Reymond, Alexandre | Archive ouverte UNIGE

Title	Published in	Year	Views	Downloads
Inactivation of AMMECR1 is associated with growth, bone, and heart alterations	Human Mutation	2018	601	453
KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis	American Journal of Human Genetics	2018	606	380
GNB5 Mutations Cause an Autosomal-Recessive Multisystem Syndrome with Sinus Bradycardia and Cognitive Disability	American journal of human genetics	2016	704	666
Population Variation and Genetic Control of Modular Chromatin Architecture in Humans	Cell	2015	529	0
Identification and removal of low-complexity sites in allele-specific analysis of ChIP-seq data	Bioinformatics	2014	531	0
Coordinated effects of sequence variation on DNA binding, chromatin structure, and transcription	Science	2013	555	1
Landscape of transcription in human cells	Nature	2012	901	889
Evidence for transcript networks composed of chimeric RNAs in human cells	PloS one	2012	1,163	578
A high-resolution anatomical atlas of the transcriptome in the mouse embryo	PLoS biology	2011	681	1,095
Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus	Nature	2011	820	2
Identifying protein-coding genes in genomic sequences	GenomeBiology.com	2009	688	447
The genome sequence of taurine cattle: a window to ruminant biology and evolution	Science	2009	747	5
Variation in novel exons (RACEfrags) of the MECP2 gene in Rett syndrome patients and controls	Human mutation	2009	489	0
Assaying the regulatory potential of mammalian conserved non-coding sequences in human cells	GenomeBiology.com	2008	673	442
Efficient targeted transcript discovery via array-based normalization of RACE libraries	Nature methods	2008	708	549
Williams-Beuren syndrome TRIM50 encodes an E3 ubiquitin ligase	European journal of human genetics	2008	648	0
Prominent use of distal 5' transcription start sites and discovery of a large number of additional exons in ENCODE regions	Genome research	2007	652	0
Pseudogenes in the ENCODE regions: consensus annotation, analysis of transcription, and evolution	Genome research	2007	562	0
Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project	Nature	2007	725	687
Islands of euchromatin-like sequence and expressed polymorphic sequences within the short arm of human chromosome 21	Genome research	2007	657	0
Structured RNAs in the ENCODE selected regions of the human genome	Genome research	2007	597	0
The implications of alternative splicing in the ENCODE protein complement	Proceedings of the National Academy of Sciences of the United States of America	2007	570	1
Conserved noncoding sequences are selectively constrained and not mutation cold spots	Nature genetics	2006	712	0
Tandem chimerism as a means to increase protein complexity in the human genome	Genome research	2006	631	0
GENCODE: producing a reference annotation for ENCODE	GenomeBiology.com	2006	718	649
EGASP: the human ENCODE Genome Annotation Assessment Project	GenomeBiology.com	2006	840	609
Two high throughput technologies to detect segmental aneuploidies identify new Williams-Beuren syndrome patients with atypical deletions	Journal of medical genetics	2006	709	0
Submicroscopic deletion in patients with Williams-Beuren syndrome influences expression levels of the nonhemizygous flanking genes	American journal of human genetics	2006	699	0
LKB1 interacts with and phosphorylates PTEN: a functional link between two proteins involved in cancer predisposing syndromes	Human molecular genetics	2005	671	0
Different mechanisms preclude mutant CLDN14 proteins from forming tight junctions in vitro	Human mutation	2005	687	0
Evolutionary comparison provides evidence for pathogenicity of RMRP mutations	PLOS genetics	2005	650	547
Conserved non-genic sequences - an unexpected feature of mammalian genomes	Nature reviews. Genetics	2005	580	0
Gene finding in the chicken genome	BMC bioinformatics	2005	679	324
Comparative gene finding in chicken indicates that we are closing in on the set of multi-exonic widely expressed human genes	Nucleic acids research	2005	600	0
A novel TMPRSS3 missense mutation in a DFNB8/10 family prevents proteolytic activation of the protein	Human genetics	2005	718	424
Knobloch syndrome: novel mutations in COL18A1, evidence for genetic heterogeneity, and a functionally impaired polymorphism in endostatin	Human mutation	2004	693	0
Chromosome 21 and down syndrome: from genomics to pathophysiology	Nature reviews. Genetics	2004	810	0
The subcellular localization of the ChoRE-binding protein, encoded by the Williams-Beuren syndrome critical region gene 14, is regulated by 14-3-3	Human molecular genetics	2004	615	0
The Caenorhabditis elegans ortholog of C21orf80, a potential new protein O-fucosyltransferase, is required for normal development	Genomics	2004	601	0
Comparison of human chromosome 21 conserved nongenic sequences (CNGs) with the mouse and dog genomes shows that their selective constraint is independent of their genic environment	Genome research	2004	626	0
Comparison of mouse and human genomes followed by experimental verification yields an estimated 1,019 additional genes	Proceedings of the National Academy of Sciences of the United States of America	2003	691	0
Identification of a novel member of the CLIC family, CLIC6, mapping to 21q22.12	Gene	2003	664	0
The TPTE gene family: cellular expression, subcellular localization and alternative splicing	Gene	2003	726	0
Evolutionary discrimination of mammalian conserved non-genic sequences (CNGs)	Science	2003	656	0
Chromosome 21 and Down syndrome: the post-sequence era	Cold Spring Harbor Symposia on Quantitative Biology	2003	587	0
Numerous potentially functional but non-genic conserved sequences on human chromosome 21	Nature	2002	620	0
Chromosome 21: a small land of fascinating disorders with unknown pathophysiology	The International journal of developmental biology	2002	566	0
Nineteen additional unpredicted transcripts from human chromosome 21	Genomics	2002	750	0
Human chromosome 21 gene expression atlas in the mouse	Nature	2002	636	0
The transmembrane serine protease (TMPRSS3) mutated in deafness DFNB8/10 activates the epithelial sodium channel (ENaC) in vitro	Human molecular genetics	2002	665	0
The murine orthologue of the Golgi-localized TPTE protein provides clues to the evolutionary history of the human TPTE gene family	Human genetics	2001	614	395
From PREDs and open reading frames to cDNA isolation: revisiting the human chromosome 21 transcription map	Genomics	2001	645	0