Author
University of Washington
Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.
4 papers
Recent·Most cited
Nicola H. Chapman, Patrick A. Navas, Michael O. Dorschner…·Wendy H. Raskind
This study analyzes non-coding variants in five dyslexia candidate genes using targeted sequencing in large families, finding significant associations with reading and spelling traits but no large-effect coding variants.
Haowei Du, Ming Yin Lun, Lidiia Gagarina…·Claudia M.B. Carvalho
VizCNV is a tool for analyzing CNVs and phased BAF from trio genome sequencing data, identifying de novo and inherited CNVs in immunodeficiency cases.
Luis Fernandez-Luna, Carlos Aguilar-Perez, Christopher M. Grochowski…·Claudia G. Gonzaga-Jauregui
The paper characterizes intrachromosomal repeats in three human genome assemblies, finding more repeats in the T2T-CHM13 assembly and identifying gene categories enriched for repeat-associated genomic disorders.
Christopher M. Grochowski, Jesse D. Bengtsson, Haowei Du…·Claudia M.B. Carvalho
The paper investigates DUP-TRP/INV-DUP genomic rearrangements in neurodevelopmental disorders, identifying four SV haplotypes and refining template switching points using multiple sequencing technologies.