Serra, Eva

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

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

Exploring the genetic architecture of inflammatory bowel disease by whole-genome sequencing identifies association at ADCY7

Luo, Y., de Lange, K. M., Jostins, L., Moutsianas, L., Randall, J., Kennedy, N. A., Lamb, C. A., McCarthy, S., Ahmad, T., Edwards, C., et al. (2017) · Nature Genetics

Inflammatory Bowel DiseaseGenetic Associations and Epidemiology

Cited by 162

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

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