Nicholas, Adeline K.

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

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