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| The complex SNP and CNV genetic architecture of the increased risk of congenital heart defects in Down syndrome | Genome research | | | 2013 | 758 | 740 |
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| MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study | Clinical genetics |  | | 2013 | 689 | 2 |
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| Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus | Nature | | | 2011 | 820 | 2 |
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| Williams-Beuren syndrome TRIM50 encodes an E3 ubiquitin ligase | European journal of human genetics | | | 2008 | 648 | 0 |
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| Two high throughput technologies to detect segmental aneuploidies identify new Williams-Beuren syndrome patients with atypical deletions | Journal of medical genetics | | | 2006 | 709 | 0 |
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| Submicroscopic deletion in patients with Williams-Beuren syndrome influences expression levels of the nonhemizygous flanking genes | American journal of human genetics | | | 2006 | 699 | 0 |
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| 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 |
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| Detection of aneuploidies by paralogous sequence quantification | Journal of medical genetics | | | 2004 | 544 | 0 |
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| Asp1424Asn MYH9 mutation results in an unstable protein responsible for the phenotypes in May-Hegglin anomaly/Fechtner syndrome | Blood | | | 2003 | 677 | 0 |
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