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| Deciphering Cell Lineage Specification during Male Sex Determination with Single-Cell RNA Sequencing | Cell Reports | | | 2018 | 463 | 563 |
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| Systematic proteome and proteostasis profiling in human Trisomy 21 fibroblast cells | Nature Communications | | | 2017 | 506 | 667 |
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| The genomic landscape of human cellular circadian variation points to a novel role for the signalosome | eLife | | | 2017 | 446 | 257 |
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| Opposite phenotypes of muscle strength and locomotor function in mouse models of partial trisomy and monosomy 21 for the proximal Hspa13-App region | PLOS genetics | | | 2015 | 619 | 293 |
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| Biased allelic expression in human primary fibroblast single cells | American journal of human genetics | | | 2015 | 612 | 0 |
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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 | 756 | 0 |
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| DNA-Methylation Patterns in Trisomy 21 Using Cells from Monozygotic Twins | PloS one | | | 2015 | 667 | 472 |
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| Domains of genome-wide gene expression dysregulation in Down's syndrome | Nature | | | 2014 | 710 | 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 | 730 | 337 |
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| Germ cell-specific targeting of DICER or DGCR8 reveals a novel role for endo-siRNAs in the progression of mammalian spermatogenesis and male fertility | PloS one | | | 2014 | 492 | 257 |
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| DYRK1A-dosage imbalance perturbs NRSF/REST levels, deregulating pluripotency and embryonic stem cell fate in Down syndrome | American journal of human genetics | | | 2008 | 649 | 0 |
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| Synaptojanin 1-linked phosphoinositide dyshomeostasis and cognitive deficits in mouse models of Down's syndrome | Proceedings of the National Academy of Sciences of the United States of America | | | 2008 | 577 | 0 |
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| Human microRNA-155 on chromosome 21 differentially interacts with its polymorphic target in the AGTR1 3' untranslated region: a mechanism for functional single-nucleotide polymorphisms related to phenotypes | American journal of human genetics | | | 2007 | 720 | 0 |
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| Peutz-Jeghers LKB1 mutants fail to activate GSK-3beta, preventing it from inhibiting Wnt signaling | Molecular genetics and genomics | | | 2005 | 610 | 479 |
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