Clinical utility of exome sequencing in individuals with large homozygous regions detected by chromosomal microarray analysis

por Prasad, Aparna, Sdano, Matthew A., Vanzo, Rena J., Mowery-Rushton, Patricia A., Serrano, Moises A., Hensel, Charles H., Wassman, E. Robert
Publicado 2018

The Temple Grandin Genome: Comprehensive Analysis in a Scientist with High-Functioning Autism

por Vanzo, Rena J., Prasad, Aparna, Staunch, Lauren, Hensel, Charles H., Serrano, Moises A., Wassman, E. Robert, Kaplun, Alexander, Grandin, Temple, Boles, Richard G.
Publicado 2020

Chromosomal Microarray Analysis of Consecutive Individuals with Autism Spectrum Disorders Using an Ultra-High Resolution Chromosomal Microarray Optimized for Neurodevelopmental Dis...

por Ho, Karen S., Wassman, E. Robert, Baxter, Adrianne L., Hensel, Charles H., Martin, Megan M., Prasad, Aparna, Twede, Hope, Vanzo, Rena J., Butler, Merlin G.
Publicado 2016

Clinical Performance of an Ultrahigh Resolution Chromosomal Microarray Optimized for Neurodevelopmental Disorders

por Ho, Karen S., Twede, Hope, Vanzo, Rena, Harward, Erin, Hensel, Charles H., Martin, Megan M., Page, Stephanie, Peiffer, Andreas, Mowery-Rushton, Patricia, Serrano, Moises, Wassman, E. Robert
Publicado 2016

Chromosomal microarray testing identifies a 4p terminal region associated with seizures in Wolf–Hirschhorn syndrome

por Ho, Karen S, South, Sarah T, Lortz, Amanda, Hensel, Charles H, Sdano, Mallory R, Vanzo, Rena J, Martin, Megan M, Peiffer, Andreas, Lambert, Christophe G, Calhoun, Amy, Carey, John C, Battaglia, Agatino
Publicado 2016

Abnormally Methylated FMR1 in Absence of a Detectable Full Mutation in a U.S.A Patient Cohort Referred for Fragile X Testing

por Hensel, Charles H., Vanzo, Rena J., Martin, Megan M., Ling, Ling, Aliaga, Solange M., Bui, Minh, Francis, David I., Twede, Hope, Field, Michael H., Morison, Jonathon W., Amor, David J., Godler, David E.
Publicado 2019

Critical exon indexing improves clinical interpretation of copy number variants in neurodevelopmental disorders

por Wassman, E. Robert, Ho, Karen S., Bertrand, Diana, Davis, Kyle W., Martin, Megan M., Page, Stephanie, Peiffer, Andreas, Prasad, Aparna, Serrano, Moises A., Twede, Hope, Vanzo, Rena, Scherer, Stephen W., Uddin, Mohammed, Hensel, Charles H.
Publicado 2019

Identification of Rare Recurrent Copy Number Variants in High-Risk Autism Families and Their Prevalence in a Large ASD Population

por Matsunami, Nori, Hadley, Dexter, Hensel, Charles H., Christensen, G. Bryce, Kim, Cecilia, Frackelton, Edward, Thomas, Kelly, da Silva, Renata Pellegrino, Stevens, Jeff, Baird, Lisa, Otterud, Brith, Ho, Karen, Varvil, Tena, Leppert, Tami, Lambert, Christophe G., Leppert, Mark, Hakonarson, Hakon
Publicado 2013

Identification of rare DNA sequence variants in high-risk autism families and their prevalence in a large case/control population

por Matsunami, Nori, Hensel, Charles H, Baird, Lisa, Stevens, Jeff, Otterud, Brith, Leppert, Tami, Varvil, Tena, Hadley, Dexter, Glessner, Joseph T, Pellegrino, Renata, Kim, Cecilia, Thomas, Kelly, Wang, Fengxiang, Otieno, Frederick G, Ho, Karen, Christensen, Gerald B, Li, Dongying, Prekeris, Rytis, Lambert, Christophe G, Hakonarson, Hakon, Leppert, Mark F
Publicado 2014