| Loss of Function Mutation in the Palmitoyl-Transferase HHAT Leads to Syndromic 46,XY Disorder of Sex Development by Impeding Hedgehog Protein Palmitoylation and Signaling | PLOS genetics |  | | 2014 | 730 | 337 |
|
| Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus | Nature |  | | 2011 | 813 | 2 |
|
