CB
Publications
42
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Title Published in Access level OA Policy Year Views Downloads
La conception: une affaire de protéinesRevue médicale suisse
accessLevelPublic
2020 254 117
Chromatin three-dimensional interactions mediate genetic effects on gene expressionScience
accessLevelRestricted
2019 286 2
Deciphering Cell Lineage Specification during Male Sex Determination with Single-Cell RNA SequencingCell Reports
accessLevelPublic
2018 405 198
Systematic proteome and proteostasis profiling in human Trisomy 21 fibroblast cellsNature Communications
accessLevelPublic
2017 436 465
The genomic landscape of human cellular circadian variation points to a novel role for the signalosomeeLife
accessLevelPublic
2017 378 209
SPINK2 deficiency causes infertility by inducing sperm defects in heterozygotes and azoospermia in homozygotesEMBO Molecular Medicine
accessLevelRestricted
2017 434 0
Structure and function of the human genome
accessLevelPrivate
2016 525 0
HSA21 Single-Minded 2 (Sim2) Binding Sites Co-Localize with Super-Enhancers and Pioneer Transcription Factors in Pluripotent Mouse ES CellsPloS one
accessLevelPublic
2015 631 284
Opposite phenotypes of muscle strength and locomotor function in mouse models of partial trisomy and monosomy 21 for the proximal Hspa13-App regionPLOS genetics
accessLevelPublic
2015 533 202
Biased allelic expression in human primary fibroblast single cellsAmerican journal of human genetics
accessLevelPrivate
2015 552 0
A Case of Wiedemann-Steiner Syndrome Associated with a 46,XY Disorder of Sexual Development and Gonadal DysgenesisSexual development
2015 661 0
DNA-Methylation Patterns in Trisomy 21 Using Cells from Monozygotic TwinsPloS one
accessLevelPublic
2015 579 439
Tissue-specific effects of genetic and epigenetic variation on gene regulation and splicingPLOS genetics
accessLevelPublic
2015 633 225
Research resource: the dynamic transcriptional profile of sertoli cells during the progression of spermatogenesisMolecular endocrinology
accessLevelRestricted
2015 478 1
Domains of genome-wide gene expression dysregulation in Down's syndromeNature
accessLevelRestricted
2014 626 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 SignalingPLOS genetics
accessLevelPublic
2014 663 278
Germ cell-specific targeting of DICER or DGCR8 reveals a novel role for endo-siRNAs in the progression of mammalian spermatogenesis and male fertilityPloS one
accessLevelPublic
2014 439 207
The complex SNP and CNV genetic architecture of the increased risk of congenital heart defects in Down syndromeGenome research
accessLevelPublic
2013 678 496
Passive and active DNA methylation and the interplay with genetic variation in gene regulationeLife
accessLevelPublic
2013 655 438
Genetic characterization of northeastern Italian population isolates in the context of broader European genetic diversityEuropean journal of human genetics
accessLevelPublic
2013 567 331
Cardiomyogenesis is controlled by the miR-99a/let-7c cluster and epigenetic modificationsStem cell research
accessLevelRestricted
2013 585 0
Tandem repeat sequence variation as causative cis-eQTLs for protein-coding gene expression variation: the case of CSTBHuman mutation
accessLevelRestricted
2012 540 0
Extensive natural variation for cellular hydrogen peroxide release is genetically controlledPloS one
accessLevelPublic
2012 689 378
Evaluation of PRDM9 variation as a risk factor for recurrent genomic disorders and chromosomal non-disjunctionHuman genetics
accessLevelPrivate
2012 619 0
Evidence for transcript networks composed of chimeric RNAs in human cellsPloS one
accessLevelPublic
2012 1,099 494
Identification of cis- and trans-regulatory variation modulating microRNA expression levels in human fibroblastsGenome research
accessLevelPublic
2011 650 328
Regulation of fibrinogen production by microRNAsBlood
accessLevelRestricted
2010 577 0
New class of gene-termini-associated human RNAs suggests a novel RNA copying mechanismNature
accessLevelPublic
2010 603 306
A mouse embryonic stem cell bank for inducible overexpression of human chromosome 21 genesGenomeBiology.com
accessLevelPublic
2010 575 375
Genetic structure of Europeans: a view from the North-EastPloS one
accessLevelPublic
2009 654 501
Common regulatory variation impacts gene expression in a cell type-dependent mannerScience
accessLevelRestricted
2009 639 2
Transcriptional and post-transcriptional profile of human chromosome 21Genome research
accessLevelRestricted
2009 652 0
Three common polymorphisms in the CYBA gene form a haplotype associated with decreased ROS generationHuman mutation
accessLevelRestricted
2009 604 0
Functional genetic variation of human miRNAs and phenotypic consequencesMammalian genome
accessLevelPublic
2008 549 237
Mapping of small RNAs in the human ENCODE regionsAmerican journal of human genetics
accessLevelRestricted
2008 565 0
DYRK1A-dosage imbalance perturbs NRSF/REST levels, deregulating pluripotency and embryonic stem cell fate in Down syndromeAmerican journal of human genetics
accessLevelRestricted
2008 575 0
Synaptojanin 1-linked phosphoinositide dyshomeostasis and cognitive deficits in mouse models of Down's syndromeProceedings of the National Academy of Sciences of the United States of America
accessLevelRestricted
2008 500 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 phenotypesAmerican journal of human genetics
accessLevelRestricted
2007 622 0
Different mechanisms preclude mutant CLDN14 proteins from forming tight junctions in vitroHuman mutation
accessLevelRestricted
2005 622 0
Peutz-Jeghers LKB1 mutants fail to activate GSK-3beta, preventing it from inhibiting Wnt signalingMolecular genetics and genomics
accessLevelPublic
2005 550 253
ARF1 regulates Nef-induced CD4 degradationCurrent biology
accessLevelRestricted
2004 665 0
HIV-1 Nef protein binds to the cellular protein PACS-1 to downregulate class I major histocompatibility complexesNature cell biology
accessLevelRestricted
2000 624 1
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