| Molecular characterization of pathogenic OTOA gene conversions in hearing loss patients | Human Mutation |  | | 2021 | 381 | 527 |
|
| Bi-allelic loss of ERGIC1 causes relatively mild arthrogryposis | Clinical genetics |  | | 2021 | 171 | 114 |
|
| Experience of a multidisciplinary task force with exome sequencing for Mendelian disorders | Human genomics |  | | 2016 | 749 | 354 |
|
| HSA21 Single-Minded 2 (Sim2) Binding Sites Co-Localize with Super-Enhancers and Pioneer Transcription Factors in Pluripotent Mouse ES Cells | PloS one |  | | 2015 | 690 | 358 |
|
| A Case of Wiedemann-Steiner Syndrome Associated with a 46,XY Disorder of Sexual Development and Gonadal Dysgenesis | Sexual development | | | 2015 | 756 | 0 |
|
| DNA-Methylation Patterns in Trisomy 21 Using Cells from Monozygotic Twins | PloS one |  | | 2015 | 667 | 472 |
|
| Diagnostic exome sequencing to elucidate the genetic basis of likely recessive disorders in consanguineous families | Human mutation |  | | 2014 | 704 | 4 |
|
| Domains of genome-wide gene expression dysregulation in Down's syndrome | Nature |  | | 2014 | 710 | 2 |
|
| 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 |
|
| Extrachromosomal driver mutations in glioblastoma and low-grade glioma | Nature communications |  | | 2014 | 775 | 274 |
|
| TNPO3 protects HIV-1 replication from CPSF6-mediated capsid stabilization in the host cell cytoplasm | Retrovirology |  | | 2013 | 621 | 374 |
|
| Exome sequencing identifies putative drivers of progression of transient myeloproliferative disorder to AMKL in infants with Down syndrome | Blood |  | | 2013 | 682 | 0 |
|