Challenges in variant interpretation in prenatal exome sequencing

Author:

Basel-Salmon Lina,Sukenik-Halevy Rivka

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics,General Medicine

Reference33 articles.

1. Current controversies in prenatal diagnosis 2: the 59 genes ACMG recommends reporting as secondary findings when sequencing postnatally should be reported when detected on fetal (and parental) sequencing;Amor;Prenat. Diagn.,2020

2. Whole exome sequencing of fetal structural anomalies detected by ultrasonography;Aoi;J. Hum. Genet.,2020

3. When phenotype does not match genotype: importance of "real-time" refining of phenotypic information for exome data interpretation;Basel-Salmon;Genet. Med. : Off. J. Am. Coll. of Med. Genet.,2020

4. Cytogenetic follow-up of chromosomal mosaicism detected in first-trimester prenatal diagnosis;Battaglia;Prenat. Diagn.,2014

5. CACNA1H variants are not a cause of monogenic epilepsy;Calhoun;Hum. Mutat.,2020

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