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Clinical impact of additional findings detected by genome-wide non-invasive prenatal testing
TRIDENT-2: National Implementation of Genome-wide Non-invasive Prenatal Testing as a First-Tier Screening Test in the Netherlands
Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP
De novo and inherited loss-of-function variants of ATP2B2 are associated with rapidly progressive hearing impairment
MPZL2, Encoding the Epithelial Junctional Protein Myelin Protein Zero-like 2, Is Essential for Hearing in Man and Mouse
Heterozygous missense variants of LMX1A lead to nonsyndromic hearing impairment and vestibular dysfunction
Origin and clinical relevance of chromosomal aberrations other than the common trisomies detected by genome-wide NIPS: results of the TRIDENT study
Guidelines for diagnostic next-generation sequencing
Noninvasive prenatal diagnosis of Huntington disease: detection of the paternally inherited expanded CAG repeat in maternal plasma