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| Bi-allelic loss of ERGIC1 causes relatively mild arthrogryposis | Clinical genetics |  | | 2021 | 175 | 124 |
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| Experience of a multidisciplinary task force with exome sequencing for Mendelian disorders | Human genomics |  | | 2016 | 755 | 364 |
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| HSA21 Single-Minded 2 (Sim2) Binding Sites Co-Localize with Super-Enhancers and Pioneer Transcription Factors in Pluripotent Mouse ES Cells | PloS one |  | | 2015 | 697 | 366 |
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| A Case of Wiedemann-Steiner Syndrome Associated with a 46,XY Disorder of Sexual Development and Gonadal Dysgenesis | Sexual development | | | 2015 | 762 | 0 |
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| DNA-Methylation Patterns in Trisomy 21 Using Cells from Monozygotic Twins | PloS one |  | | 2015 | 674 | 478 |
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| Diagnostic exome sequencing to elucidate the genetic basis of likely recessive disorders in consanguineous families | Human mutation |  | | 2014 | 710 | 4 |
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| Domains of genome-wide gene expression dysregulation in Down's syndrome | Nature |  | | 2014 | 718 | 2 |
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| 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 | 736 | 343 |
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| Extrachromosomal driver mutations in glioblastoma and low-grade glioma | Nature communications |  | | 2014 | 781 | 297 |
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| TNPO3 protects HIV-1 replication from CPSF6-mediated capsid stabilization in the host cell cytoplasm | Retrovirology |  | | 2013 | 627 | 410 |
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| Exome sequencing identifies putative drivers of progression of transient myeloproliferative disorder to AMKL in infants with Down syndrome | Blood |  | | 2013 | 688 | 0 |
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