Publications

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Author Title [ Year(Desc)]
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2017
T Yates, M. et al. De novo mutations in HNRNPU result in a neurodevelopmental syndrome. Am J Med Genet A 173, 3003-3012 (2017).
2018
Kumar, R. et al. Severe neurocognitive and growth disorders due to variation in THOC2, an essential component of nuclear mRNA export machinery. Hum Mutat 39, 1126-1138 (2018).
Dashnow, H. et al. STRetch: detecting and discovering pathogenic short tandem repeat expansions. Genome Biol 19, 121 (2018).
Baker, K. et al. SYT1-associated neurodevelopmental disorder: a case series. Brain 141, 2576-2591 (2018).
2019
Lenk, G. M. et al. Cerebral hypomyelination associated with biallelic variants of FIG4. Hum Mutat 40, 619-630 (2019).
Rius, R. et al. Clinical Spectrum and Functional Consequences Associated with Bi-Allelic Pathogenic Variants. J Clin Med 8, (2019).
2020
Tan, T. Yang et al. Bi-allelic ADARB1 Variants Associated with Microcephaly, Intellectual Disability, and Seizures. Am J Hum Genet 106, 467-483 (2020).
Le, T. - L. et al. Bi-allelic Variations of SMO in Humans Cause a Broad Spectrum of Developmental Anomalies Due to Abnormal Hedgehog Signaling. Am J Hum Genet 106, 779-792 (2020).
Jolly, L. A. et al. Missense variant contribution to USP9X-female syndrome. NPJ Genom Med 5, 53 (2020).
Castilla-Vallmanya, L. et al. Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7. Genet Med 22, 1215-1226 (2020).
2021
White, S. M. et al. A DNA repair disorder caused by de novo monoallelic DDB1 variants is associated with a neurodevelopmental syndrome. Am J Hum Genet 108, 749-756 (2021).