Jolles, Stephen

Whole-genome sequencing of patients with rare diseases in a national health system

Turro, E., Astle, W. J., Megy, K., Gräf, S., Greene, D., Shamardina, O., Allen, H. L., Sanchis-Juan, A., Frontini, M., Thys, C., et al. (2020) · Nature

Genomics and Rare DiseasesGenetic Associations and Epidemiology

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The FcRn inhibitor rozanolixizumab reduces human serum IgG concentration: A randomized phase 1 study

Kiessling, P., Lledo-Garcia, R., Watanabe, S., Langdon, G., Tran, D., Bari, M., Christodoulou, L., Jones, E., Price, G., Smith, B., et al. (2017) · Science Translational Medicine

Monoclonal and Polyclonal Antibodies ResearchImmunodeficiency and Autoimmune Disorders

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Mutations in TRNT1 cause congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD)

Chakraborty, P. K., Schmitz-Abe, K., Kennedy, E. K., Mamady, H., Naas, T., Durie, D., Campagna, D. R., Lau, A., Sendamarai, A. K., Wiseman, D. H., et al. (2014) · Blood

Iron Metabolism and DisordersRNA and protein synthesis mechanisms

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Hematopoietic stem cell transplantation in 29 patients hemizygous for hypomorphic IKBKG/NEMO mutations

Miot, C., Imai, K., Imai, C., Mancini, A. J., Kucuk, Z. Y., Kawai, T., Nishikomori, R., Ito, E., Pellier, I., Dupuis Girod, S., et al. (2017) · Blood

Immunodeficiency and Autoimmune DisordersHematopoietic Stem Cell Transplantation

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De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures

Ito, Y., Carss, K. J., Duarte, S. T., Hartley, T., Keren, B., Kurian, M. A., Marey, I., Charles, P., Mendonça, C., Nava, C., et al. (2018) · The American Journal of Human Genetics

Genetics and Neurodevelopmental DisordersGenomics and Rare Diseases

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