CB
Publications
42
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1 - 42 of 42
Title Published in Access level OA Policy Year Views Downloads
La conception: une affaire de protéinesRevue médicale suisse
2020 314 271
Chromatin three-dimensional interactions mediate genetic effects on gene expressionScience
2019 361 2
Deciphering Cell Lineage Specification during Male Sex Determination with Single-Cell RNA SequencingCell Reports
2018 461 479
Systematic proteome and proteostasis profiling in human Trisomy 21 fibroblast cellsNature Communications
2017 504 619
The genomic landscape of human cellular circadian variation points to a novel role for the signalosomeeLife
2017 444 250
SPINK2 deficiency causes infertility by inducing sperm defects in heterozygotes and azoospermia in homozygotesEMBO Molecular Medicine
2017 501 0
Structure and function of the human genome
2016 569 0
HSA21 Single-Minded 2 (Sim2) Binding Sites Co-Localize with Super-Enhancers and Pioneer Transcription Factors in Pluripotent Mouse ES CellsPloS one
2015 688 345
Opposite phenotypes of muscle strength and locomotor function in mouse models of partial trisomy and monosomy 21 for the proximal Hspa13-App regionPLOS genetics
2015 617 283
Biased allelic expression in human primary fibroblast single cellsAmerican journal of human genetics
2015 610 0
A Case of Wiedemann-Steiner Syndrome Associated with a 46,XY Disorder of Sexual Development and Gonadal DysgenesisSexual development
2015 754 0
DNA-Methylation Patterns in Trisomy 21 Using Cells from Monozygotic TwinsPloS one
2015 665 466
Tissue-specific effects of genetic and epigenetic variation on gene regulation and splicingPLOS genetics
2015 728 314
Research resource: the dynamic transcriptional profile of sertoli cells during the progression of spermatogenesisMolecular endocrinology
2015 540 1
Domains of genome-wide gene expression dysregulation in Down's syndromeNature
2014 708 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
2014 728 327
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
2014 490 251
The complex SNP and CNV genetic architecture of the increased risk of congenital heart defects in Down syndromeGenome research
2013 749 645
Passive and active DNA methylation and the interplay with genetic variation in gene regulationeLife
2013 778 541
Genetic characterization of northeastern Italian population isolates in the context of broader European genetic diversityEuropean journal of human genetics
2013 651 436
Cardiomyogenesis is controlled by the miR-99a/let-7c cluster and epigenetic modificationsStem cell research
2013 665 0
Tandem repeat sequence variation as causative cis-eQTLs for protein-coding gene expression variation: the case of CSTBHuman mutation
2012 596 0
Extensive natural variation for cellular hydrogen peroxide release is genetically controlledPloS one
2012 761 506
Evaluation of PRDM9 variation as a risk factor for recurrent genomic disorders and chromosomal non-disjunctionHuman genetics
2012 679 0
Evidence for transcript networks composed of chimeric RNAs in human cellsPloS one
2012 1,155 571
Identification of cis- and trans-regulatory variation modulating microRNA expression levels in human fibroblastsGenome research
2011 735 363
Regulation of fibrinogen production by microRNAsBlood
2010 634 0
New class of gene-termini-associated human RNAs suggests a novel RNA copying mechanismNature
2010 663 394
A mouse embryonic stem cell bank for inducible overexpression of human chromosome 21 genesGenomeBiology.com
2010 671 491
Genetic structure of Europeans: a view from the North-EastPloS one
2009 781 2,468
Common regulatory variation impacts gene expression in a cell type-dependent mannerScience
2009 687 2
Transcriptional and post-transcriptional profile of human chromosome 21Genome research
2009 717 0
Three common polymorphisms in the CYBA gene form a haplotype associated with decreased ROS generationHuman mutation
2009 671 0
Functional genetic variation of human miRNAs and phenotypic consequencesMammalian genome
2008 598 328
Mapping of small RNAs in the human ENCODE regionsAmerican journal of human genetics
2008 624 0
DYRK1A-dosage imbalance perturbs NRSF/REST levels, deregulating pluripotency and embryonic stem cell fate in Down syndromeAmerican journal of human genetics
2008 647 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
2008 575 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
2007 718 0
Different mechanisms preclude mutant CLDN14 proteins from forming tight junctions in vitroHuman mutation
2005 677 0
Peutz-Jeghers LKB1 mutants fail to activate GSK-3beta, preventing it from inhibiting Wnt signalingMolecular genetics and genomics
2005 606 446
ARF1 regulates Nef-induced CD4 degradationCurrent biology
2004 731 0
HIV-1 Nef protein binds to the cellular protein PACS-1 to downregulate class I major histocompatibility complexesNature cell biology
2000 701 1
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