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| Benefits of exome sequencing in children with suspected isolated hearing loss | Genes | | | 2021 | 319 | 495 |
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| Experience of a multidisciplinary task force with exome sequencing for Mendelian disorders | Human genomics | | | 2016 | 749 | 354 |
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| Galanin pathogenic mutations in temporal lobe epilepsy | Human molecular genetics | | | 2015 | 558 | 0 |
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| DNA-Methylation Patterns in Trisomy 21 Using Cells from Monozygotic Twins | PloS one | | | 2015 | 667 | 472 |
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| Tissue-specific effects of genetic and epigenetic variation on gene regulation and splicing | PLOS genetics | | | 2015 | 730 | 328 |
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| Domains of genome-wide gene expression dysregulation in Down's syndrome | Nature | | | 2014 | 710 | 2 |
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| Exome sequencing in 53 sporadic cases of schizophrenia identifies 18 putative candidate genes | PloS one | | | 2014 | 772 | 508 |
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| Passive and active DNA methylation and the interplay with genetic variation in gene regulation | eLife | | | 2013 | 780 | 545 |
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| Cardiomyogenesis is controlled by the miR-99a/let-7c cluster and epigenetic modifications | Stem cell research | | | 2013 | 667 | 0 |
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| Exome sequencing identifies recurrent somatic MAP2K1 and MAP2K2 mutations in melanoma | Nature genetics | | | 2012 | 687 | 3 |
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| Identification of cis- and trans-regulatory variation modulating microRNA expression levels in human fibroblasts | Genome research | | | 2011 | 737 | 365 |
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| Chromosome conformation capture uncovers potential genome-wide interactions between human conserved non-coding sequences | PloS one | | | 2011 | 680 | 457 |
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| Proliferation deficits and gene expression dysregulation in Down's syndrome (Ts1Cje) neural progenitor cells cultured from neurospheres | Journal of neuroscience research | | | 2009 | 670 | 0 |
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| 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 | 747 | 0 |
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| Detection of genomic variation by selection of a 9 mb DNA region and high throughput sequencing | PloS one | | | 2009 | 880 | 366 |
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| Mapping of small RNAs in the human ENCODE regions | American journal of human genetics | | | 2008 | 626 | 0 |
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| A DNA resequencing array for pathogenic mutation detection in hypertrophic cardiomyopathy | Human mutation | | | 2008 | 760 | 0 |
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| Monozygotic twins discordant for trisomy 21 and maternal 21q inheritance: a complex series of events | American journal of medical genetics. Part A | | | 2008 | 736 | 4 |
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| Natural gene-expression variation in Down syndrome modulates the outcome of gene-dosage imbalance | American journal of human genetics | | | 2007 | 719 | 0 |
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| 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 | 719 | 0 |
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| Gene expression variation and expression quantitative trait mapping of human chromosome 21 genes | Human molecular genetics | | | 2005 | 611 | 0 |
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| Gene expression from the aneuploid chromosome in a trisomy mouse model of down syndrome | Genome research | | | 2004 | 581 | 0 |
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| 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 | 674 | 0 |
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| 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 | 697 | 0 |
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| Insertion of beta-satellite repeats identifies a transmembrane protease causing both congenital and childhood onset autosomal recessive deafness | Nature genetics | | | 2001 | 649 | 0 |
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| Axonemal beta heavy chain dynein DNAH9: cDNA sequence, genomic structure, and investigation of its role in primary ciliary dyskinesia | Genomics | | | 2001 | 647 | 1 |
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| No deleterious mutations in the FOXJ1 (alias HFH-4) gene in patients with primary ciliary dyskinesia (PCD) | Cytogenetics and cell genetics | | | 2000 | 682 | 0 |
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| 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 | 630 | 0 |
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| No evidence for linkage between schizophrenia and markers at chromosome 15q13-14 | American journal of medical genetics | | | 1999 | 470 | 0 |
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| Schizophrenia susceptibility loci on chromosomes 13q32 and 8p21 | Nature genetics | | | 1998 | 584 | 0 |
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| Loss of LKB1 kinase activity in Peutz-Jeghers syndrome, and evidence for allelic and locus heterogeneity | American journal of human genetics | | | 1998 | 583 | 0 |
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