Prenatal cell‐free DNA screening is widely used to assess the risk of fetal trisomy 21, 18, and 13. Although commercial and laboratory‐developed tests (LDTs) show high accuracy in validation studies, real‐world longitudinal performance data are lacking.
Armelle Duquenne, N. Brison, I. Parijs et al.· Prenatal Diagnosis· 0 citations
Filamin C (FLNC) contributes to 1%-8% of adult-onset cardiomyopathy (CMP), with a high prevalence of end-stage heart failure and sudden cardiac death, particularly for FLNC truncating variants (FLNCtv), rendering it one of the high-risk CMP genes. Outcome data and genotype-phenotype correlation in children are scarce....
Evelien Cansse, W. Renders, L. Bruyndonckx et al.· Clinical Genetics· 0 citations
This represents the most comprehensive characterization to date of TRND, a novel neurodevelopmental disorder, defining its genotypic and phenotypic spectrum.
Sally Nijim, Mimi Kim, Melissa Denish et al.· Genetics in Medicine· 1 citation
It is demonstrated that RBMX and RBMXL1 share protein and RNA partners and act redundantly in brain development, with RBMXL1 buffering the impact of RBMX deficiency and establishing RBMXL1 as a functional paralog of RBMX that is likely buffering deleterious variation in a context- and dosage-dependent manner.
P. Tilliole, C. Mattausch, Peggy Tilly et al.· Brain : a journal of neurolo...· 0 citations
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