REC, Drosophila MCM8, Drives Formation of Meiotic Crossovers

por Blanton, Hunter L, Radford, Sarah J, McMahan, Susan, Kearney, Hutton M, Ibrahim, Joseph G, Sekelsky, Jeff
Publicado 2005

Alström syndrome caused by maternal uniparental disomy

por Lopour, Madeline Q.R., Schimmenti, Lisa A., Boczek, Nicole J., Kearney, Hutton M., Drack, Arlene V., Brodsky, Michael C.
Publicado 2022

The Medical Genome Initiative: moving whole-genome sequencing for rare disease diagnosis to the clinic

por Marshall, Christian R., Bick, David, Belmont, John W., Taylor, Stacie L., Ashley, Euan, Dimmock, David, Jobanputra, Vaidehi, Kearney, Hutton M., Kulkarni, Shashikant, Rehm, Heidi
Publicado 2020

Prenatal characterization of a novel inverted SMAD2 duplication by mate pair sequencing in a fetus with dextrocardia

por Zepeda‐Mendoza, Cinthya J., Essendrup, Anna, Smoley, Stephanie A., Johnson, Sarah H., Hoppman, Nicole L, Vasmatzis, George, Jackson, Daniel L., Kearney, Hutton M., Baughn, Linda B.
Publicado 2020

Technical standards for the interpretation and reporting of constitutional copy number variants: a joint consensus recommendation of the American College of Medical Genetics and Ge...

por Riggs, Erin Rooney, Andersen, Erica F., Cherry, Athena M., Kantarci, Sibel, Kearney, Hutton, Patel, Ankita, Raca, Gordana, Ritter, Deborah I., South, Sarah T., Thorland, Erik C., Pineda-Alvarez, Daniel, Aradhya, Swaroop, Martin, Christa Lese
Publicado 2019

Best practices for the analytical validation of clinical whole-genome sequencing intended for the diagnosis of germline disease

por Marshall, Christian R., Chowdhury, Shimul, Taft, Ryan J., Lebo, Mathew S., Buchan, Jillian G., Harrison, Steven M., Rowsey, Ross, Klee, Eric W., Liu, Pengfei, Worthey, Elizabeth A., Jobanputra, Vaidehi, Dimmock, David, Kearney, Hutton M., Bick, David, Kulkarni, Shashikant, Taylor, Stacie L., Belmont, John W., Stavropoulos, Dimitri J., Lennon, Niall J.
Publicado 2020

Mate pair sequencing outperforms fluorescence in situ hybridization in the genomic characterization of multiple myeloma

por Smadbeck, James, Peterson, Jess F., Pearce, Kathryn E., Pitel, Beth A., Figueroa, Andrea Lebron, Timm, Michael, Jevremovic, Dragan, Shi, Min, Stewart, A. Keith, Braggio, Esteban, Riggs, Daniel L., Bergsagel, P. Leif, Vasmatzis, George, Kearney, Hutton M., Hoppman, Nicole L., Ketterling, Rhett P., Kumar, Shaji, Rajkumar, S. Vincent, Greipp, Patricia T., Baughn, Linda B.
Publicado 2019

Mate pair sequencing improves detection of genomic abnormalities in acute myeloid leukemia

por Aypar, Umut, Smoley, Stephanie A., Pitel, Beth A., Pearce, Kathryn E., Zenka, Roman M., Vasmatzis, George, Johnson, Sarah H., Smadbeck, James B., Peterson, Jess F., Geiersbach, Katherine B., Van Dyke, Daniel L., Thorland, Erik C., Jenkins, Robert B., Ketterling, Rhett P., Greipp, Patricia T., Kearney, Hutton M., Hoppman, Nicole L., Baughn, Linda B.
Publicado 2018

Best practices for the interpretation and reporting of clinical whole genome sequencing

por Austin-Tse, Christina A., Jobanputra, Vaidehi, Perry, Denise L., Bick, David, Taft, Ryan J., Venner, Eric, Gibbs, Richard A., Young, Ted, Barnett, Sarah, Belmont, John W., Boczek, Nicole, Chowdhury, Shimul, Ellsworth, Katarzyna A., Guha, Saurav, Kulkarni, Shashikant, Marcou, Cherisse, Meng, Linyan, Murdock, David R., Rehman, Atteeq U., Spiteri, Elizabeth, Thomas-Wilson, Amanda, Kearney, Hutton M., Rehm, Heidi L.
Publicado 2022