Falconnet, Emilie | Archive ouverte UNIGE

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Title	Published in	Year	Views	Downloads

Chromatin three-dimensional interactions mediate genetic effects on gene expression	Science	2019	361	2
Visual impairment and progressive phthisis bulbi caused by recessive pathogenic variant in MARK3	Human molecular genetics	2018	78	90
The genomic landscape of human cellular circadian variation points to a novel role for the signalosome	eLife	2017	444	250
HSA21 Single-Minded 2 (Sim2) Binding Sites Co-Localize with Super-Enhancers and Pioneer Transcription Factors in Pluripotent Mouse ES Cells	PloS one	2015	688	345
Biased allelic expression in human primary fibroblast single cells	American journal of human genetics	2015	610	0
Tissue-specific effects of genetic and epigenetic variation on gene regulation and splicing	PLOS genetics	2015	728	314
Domains of genome-wide gene expression dysregulation in Down's syndrome	Nature	2014	708	2
Extrachromosomal driver mutations in glioblastoma and low-grade glioma	Nature communications	2014	773	267
Frequent cases of RAS-mutated Down syndrome acute lymphoblastic leukaemia lack JAK2 mutations	Nature communications	2014	649	231
The complex SNP and CNV genetic architecture of the increased risk of congenital heart defects in Down syndrome	Genome research	2013	749	645
Passive and active DNA methylation and the interplay with genetic variation in gene regulation	eLife	2013	778	541
Cardiomyogenesis is controlled by the miR-99a/let-7c cluster and epigenetic modifications	Stem cell research	2013	665	0
Exome sequencing identifies putative drivers of progression of transient myeloproliferative disorder to AMKL in infants with Down syndrome	Blood	2013	680	0
Landscape of transcription in human cells	Nature	2012	893	850
Identification of cis- and trans-regulatory variation modulating microRNA expression levels in human fibroblasts	Genome research	2011	735	363
DNAI1 mutations explain only 2% of primary ciliary dykinesia	Respiration	2008	832	510