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Association of deep phenotyping with diagnostic yield of prenatal exome sequencing for fetal brain abnormalities

Kathleen Drexler, Asha N. Talati, Kelly L. Gilmore, Rachel V. Veazey, Bradford C. Powell, Karen E. Weck, Erica E. Davis, Neeta L. Vora

2023Genetics in Medicine10 citationsDOIOpen Access PDF

Topics & Concepts

MedicineExome sequencingMagnetic resonance imagingNeural tubeNeural tube defectPrenatal diagnosisExomeFetusPhenotypePathologyBioinformaticsRadiologyGeneticsPregnancyBiologyEmbryoGeneGenomics and Rare DiseasesFetal and Pediatric Neurological DisordersPrenatal Screening and Diagnostics
Association of deep phenotyping with diagnostic yield of prenatal exome sequencing for fetal brain abnormalities | Litcius