AV
| Title | Published in | Access level | OA Policy | Year | Views | Downloads | |
|---|---|---|---|---|---|---|---|
| Molecular characterization of pathogenic OTOA gene conversions in hearing loss patients | Human Mutation |  | 2021 | 376 | 417 | ||
| Bi-allelic loss of ERGIC1 causes relatively mild arthrogryposis | Clinical genetics | | 2021 | 165 | 87 | ||
| Experience of a multidisciplinary task force with exome sequencing for Mendelian disorders | Human genomics | | 2016 | 742 | 277 | ||
| HSA21 Single-Minded 2 (Sim2) Binding Sites Co-Localize with Super-Enhancers and Pioneer Transcription Factors in Pluripotent Mouse ES Cells | PloS one | | 2015 | 682 | 324 | ||
| A Case of Wiedemann-Steiner Syndrome Associated with a 46,XY Disorder of Sexual Development and Gonadal Dysgenesis | Sexual development | 2015 | 749 | 0 | |||
| DNA-Methylation Patterns in Trisomy 21 Using Cells from Monozygotic Twins | PloS one | | 2015 | 659 | 457 | ||
| Diagnostic exome sequencing to elucidate the genetic basis of likely recessive disorders in consanguineous families | Human mutation |  | 2014 | 697 | 4 | ||
| Domains of genome-wide gene expression dysregulation in Down's syndrome | Nature | | 2014 | 706 | 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 | 723 | 314 | ||
| Extrachromosomal driver mutations in glioblastoma and low-grade glioma | Nature communications | | 2014 | 771 | 244 | ||
| TNPO3 protects HIV-1 replication from CPSF6-mediated capsid stabilization in the host cell cytoplasm | Retrovirology | | 2013 | 616 | 281 | ||
| Exome sequencing identifies putative drivers of progression of transient myeloproliferative disorder to AMKL in infants with Down syndrome | Blood | | 2013 | 672 | 0 |
