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Farrow, Emily

One or more keywords matched the following items that are connected to Farrow, Emily

Item Type	Name
Concept	Phenotype
Academic Article	Functional validation of novel compound heterozygous variants in B3GAT3 resulting in severe osteopenia and fractures: expanding the disease phenotype.
Academic Article	Constellation: a tool for rapid, automated phenotype assignment of a highly polymorphic pharmacogene, CYP2D6, from whole-genome sequences.
Academic Article	Erratum: Constellation: a tool for rapid, automated phenotype assignment of a highly polymorphic pharmacogene, CYP2D6, from whole-genome sequences.
Academic Article	Clinical genome sequencing in an unbiased pediatric cohort.
Academic Article	De novo frameshift mutation in ASXL3 in a patient with global developmental delay, microcephaly, and craniofacial anomalies.
Academic Article	Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders.
Academic Article	PCDH19-related epileptic encephalopathy in a male mosaic for a truncating variant.
Academic Article	Incidental diagnosis of tuberous sclerosis complex by exome sequencing in three families with subclinical findings.
Academic Article	A case of Robin sequence, microgastria, radiohumeral synostosis, femoral deficiency, and other unusual findings: a newly recognized syndrome?
Academic Article	Iron deficiency drives an autosomal dominant hypophosphatemic rickets (ADHR) phenotype in fibroblast growth factor-23 (Fgf23) knock-in mice.
Academic Article	Circulating aKlotho influences phosphate handling by controlling FGF23 production.
Academic Article	Matchmaking facilitates the diagnosis of an autosomal-recessive mitochondrial disease caused by biallelic mutation of the tRNA isopentenyltransferase (TRIT1) gene.
Academic Article	Whole-exome sequencing identified a variant in EFTUD2 gene in establishing a genetic diagnosis.
Academic Article	Novel heterozygous pathogenic variants in CHUK in a patient with AEC-like phenotype, immune deficiencies and 1q21.1 microdeletion syndrome: a case report.
Academic Article	Neonatal progeriod syndrome associated with biallelic truncating variants in POLR3A.
Academic Article	Pathogenic variants in KPTN gene identified by clinical whole-genome sequencing.
Academic Article	Elucidating the clinical spectrum and molecular basis of HYAL2 deficiency.
Academic Article	Phenotypic expansion and variable expressivity in individuals with JARID2-related intellectual disability: A case series.
Academic Article	Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype.
Academic Article	Significance Associated with Phenotype Score Aids in Variant Prioritization for Exome Sequencing Analysis.

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