Items where authors include "Alkuraya, FS"
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Schirwani, S, Albaba, S, Carere, DA et al. (52 more authors) (2021) Expanding the phenotype of ASXL3-related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL3. American Journal of Medical Genetics Part A, 185 (11). pp. 3446-3458. ISSN 1552-4825
Hall, EA, Nahorski, MS, Murray, LM et al. (32 more authors) (2017) PLAA Mutations Cause a Lethal Infantile Epileptic Encephalopathy by Disrupting Ubiquitin-Mediated Endolysosomal Degradation of Synaptic Proteins. The American Journal of Human Genetics, 100 (5). pp. 706-724. ISSN 0002-9297
Shaheen, R, Szymanska, K, Basu, B et al. (36 more authors) (2016) Characterizing the morbid genome of ciliopathies. Genome Biology, 17 (1). 242. ISSN 1474-760X
Wheway, G, Schmidts, M, Mans, DA et al. (75 more authors) (2015) An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes. Nature Cell Biology, 17 (8). pp. 1074-1087. ISSN 1465-7392