<style face="normal" font="default" size="100%">Germline mutation in : a heterogeneous, multi-systemic developmental disorder characterized by transcriptional dysregulation.</style>

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<style face="normal" font="default" size="100%">Germline mutation in : a heterogeneous, multi-systemic developmental disorder characterized by transcriptional dysregulation.</style>

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<style face="normal" font="default" size="100%">Mapping and characterization of structural variation in 17,795 human genomes.</style>

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<style face="normal" font="default" size="100%">Next Generation Sequencing of 134 Children with Autism Spectrum Disorder and Regression.</style>

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<style face="normal" font="default" size="100%">Phenotypic expansion in KIF1A-related dominant disorders: A description of novel variants and review of published cases.</style>

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<style face="normal" font="default" size="100%">Atlas-CNV: a validated approach to call single-exon CNVs in the eMERGESeq gene panel.</style>

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<style face="normal" font="default" size="100%">Insights into genetics, human biology and disease gleaned from family based genomic studies.</style>

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<style face="normal" font="default" size="100%">Characterizing reduced coverage regions through comparison of exome and genome sequencing data across 10 centers.</style>

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<style face="normal" font="default" size="100%">Exome sequencing reveals novel genetic loci influencing obesity-related traits in Hispanic children.</style>

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<style face="normal" font="default" size="100%">Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation.</style>