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

door Prasad, Aparna, Sdano, Matthew A., Vanzo, Rena J., Mowery-Rushton, Patricia A., Serrano, Moises A., Hensel, Charles H., Wassman, E. Robert
Gepubliceerd in BMC Med Genet (2018)

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

door Vanzo, Rena J., Prasad, Aparna, Staunch, Lauren, Hensel, Charles H., Serrano, Moises A., Wassman, E. Robert, Kaplun, Alexander, Grandin, Temple, Boles, Richard G.
Gepubliceerd in J Pers Med (2020)

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

door 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.
Gepubliceerd in Int J Mol Sci (2016)

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

door 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
Gepubliceerd in Biomed Res Int (2016)

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

door 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
Gepubliceerd in J Med Genet (2016)

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

door 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.
Gepubliceerd in Sci Rep (2019)

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

door 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.
Gepubliceerd in Neurol Genet (2019)

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

door 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
Gepubliceerd in 2013

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

door 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
Gepubliceerd in 2014

A Major Predisposition Locus for Severe Obesity, at 4p15-p14

door Stone, Steven, Abkevich, Victor, Hunt, Steven C., Gutin, Alexander, Russell, Deanna L., Neff, Chris D., Riley, Robyn, Frech, Georges C., Hensel, Charles H., Jammulapati, Srikanth, Potter, Jennifer, Sexton, David, Tran, Thanh, Gibbs, Drew, Iliev, Diana, Gress, Richard, Bloomquist, Brian, Amatruda, John, Rae, Peter M. M., Adams, Ted D., Skolnick, Mark H., Shattuck, Donna
Gepubliceerd in 2002

Predisposition Locus for Major Depression at Chromosome 12q22-12q23.2

door Abkevich, Victor, Camp, Nicola J., Hensel, Charles H., Neff, Chris D., Russell, Deanna L., Hughes, Dana C., Plenk, Agnes M., Lowry, Michael R., Richards, R. Lynn, Carter, Catherine, Frech, Georges C., Stone, Steven, Rowe, Kerry, Chau, Chi Ai, Cortado, Kathleen, Hunt, Angelene, Luce, Karanina, O’Neil, Gayanne, Poarch, Jeff, Potter, Jennifer, Poulsen, Gregg H., Saxton, Heidi, Bernat-Sestak, Michelle, Thompson, Victor, Gutin, Alexander, Skolnick, Mark H., Shattuck, Donna, Cannon-Albright, Lisa
Gepubliceerd in 2003