De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides-Baraitser syndrome Telethon Undiagnosed Diseases Program, 1 Nov 2020, In : GENETICS IN MEDICINE. 22, 11, p. 1838-1850 13 p. Research output: Contribution to journal - Article. DOIs: https://doi.org/10.1038/s41436-020-0898-y BCL11A-Related Intellectual Disability. Peron, A., Bradbury, K., Viskochil, D. H. & Dias, C., 26 Sep 2019, GeneReviews. University of Washington, (GeneReviews). Research output: Chapter in Book/Report/Conference proceeding - Chapter Inflammatory Arthritis as a Possible Feature of Coffin-Siris Syndrome Gomes, S. M., DIas, C., Omoyinmi, E., Compeyrot-Lacassagne, S., Klein, N., Sebire, N. J. & Brogan, P., Jul 2019, In : Pediatrics. 144, 1, e20181741. Research output: Contribution to journal - Article. DOIs: https://doi.org/10.1542/peds.2018-1741 Familial impairment of vocal cord mobility in childhood with clubfoot Shaw, R., Dias, C., Ludemann, J., Rupps, R., Tsai, V. & Lehman, A., Oct 2018, In : Clinical Dysmorphology. 27, 4, p. 116-121 6 p. Research output: Contribution to journal - Article. DOIs: https://doi.org/10.1097/MCD.0000000000000227 Revealing the inner workings of organoids Dias, C. & Guillemot, F., 15 May 2017, In : The EMBO journal. 36, p. 1299-1301 Research output: Contribution to journal - Review article. DOIs: https://doi.org/10.15252/embj.201796860 Obesity-associated gene TMEM18 has a role in the central control of appetite and body weight regulation. Larder, R., Sim, M. F. M., Gulati, P., Antrobus, R., Tung, Y. C. L., Rimmington, D., Ayuso, E., Polex-Wolf, J., Lam, B. Y. H., Dias, C., Logan, D. W., Virtue, S., Bosch, F., Yeo, G. S. H., Saudek, V., O'Rahilly, S. & Coll, A. P., 2017, In : Proceedings of the National Academy of Sciences of the United States of America. 114, 25, p. 9421 9426 p. Research output: Contribution to journal - Article. DOIs: https://doi.org/10.1073/pnas.1707310114 BCL11A Haploinsufficiency Causes an Intellectual Disability Syndrome and Dysregulates Transcription Dias, C., Estruch, S. B., Graham, S. A., McRae, J., Sawiak, S. J., Hurst, J. A., Joss, S. K., Holder, S. E., Morton, J. E. V., Turner, C., Thevenon, J., Mellul, K., Sánchez-Andrade, G., Ibarra-Soria, X., Deriziotis, P., Santos, R. F., Lee, S-C., Faivre, L., Kleefstra, T., Liu, P. & 4 others, Hurles, M. E., DDD Study, Fisher, S. E. & Logan, D. W., 4 Aug 2016, In : American Journal of Human Genetics. 99, 2, p. 253-274 22 p. Research output: Contribution to journal - Article. DOIs: https://doi.org/10.1016/j.ajhg.2016.05.030https://doi.org/10.1016/j.ajhg.2016.05.030 Desmosterolosis: An illustration of diagnostic ambiguity of cholesterol synthesis disorders Dias, C., Rupps, R., Millar, B., Choi, K., Marra, M., Demos, M., Kratz, L. E. & Boerkoel, C. F., 25 Jun 2014, In : Orphanet Journal of Rare Diseases. 9, 1, 94. Research output: Contribution to journal - Article. DOIs: https://doi.org/10.1186/1750-1172-9-94 Co-segregation of trichorhinophalangeal syndrome with a t(8;13)(q23.3;q21.31) familial translocation that appears to increase TRPS1 gene expression David, D., Marques, B., Ferreira, C., Araújo, C., Vieira, L., Soares, G., Dias, C. & Pinto, M., 1 Nov 2013, In : Human Genetics. 132, 11, p. 1287-1299 13 p. Research output: Contribution to journal - Article. DOIs: https://doi.org/10.1007/s00439-013-1333-0 Novel mutations in FA2H-associated neurodegeneration: An underrecognized condition? Rupps, R., Hukin, J., Balicki, M., Mercimek-Mahmutoglu, S., Rolfs, A. & Dias, C., 1 Nov 2013, In : Journal of Child Neurology. 28, 11, p. 1500-1504 5 p. Research output: Contribution to journal - Article. DOIs: https://doi.org/10.1177/0883073812458538 View all publications