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Sarah E. Soden

Children's Mercy Hospital
University of Missouri–Kansas City

39

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1918

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Clinical genome sequencing in an unbiased pediatric cohort

2019 Genetics in Medicine
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Parents of newborns in the NICU enrolled in genome sequencing research: hopeful, but not naïve

2019 Genetics in Medicine
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Incidental diagnosis of tuberous sclerosis complex by exome sequencing in three families with subclinical findings

2018 Neurogenetics
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Correction to: Incidental diagnosis of tuberous sclerosis complex by exome sequencing in three families with subclinical findings

2018 Neurogenetics
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Hypotonia and intellectual disability without dysmorphic features in a patient with PIGN-related disease

2017 BMC Medical Genetics
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In vivo characterization of CYP2D6*12, *29 and *84 using dextromethorphan as a probe drug: a case report

2017 Pharmacogenomics
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Constellation: a tool for rapid, automated phenotype assignment of a highly polymorphic pharmacogene,

2016
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PCDH19-related epileptic encephalopathy in a male mosaic for a truncating variant

2016 American Journal of Medical Genetics Part A
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Functional validation of novel compound heterozygous variants in B3GAT3 resulting in severe osteopenia and fractures: expanding the disease phenotype

2016 BMC Medical Genetics
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Erratum: Constellation: a tool for rapid, automated phenotype assignment of a highly polymorphic pharmacogene, CYP2D6, from whole-genome sequences.

2016 npj Genomic Medicine
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Citations (69)