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Plos Genetics|January 31, 2015
Tissue-specific effects of genetic and epigenetic variation on gene regulation and splicingMaria Gutierrez-Arcelus, Halit Ongen, Tuuli Lappalainen, et al.Nature|April 18, 2014
Domains of genome-wide gene expression dysregulation in Down's syndromeAudrey Letourneau, Federico A Santoni, Ximena Bonilla, et al.Human Molecular Genetics|February 19, 2015
Galanin pathogenic mutations in temporal lobe epilepsyMichel Guipponi, Amina Chentouf, Kristin E B Webling, et al.European Journal of Human Genetics : EJHG|November 13, 2008
Genotype-phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21Robert Lyle, Frédérique Béna, Sarantis Gagos, et al.Nature Communications|February 9, 2017
X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3Chiara Olcese, Mitali P Patel, Amelia Shoemark, et al.Pageof 3