PuSH - Publication Server of Helmholtz Zentrum München

6 Records found.
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1.
Rivas, M.A.* et al.: Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population. PLoS Genet. 14:e1007329 (2018)
2.
Dickinson, M.E.* et al.: Corrigendum: High-throughput discovery of novel developmental phenotypes. Nature 551, 398 (2017)
3.
Dickinson, M.E.* et al.: High-throughput discovery of novel developmental phenotypes. Nature 537, 508-514 (2016)
4.
Kim, J.H.* et al.: De novo mutations in SON disrupt RNA splicing of genes essential for brain development and metabolism, causing an intellectual-disability syndrome. Am. J. Hum. Genet. 99, 711-719 (2016)
5.
Lappalainen, T.* et al.: Transcriptome and genome sequencing uncovers functional variation in humans. Nature 501, 506-511 (2013)
6.
Oates, E.C.* et al.: Mutations in BICD2 cause dominant congenital spinal muscular atrophy and hereditary spastic paraplegia. Am. J. Hum. Genet. 92, 965-973 (2013)