Items where authors include "Bernstein, J.A."

Article

Chen, Y. orcid.org/0000-0001-5593-6920, Dawes, R. orcid.org/0000-0003-2135-0117, Kim, H.C. orcid.org/0000-0001-5877-5456 et al. (116 more authors) (2024) De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome. Nature, 632. pp. 832-840. ISSN 0028-0836

Riedl, M.A., Farkas, H., Aygören-Pürsün, E. et al. (28 more authors) (2024) Oral Sebetralstat for On-Demand Treatment of Hereditary Angioedema Attacks. New England Journal of Medicine, 391 (1). pp. 32-43. ISSN 0028-4793

Zuberbier, T. orcid.org/0000-0002-1466-8875, Abdul Latiff, A., Aggelidis, X. orcid.org/0000-0003-1715-3022 et al. (105 more authors) (2023) A concept for integrated care pathways for atopic dermatitis—A GA2LEN ADCARE initiative. Clinical and Translational Allergy, 13 (9). e12299. ISSN 2045-7022

Niggl, E. orcid.org/0000-0002-5654-8425, Bouman, A., Briere, L.C. et al. (345 more authors) (2023) HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder. The American Journal of Human Genetics, 110 (8). pp. 1414-1435. ISSN 0002-9297

Zarate, Y.A. orcid.org/0000-0001-8235-6200, Bosanko, K.A., Caffrey, A.R. et al. (45 more authors) (2019) Mutation update for the SATB2 gene. Human Mutation, 40 (8). pp. 1013-1029. ISSN 1059-7794

Balasubramanian, M. orcid.org/0000-0003-1488-3695, Lord, H., Levesque, S. et al. (14 more authors) (2016) Chitayat syndrome: hyperphalangism, characteristic facies, hallux valgus and bronchomalacia results from a recurrent c.266A>G p.(Tyr89Cys) variant in the ERF gene. Journal of Medical Genetics. ISSN 0022-2593