights the need for familial screening in the IGSF 1 deficiency syndrome

Roche, E. F., McGowan, A., Koulouri, O., Turgeon, M., Nicholas, A. K., Heffernan, E., El‐Khairi, R., Abid, N., Lyons, G., Halsall, D., et al. (2018) · Clinical Endocrinology

Thyroid Disorders and TreatmentsGenomics and Rare Diseases

Cited by 29

TSHR mutations and subclinical congenital hypothyroidism

Schoenmakers, N., & Chatterjee, V. K. (2015) · Nature Reviews Endocrinology

Thyroid Disorders and TreatmentsGenomics and Rare Diseases

Cited by 19