CB
Borel, Christelle
Affiliation entities
Title | Published in | Access level | OA Policy | Year | Views | Downloads | |
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La conception: une affaire de protéines | Revue médicale suisse | 2020 | 240 | 99 | |||
Chromatin three-dimensional interactions mediate genetic effects on gene expression | Science | 2019 | 272 | 2 | |||
Deciphering Cell Lineage Specification during Male Sex Determination with Single-Cell RNA Sequencing | Cell Reports | 2018 | 395 | 181 | |||
Systematic proteome and proteostasis profiling in human Trisomy 21 fibroblast cells | Nature Communications | 2017 | 421 | 447 | |||
The genomic landscape of human cellular circadian variation points to a novel role for the signalosome | eLife | 2017 | 365 | 203 | |||
SPINK2 deficiency causes infertility by inducing sperm defects in heterozygotes and azoospermia in homozygotes | EMBO Molecular Medicine | 2017 | 422 | 0 | |||
Structure and function of the human genome | 2016 | 517 | 0 | ||||
HSA21 Single-Minded 2 (Sim2) Binding Sites Co-Localize with Super-Enhancers and Pioneer Transcription Factors in Pluripotent Mouse ES Cells | PloS one | 2015 | 620 | 281 | |||
Opposite phenotypes of muscle strength and locomotor function in mouse models of partial trisomy and monosomy 21 for the proximal Hspa13-App region | PLOS genetics | 2015 | 510 | 197 | |||
Biased allelic expression in human primary fibroblast single cells | American journal of human genetics | 2015 | 544 | 0 | |||
A Case of Wiedemann-Steiner Syndrome Associated with a 46,XY Disorder of Sexual Development and Gonadal Dysgenesis | Sexual development | 2015 | 642 | 0 | |||
DNA-Methylation Patterns in Trisomy 21 Using Cells from Monozygotic Twins | PloS one | 2015 | 570 | 434 | |||
Tissue-specific effects of genetic and epigenetic variation on gene regulation and splicing | PLOS genetics | 2015 | 623 | 222 | |||
Research resource: the dynamic transcriptional profile of sertoli cells during the progression of spermatogenesis | Molecular endocrinology | 2015 | 471 | 1 | |||
Domains of genome-wide gene expression dysregulation in Down's syndrome | Nature | 2014 | 615 | 2 | |||
Loss of Function Mutation in the Palmitoyl-Transferase HHAT Leads to Syndromic 46,XY Disorder of Sex Development by Impeding Hedgehog Protein Palmitoylation and Signaling | PLOS genetics | 2014 | 648 | 271 | |||
Germ cell-specific targeting of DICER or DGCR8 reveals a novel role for endo-siRNAs in the progression of mammalian spermatogenesis and male fertility | PloS one | 2014 | 428 | 204 | |||
The complex SNP and CNV genetic architecture of the increased risk of congenital heart defects in Down syndrome | Genome research | 2013 | 666 | 485 | |||
Passive and active DNA methylation and the interplay with genetic variation in gene regulation | eLife | 2013 | 639 | 430 | |||
Genetic characterization of northeastern Italian population isolates in the context of broader European genetic diversity | European journal of human genetics | 2013 | 554 | 324 | |||
Cardiomyogenesis is controlled by the miR-99a/let-7c cluster and epigenetic modifications | Stem cell research | 2013 | 571 | 0 | |||
Tandem repeat sequence variation as causative cis-eQTLs for protein-coding gene expression variation: the case of CSTB | Human mutation | 2012 | 533 | 0 | |||
Extensive natural variation for cellular hydrogen peroxide release is genetically controlled | PloS one | 2012 | 678 | 374 | |||
Evaluation of PRDM9 variation as a risk factor for recurrent genomic disorders and chromosomal non-disjunction | Human genetics | 2012 | 601 | 0 | |||
Evidence for transcript networks composed of chimeric RNAs in human cells | PloS one | 2012 | 1 091 | 487 | |||
Identification of cis- and trans-regulatory variation modulating microRNA expression levels in human fibroblasts | Genome research | 2011 | 637 | 322 | |||
Regulation of fibrinogen production by microRNAs | Blood | 2010 | 567 | 0 | |||
New class of gene-termini-associated human RNAs suggests a novel RNA copying mechanism | Nature | 2010 | 592 | 304 | |||
A mouse embryonic stem cell bank for inducible overexpression of human chromosome 21 genes | GenomeBiology.com | 2010 | 549 | 366 | |||
Genetic structure of Europeans: a view from the North-East | PloS one | 2009 | 642 | 493 | |||
Common regulatory variation impacts gene expression in a cell type-dependent manner | Science | 2009 | 630 | 2 | |||
Transcriptional and post-transcriptional profile of human chromosome 21 | Genome research | 2009 | 635 | 0 | |||
Three common polymorphisms in the CYBA gene form a haplotype associated with decreased ROS generation | Human mutation | 2009 | 585 | 0 | |||
Functional genetic variation of human miRNAs and phenotypic consequences | Mammalian genome | 2008 | 541 | 223 | |||
Mapping of small RNAs in the human ENCODE regions | American journal of human genetics | 2008 | 553 | 0 | |||
DYRK1A-dosage imbalance perturbs NRSF/REST levels, deregulating pluripotency and embryonic stem cell fate in Down syndrome | American journal of human genetics | 2008 | 564 | 0 | |||
Synaptojanin 1-linked phosphoinositide dyshomeostasis and cognitive deficits in mouse models of Down's syndrome | Proceedings of the National Academy of Sciences of the United States of America | 2008 | 490 | 0 | |||
Human microRNA-155 on chromosome 21 differentially interacts with its polymorphic target in the AGTR1 3' untranslated region: a mechanism for functional single-nucleotide polymorphisms related to phenotypes | American journal of human genetics | 2007 | 600 | 0 | |||
Different mechanisms preclude mutant CLDN14 proteins from forming tight junctions in vitro | Human mutation | 2005 | 605 | 0 | |||
Peutz-Jeghers LKB1 mutants fail to activate GSK-3beta, preventing it from inhibiting Wnt signaling | Molecular genetics and genomics | 2005 | 542 | 237 | |||
ARF1 regulates Nef-induced CD4 degradation | Current biology | 2004 | 651 | 0 | |||
HIV-1 Nef protein binds to the cellular protein PACS-1 to downregulate class I major histocompatibility complexes | Nature cell biology | 2000 | 613 | 1 |