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- PMID: 35491439
- DOI: 10.1002/uog.24902
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Beyond diagnostic yield: use of exome sequencing in prenatal diagnosis.Ultrasound Obstet Gynecol. 2022 May;59(5):697-698. doi: 10.1002/uog.24901. Ultrasound Obstet Gynecol. 2022. PMID: 35491440 No abstract available.
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- International Society for Prenatal Diagnosis; Society for Maternal and Fetal Medicine; Perinatal Quality Foundation. Joint Position Statement from the International Society for Prenatal Diagnosis (ISPD), the Society for Maternal Fetal Medicine (SMFM), and the Perinatal Quality Foundation (PQF) on the use of genome-wide sequencing for fetal diagnosis. Prenat Diagn 2018; 38: 6-9.
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- Levy SE, Myers RM. Advancements in next-generation sequencing. Ann Rev Genomics Hum Genet 2016; 17: 95-115.
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- Xue Y, Ankala A, Wilcox WR, Hegde MR. Solving the molecular diagnostic testing conundrum for Mendelian disorders in the era of next-generation sequencing: single-gene, gene panel, or exome/genome sequencing. Genet Med 2015; 17: 444-451.
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