Publications
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[ Author] Title Year Filters: Keyword is Whole Genome Sequencing [Clear All Filters]
Mapping and characterization of structural variation in 17,795 human genomes. Nature 583, 83-89 (2020).
Identification of novel candidate disease genes from de novo exonic copy number variants. Genome Med 9, 83 (2017).
Contribution of noncoding pathogenic variants to RPGRIP1-mediated inherited retinal degeneration. Genet Med 21, 694-704 (2019).
The mutational constraint spectrum quantified from variation in 141,456 humans. Nature 581, 434-443 (2020).
PEHO syndrome caused by compound heterozygote variants in ZNHIT3 gene. Eur J Med Genet 63, 103660 (2020).
Disruptions in asymmetric centrosome inheritance and WDR62-Aurora kinase B interactions in primary microcephaly. Sci Rep 7, 43708 (2017).
Whole-genome sequencing of African Americans implicates differential genetic architecture in inflammatory bowel disease. Am J Hum Genet 108, 431-445 (2021).
Deletion of CTCF sites in the SHH locus alters enhancer-promoter interactions and leads to acheiropodia. Nat Commun 12, 2282 (2021).