Arthur L. Beaudet

This study validates a noninvasive prenatal genetic test using single trophoblast analysis, showing high concordance with CVS/amniocentesis for aneuploidy and deletions/duplications.

This study shows that reducing Ube3a-ATS with antisense oligonucleotides rescues EEG rhythms and sleep in Angelman syndrome mouse models, suggesting a broader therapeutic window than previously believed.

The paper describes the role of the Centers for Mendelian Genomics in advancing gene discovery through data sharing, collaboration, and resource development over the past decade.

This study examines the effects of Ube3a gene dosage on circadian rhythms and sleep in Angelman syndrome mouse models, finding altered locomotor activity and sleep patterns.

This paper describes a method using amplicon-based sequencing to identify fetal cells and detect monogenic mutations in single circulating trophoblast cells for non-invasive prenatal testing.

The paper reports the generation of over 5,000 new mouse mutant strains for targeted genes, significantly expanding the available genetic resources for biomedical research.

The paper integrates gene essentiality data from human and mouse screens to classify genes into FUSIL categories, identifying developmental lethal genes associated with rare diseases.

The paper reports exome sequencing of 457 ASD families, identifying 10.4% with known ASD genes and 3.4% with possibly associated variants, and provides statistical support for 34 ASD risk genes using the TADA framework.

This study tests CRISPR/Cas9 with ssODNs and lssODNs for generating conditional knockout alleles in mice, finding higher efficiency with lssODNs.