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Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation. N Engl J Med 376, 21-31 (2017).
Phenotypic expansion in KIF1A-related dominant disorders: A description of novel variants and review of published cases. Hum Mutat 41, 2094-2104 (2020).
Next Generation Sequencing of 134 Children with Autism Spectrum Disorder and Regression. Genes (Basel) 11, (2020).
Mapping and characterization of structural variation in 17,795 human genomes. Nature 583, 83-89 (2020).
Insights into genetics, human biology and disease gleaned from family based genomic studies. Genet Med 21, 798-812 (2019).
Exome sequencing reveals novel genetic loci influencing obesity-related traits in Hispanic children. Obesity (Silver Spring) 25, 1270-1276 (2017).
Characterizing reduced coverage regions through comparison of exome and genome sequencing data across 10 centers. Genet Med 20, 855-866 (2018).
Atlas-CNV: a validated approach to call single-exon CNVs in the eMERGESeq gene panel. Genet Med 21, 2135-2144 (2019).