Author
Clinic for Special ChildrenORCID 0000-0002-6388-9148Unclaimed ORCID profile · follow to get notified of new preprints
Mutual co-authors in cluster
3 papers
Recent·Most cited
Yingxi Wang, Eleanor I. Sams, Rachel Slaugh…·Tychele N. Turner
This study uses whole-genome sequencing to analyze 9p deletion and duplication syndromes, identifying key genes and structural variants, and introduces a machine learning model for syndrome prediction.
Philip H. Iffland, Mariah E. Everett, Katherine Cobb-Pitstick…·Peter B. Crino
The paper investigates NPRL3 variants' effects on mTOR signaling, cortical development, and epilepsy by using CRISPR/Cas9 knockout in cell lines and mice, showing mTOR hyperactivation and cortical dyslamination.
Evan K. Maxwell, Claudia G. Gonzaga-Jauregui, Shane McCarthy…·Jeffrey G. Reid
KaryoScan detects chromosomal anomalies from whole-exome sequencing, identifying aneuploidies and complex rearrangements in large cohorts.