NeuroSCORE is a genome-wide omics-based model that identifies candidate disease genes of the central nervous system

por Davis, Kyle W., Bilancia, Colleen G., Martin, Megan, Vanzo, Rena, Rimmasch, Megan, Hom, Yolanda, Uddin, Mohammed, Serrano, Moises A.
Publicado 2022

Clinical Utility of a Comprehensive, Whole Genome CMA Testing Platform in Pediatrics: A Prospective Randomized Controlled Trial of Simulated Patients in Physician Practices

por Peabody, John, Martin, Megan, DeMaria, Lisa, Florentino, Jhiedon, Paculdo, David, Paul, Michael, Vanzo, Rena, Wassman, E. Robert, Burgon, Trever
Publicado 2016

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

Analytical and Clinical Validity Study of FirstStepDx PLUS: A Chromosomal Microarray Optimized for Patients with Neurodevelopmental Conditions

por Hensel, Charles, Vanzo, Rena, Martin, Megan, Dixon, Sean, Lambert, Christophe, Levy, Brynn, Nelson, Lesa, Peiffer, Andy, Ho, Karen S., Rushton, Patricia, Serrano, Moises, South, Sarah, Ward, Kenneth, Wassman, Edward
Publicado 2017

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