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

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

Germline mutation rates in young adults predict longevity and reproductive lifespan

por Cawthon, Richard M., Meeks, Huong D., Sasani, Thomas A., Smith, Ken R., Kerber, Richard A., O’Brien, Elizabeth, Baird, Lisa, Dixon, Melissa M., Peiffer, Andreas P., Leppert, Mark F., Quinlan, Aaron R., Jorde, Lynn B.
Publicado 2020