CG
| Title | Published in | Access level | OA Policy | Year | Views | Downloads | |
|---|---|---|---|---|---|---|---|
| Molecular characterization of pathogenic OTOA gene conversions in hearing loss patients | Human Mutation |  | 2021 | 376 | 444 | ||
| Benefits of exome sequencing in children with suspected isolated hearing loss | Genes | | 2021 | 310 | 384 | ||
| Experience of a multidisciplinary task force with exome sequencing for Mendelian disorders | Human genomics | | 2016 | 742 | 300 | ||
| Galanin pathogenic mutations in temporal lobe epilepsy | Human molecular genetics |  | 2015 | 554 | 0 | ||
| DNA-Methylation Patterns in Trisomy 21 Using Cells from Monozygotic Twins | PloS one | | 2015 | 661 | 460 | ||
| Tissue-specific effects of genetic and epigenetic variation on gene regulation and splicing | PLOS genetics | | 2015 | 724 | 297 | ||
| Domains of genome-wide gene expression dysregulation in Down's syndrome | Nature | | 2014 | 706 | 2 | ||
| Exome sequencing in 53 sporadic cases of schizophrenia identifies 18 putative candidate genes | PloS one | | 2014 | 767 | 486 | ||
| Passive and active DNA methylation and the interplay with genetic variation in gene regulation | eLife | | 2013 | 775 | 531 | ||
| Cardiomyogenesis is controlled by the miR-99a/let-7c cluster and epigenetic modifications | Stem cell research | | 2013 | 658 | 0 | ||
| Exome sequencing identifies recurrent somatic MAP2K1 and MAP2K2 mutations in melanoma | Nature genetics | | 2012 | 681 | 3 | ||
| Identification of cis- and trans-regulatory variation modulating microRNA expression levels in human fibroblasts | Genome research | | 2011 | 733 | 356 | ||
| Chromosome conformation capture uncovers potential genome-wide interactions between human conserved non-coding sequences | PloS one | | 2011 | 673 | 426 | ||
| Proliferation deficits and gene expression dysregulation in Down's syndrome (Ts1Cje) neural progenitor cells cultured from neurospheres | Journal of neuroscience research | | 2009 | 661 | 0 | ||
| Genotype-phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21 | European journal of human genetics | | 2009 | 743 | 0 | ||
| Detection of genomic variation by selection of a 9 mb DNA region and high throughput sequencing | PloS one | | 2009 | 873 | 353 | ||
| Mapping of small RNAs in the human ENCODE regions | American journal of human genetics | | 2008 | 621 | 0 | ||
| A DNA resequencing array for pathogenic mutation detection in hypertrophic cardiomyopathy | Human mutation | | 2008 | 756 | 0 | ||
| Monozygotic twins discordant for trisomy 21 and maternal 21q inheritance: a complex series of events | American journal of medical genetics. Part A | | 2008 | 729 | 4 | ||
| Natural gene-expression variation in Down syndrome modulates the outcome of gene-dosage imbalance | American journal of human genetics | | 2007 | 711 | 0 | ||
| Split-hand/split-foot malformation 3 (SHFM3) at 10q24, development of rapid diagnostic methods and gene expression from the region | American journal of medical genetics. Part A | | 2006 | 712 | 0 | ||
| Gene expression variation and expression quantitative trait mapping of human chromosome 21 genes | Human molecular genetics | | 2005 | 606 | 0 | ||
| Gene expression from the aneuploid chromosome in a trisomy mouse model of down syndrome | Genome research | | 2004 | 572 | 0 | ||
| Mutations in the DNAH11 (axonemal heavy chain dynein type 11) gene cause one form of situs inversus totalis and most likely primary ciliary dyskinesia | Proceedings of the National Academy of Sciences of the United States of America | | 2002 | 669 | 0 | ||
| An apparently dominant bipolar affective disorder (BPAD) locus on chromosome 20p11.2-q11.2 in a large Turkish pedigree | European journal of human genetics | | 2001 | 691 | 0 | ||
| Insertion of beta-satellite repeats identifies a transmembrane protease causing both congenital and childhood onset autosomal recessive deafness | Nature genetics | | 2001 | 645 | 0 | ||
| Axonemal beta heavy chain dynein DNAH9: cDNA sequence, genomic structure, and investigation of its role in primary ciliary dyskinesia | Genomics | | 2001 | 639 | 1 | ||
| No deleterious mutations in the FOXJ1 (alias HFH-4) gene in patients with primary ciliary dyskinesia (PCD) | Cytogenetics and cell genetics | | 2000 | 676 | 0 | ||
| Lack of linkage or association between schizophrenia and the polymorphic trinucleotide repeat within the KCNN3 gene on chromosome 1q21 | American journal of medical genetics | | 1999 | 622 | 0 | ||
| No evidence for linkage between schizophrenia and markers at chromosome 15q13-14 | American journal of medical genetics | | 1999 | 462 | 0 | ||
| Schizophrenia susceptibility loci on chromosomes 13q32 and 8p21 | Nature genetics | | 1998 | 577 | 0 | ||
| Loss of LKB1 kinase activity in Peutz-Jeghers syndrome, and evidence for allelic and locus heterogeneity | American journal of human genetics | | 1998 | 576 | 0 |
