Carol Saunders

Androgens mediate sexual dimorphism in Pilarowski-Bjornsson Syndrome

The paper investigates sex-specific penetrance in PILBOS, showing male overrepresentation and androgen-mediated sexual dimorphism through genetic and mouse model studies.

Variants in NR6A1 as a cause for congenital renal, vertebral and uterine anomalies

The paper identifies NR6A1 variants as a cause of congenital renal, vertebral, and uterine anomalies through clinical and zebrafish model studies.

Basic helix-loop-helix transcription factor BHLHE22 monoallelic and biallelic variants cause a neurodevelopmental disorder with agenesis of the corpus callosum, intellectual disability, tone and movement abnormalities

The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change

The paper analyzes VUS rates in genetic testing and finds lower rates in exome/genome sequencing compared to multi-gene panels, suggesting improvements in variant reporting practices.

Genomic answers for children: Dynamic analyses of >1000 pediatric rare disease genomes

The paper presents diagnostic analyses of 960 pediatric rare disease families using genomic sequencing and machine learning, finding higher diagnostic rates with long-read sequencing and highlighting challenges in variant interpretation.

High throughput Characterization of KCNB1 variants Associated with Developmental and Epileptic Encephalopathy

This study evaluates 17 KCNB1 variants associated with DEE and NDD using high-throughput assays to identify functional defects in Kv2.1 channels.