| GNB5 Mutations Cause an Autosomal-Recessive Multisystem Syndrome with Sinus Bradycardia and Cognitive Disability | American journal of human genetics |  | | 2016 | 698 | 641 |
|
| The complex SNP and CNV genetic architecture of the increased risk of congenital heart defects in Down syndrome | Genome research | | | 2013 | 751 | 692 |
|
| MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study | Clinical genetics |  | | 2013 | 682 | 2 |
|
| Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus | Nature | | | 2011 | 813 | 2 |
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| Williams-Beuren syndrome TRIM50 encodes an E3 ubiquitin ligase | European journal of human genetics | | | 2008 | 642 | 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 | 703 | 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 | 693 | 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 | 609 | 0 |
|
| Detection of aneuploidies by paralogous sequence quantification | Journal of medical genetics | | | 2004 | 538 | 0 |
|
| Asp1424Asn MYH9 mutation results in an unstable protein responsible for the phenotypes in May-Hegglin anomaly/Fechtner syndrome | Blood | | | 2003 | 671 | 0 |
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