BAC-FISH refutes report of an 8p22–8p23.1 inversion or duplication in 8 patients with Kabuki syndrome

por Kimberley, Kendra W, Morris, Colleen A, Hobart, Holly H
Publicado 2006

Frequency of the 7q11.23 inversion polymorphism in transmitting parents of children with Williams syndrome and in the general population does not differ between North America and E...

por Morris, Colleen A, Mervis, Carolyn B, Osborne, Lucy R
Publicado 2011

DNA methylation profiles in individuals with rare, atypical 7q11.23 CNVs correlate with GTF2I and GTF2IRD1 copy number

por Strong, Emma, Mervis, Carolyn B., Tam, Elaine, Morris, Colleen A., Klein-Tasman, Bonita P., Velleman, Shelley L., Osborne, Lucy R.
Publicado 2023

Rare and low frequency genomic variants impacting neuronal functions modify the Dup7q11.23 phenotype

por Qaiser, Farah, Yin, Yue, Mervis, Carolyn B., Morris, Colleen A., Klein-Tasman, Bonita P., Tam, Elaine, Osborne, Lucy R., Yuen, Ryan K. C.
Publicado 2021

Genome Rearrangements Detected by SNP Microarrays in Individuals with Intellectual Disability Referred with Possible Williams Syndrome

por Pani, Ariel M., Hobart, Holly H., Morris, Colleen A., Mervis, Carolyn B., Bray-Ward, Patricia, Kimberley, Kendra W., Rios, Cecilia M., Clark, Robin C., Gulbronson, Maricela D., Gowans, Gordon C., Gregg, Ronald G.
Publicado 2010

Dorsal visual stream and LIMK1: hemideletion, haplotype, and enduring effects in children with Williams syndrome

por Kippenhan, J. Shane, Gregory, Michael D., Nash, Tiffany, Kohn, Philip, Mervis, Carolyn B., Eisenberg, Daniel P., Garvey, Madeline H., Roe, Katherine, Morris, Colleen A., Kolachana, Bhaskar, Pani, Ariel M., Sorcher, Leah, Berman, Karen F.
Publicado 2023