Atypical rearrangement involving 3′-IGH@ and a breakpoint at least 400 Kb upstream of an intact MYC in a CLL patient with an apparently balanced t(8;14)(q24.1;q32) and negative MYC...

por Amarillo, Ina, Bui, Peter H, Kantarci, Sibel, Rao, Nagesh, Shackley, Brit S, García, Rolando, Tirado, Carlos A
Publicado 2013

Coupling clinical exome sequencing with functional characterization studies to diagnose a patient with familial Mediterranean fever and MED13L haploinsufficiency syndromes

por Mullegama, Sureni V., Jensik, Phillip, Li, Chen, Dorrani, Naghmeh, Kantarci, Sibel, Blumberg, Bruce, Grody, Wayne W., Strom, Samuel P.
Publicado 2017

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