GM
| Title | Published in | Access level | OA Policy | Year | Views | Downloads | |
|---|---|---|---|---|---|---|---|
| GNB5 Mutations Cause an Autosomal-Recessive Multisystem Syndrome with Sinus Bradycardia and Cognitive Disability | American journal of human genetics |  | 2016 | 696 | 532 | ||
| The complex SNP and CNV genetic architecture of the increased risk of congenital heart defects in Down syndrome | Genome research | | 2013 | 749 | 645 | ||
| MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study | Clinical genetics |  | 2013 | 680 | 2 | ||
| Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus | Nature | | 2011 | 811 | 2 | ||
| Williams-Beuren syndrome TRIM50 encodes an E3 ubiquitin ligase | European journal of human genetics | | 2008 | 640 | 0 | ||
| Two high throughput technologies to detect segmental aneuploidies identify new Williams-Beuren syndrome patients with atypical deletions | Journal of medical genetics | | 2006 | 701 | 0 | ||
| Submicroscopic deletion in patients with Williams-Beuren syndrome influences expression levels of the nonhemizygous flanking genes | American journal of human genetics | | 2006 | 691 | 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 | 607 | 0 | ||
| Detection of aneuploidies by paralogous sequence quantification | Journal of medical genetics | | 2004 | 536 | 0 | ||
| Asp1424Asn MYH9 mutation results in an unstable protein responsible for the phenotypes in May-Hegglin anomaly/Fechtner syndrome | Blood | | 2003 | 669 | 0 |
