Temple Street Children's University Hospital / Children's Health Ireland (CHI)

Heterozygous and homozygous variants in STX1A cause a neurodevelopmental disorder with or without epilepsy (2022) Luppe J, Sticht H, Lecoquierre F, Goldenberg A, Gorman KM, Molloy B, Agolini E, et al. Journal article Assessment of the Genetic Spectrum of Uncombable Hair Syndrome in a Cohort of 107 Individuals (2022) Basmanav FB, Cesarato N, Kumar S, Borisov O, Kokordelis P, Ralser DJ, Wehner M, et al. Journal article INFANTS AND NEWBORNS WITH ATYPICAL TERATOID/RHABDOID TUMORS (ATRT) AND EXTRACRANIAL MALIGNANT RHABDOID TUMORS: A UNIQUE AND CHALLENGING POPULATION (2022) Nemes K, Johann PD, Steinbuegl M, Gruhle M, Bens S, Kachanov D, Teleshova M, et al. Conference contribution Infants and Newborns with Atypical Teratoid Rhabdoid Tumors (ATRT) and Extracranial Malignant Rhabdoid Tumors (eMRT) in the EU-RHAB Registry: A Unique and Challenging Population (2022) Nemes K, Johann PD, Steinbügl M, Gruhle M, Bens S, Kachanov D, Teleshova M, et al. Journal article Break on through: The role of innate immunity and barrier defence in atopic dermatitis and psoriasis (2022) Hawerkamp HC, Caoimhe F, Fallon PG, Schwartz C Journal article De novo missense variants in FBXO11 alter its protein expression and subcellular localization (2022) Gregor A, Meerbrei T, Gerstner T, Toutain A, Lynch SA, Stals K, Maxton C, et al. Journal article, Original article SOMATIC GENETIC RESCUE IN SAMD9/SAMD9L MDS PREDISPOSITION SYNDROMES (2021) Sahoo S, Pastor V, Goodings C, Noellke P, Dworzak M, Stary J, Locatelli F, et al. Conference contribution Missense variants in NDD-associated FBXO11 impair its localization and Fbxo11 deficiency leads to neuronal impairment in Drosophila melanogaster (2020) Gregor A, Meerbrei T, Distel L, Gerstner T, Gupta A, Toutain A, Lynch SA, et al. Conference contribution Long-term, open-label extension study of the efficacy and safety of epicutaneous immunotherapy for peanut allergy in children: PEOPLE 3-year results (2020) Fleischer DM, Shreffler WG, Campbell DE, Green TD, Anvari S, Assa'ad A, Bégin P, et al. Journal article Spontaneous atopic dermatitis in mice with a defective skin barrier is independent of ILC2 and mediated by IL-1β (2019) Schwartz C, Moran T, Saunders SP, Kaszlikowska A, Floudas A, Bom J, Nunez G, et al. Journal article