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 240 99
Chromatin three-dimensional interactions mediate genetic effects on gene expressionScience
accessLevelRestricted
2019 272 2
Deciphering Cell Lineage Specification during Male Sex Determination with Single-Cell RNA SequencingCell Reports
accessLevelPublic
2018 395 181
Systematic proteome and proteostasis profiling in human Trisomy 21 fibroblast cellsNature Communications
accessLevelPublic
2017 421 447
The genomic landscape of human cellular circadian variation points to a novel role for the signalosomeeLife
accessLevelPublic
2017 365 203
SPINK2 deficiency causes infertility by inducing sperm defects in heterozygotes and azoospermia in homozygotesEMBO Molecular Medicine
accessLevelRestricted
2017 422 0
Structure and function of the human genome
accessLevelPrivate
2016 517 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 620 281
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 510 197
Biased allelic expression in human primary fibroblast single cellsAmerican journal of human genetics
accessLevelPrivate
2015 544 0
A Case of Wiedemann-Steiner Syndrome Associated with a 46,XY Disorder of Sexual Development and Gonadal DysgenesisSexual development
2015 642 0
DNA-Methylation Patterns in Trisomy 21 Using Cells from Monozygotic TwinsPloS one
accessLevelPublic
2015 570 434
Tissue-specific effects of genetic and epigenetic variation on gene regulation and splicingPLOS genetics
accessLevelPublic
2015 623 222
Research resource: the dynamic transcriptional profile of sertoli cells during the progression of spermatogenesisMolecular endocrinology
accessLevelRestricted
2015 471 1
Domains of genome-wide gene expression dysregulation in Down's syndromeNature
accessLevelRestricted
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 SignalingPLOS genetics
accessLevelPublic
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 fertilityPloS one
accessLevelPublic
2014 428 204
The complex SNP and CNV genetic architecture of the increased risk of congenital heart defects in Down syndromeGenome research
accessLevelPublic
2013 666 485
Passive and active DNA methylation and the interplay with genetic variation in gene regulationeLife
accessLevelPublic
2013 639 430
Genetic characterization of northeastern Italian population isolates in the context of broader European genetic diversityEuropean journal of human genetics
accessLevelPublic
2013 554 324
Cardiomyogenesis is controlled by the miR-99a/let-7c cluster and epigenetic modificationsStem cell research
accessLevelRestricted
2013 571 0
Tandem repeat sequence variation as causative cis-eQTLs for protein-coding gene expression variation: the case of CSTBHuman mutation
accessLevelRestricted
2012 533 0
Extensive natural variation for cellular hydrogen peroxide release is genetically controlledPloS one
accessLevelPublic
2012 678 374
Evaluation of PRDM9 variation as a risk factor for recurrent genomic disorders and chromosomal non-disjunctionHuman genetics
accessLevelPrivate
2012 601 0
Evidence for transcript networks composed of chimeric RNAs in human cellsPloS one
accessLevelPublic
2012 1 091 487
Identification of cis- and trans-regulatory variation modulating microRNA expression levels in human fibroblastsGenome research
accessLevelPublic
2011 637 322
Regulation of fibrinogen production by microRNAsBlood
accessLevelRestricted
2010 567 0
New class of gene-termini-associated human RNAs suggests a novel RNA copying mechanismNature
accessLevelPublic
2010 592 304
A mouse embryonic stem cell bank for inducible overexpression of human chromosome 21 genesGenomeBiology.com
accessLevelPublic
2010 549 366
Genetic structure of Europeans: a view from the North-EastPloS one
accessLevelPublic
2009 642 493
Common regulatory variation impacts gene expression in a cell type-dependent mannerScience
accessLevelRestricted
2009 630 2
Transcriptional and post-transcriptional profile of human chromosome 21Genome research
accessLevelRestricted
2009 635 0
Three common polymorphisms in the CYBA gene form a haplotype associated with decreased ROS generationHuman mutation
accessLevelRestricted
2009 585 0
Functional genetic variation of human miRNAs and phenotypic consequencesMammalian genome
accessLevelPublic
2008 541 223
Mapping of small RNAs in the human ENCODE regionsAmerican journal of human genetics
accessLevelRestricted
2008 553 0
DYRK1A-dosage imbalance perturbs NRSF/REST levels, deregulating pluripotency and embryonic stem cell fate in Down syndromeAmerican journal of human genetics
accessLevelRestricted
2008 564 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 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 phenotypesAmerican journal of human genetics
accessLevelRestricted
2007 600 0
Different mechanisms preclude mutant CLDN14 proteins from forming tight junctions in vitroHuman mutation
accessLevelRestricted
2005 605 0
Peutz-Jeghers LKB1 mutants fail to activate GSK-3beta, preventing it from inhibiting Wnt signalingMolecular genetics and genomics
accessLevelPublic
2005 542 237
ARF1 regulates Nef-induced CD4 degradationCurrent biology
accessLevelRestricted
2004 651 0
HIV-1 Nef protein binds to the cellular protein PACS-1 to downregulate class I major histocompatibility complexesNature cell biology
accessLevelRestricted
2000 613 1
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