Nine de novo duplications affecting both maternal and paternal chromosomes and an inherited 15q11.2 deletion, in a patient with developmental delay

Por Tayeh, Marwan K, Rocco, Tracy, Ackley, Todd, Ernst, Leslie, Glover, Thomas, Innis, Jeffrey W
Publicado no Clin Case Rep (2015)

A Complex 6p25 Rearrangement in a Child With Multiple Epiphyseal Dysplasia

Por Bedoyan, Jirair K., Lesperance, Marci M., Ackley, Todd, Iyer, Ramaswamy K., Innis, Jeffrey W., Misra, Vinod K.
Publicado no Am J Med Genet A (2010)

Duplication 16p11.2 in a Child with Infantile Seizure Disorder

Por Bedoyan, Jirair K., Kumar, Ravinesh A., Sudi, Jyotsna, Silverstein, Faye, Ackley, Todd, Iyer, Ramaswamy K., Christian, Susan L., Martin, Donna M.
Publicado em 2010

Exome Capture and Massively Parallel Sequencing Identifies a Novel HPSE2 Mutation in a Saudi Arabian Child with Ochoa (Urofacial) Syndrome

Por Al Badr, Wisam, Al Bader, Suha, Otto, Edgar, Hildebrandt, Friedhelm, Ackley, Todd, Peng, Weiping, Xu, Jishu, Li, Jun, Owens, Kailey M., Bloom, David, Innis, Jeffrey W.
Publicado em 2011

Deletion 17q12 Is a Recurrent Copy Number Variant that Confers High Risk of Autism and Schizophrenia

Por Moreno-De-Luca, Daniel, Mulle, Jennifer G., Kaminsky, Erin B., Sanders, Stephan J., Myers, Scott M., Adam, Margaret P., Pakula, Amy T., Eisenhauer, Nancy J., Uhas, Kim, Weik, LuAnn, Guy, Lisa, Care, Melanie E., Morel, Chantal F., Boni, Charlotte, Salbert, Bonnie Anne, Chandrareddy, Ashadeep, Demmer, Laurie A., Chow, Eva W.C., Surti, Urvashi, Aradhya, Swaroop, Pickering, Diane L., Golden, Denae M., Sanger, Warren G., Aston, Emily, Brothman, Arthur R., Gliem, Troy J., Thorland, Erik C., Ackley, Todd, Iyer, Ram, Huang, Shuwen, Barber, John C., Crolla, John A., Warren, Stephen T., Martin, Christa L., Ledbetter, David H.
Publicado em 2010

Deletion 17q12 Is a Recurrent Copy Number Variant that Confers High Risk of Autism and Schizophrenia

Por Moreno-De-Luca, Daniel, Mulle, Jennifer G., Kaminsky, Erin B., Sanders, Stephan J., Myers, Scott M., Adam, Margaret P., Pakula, Amy T., Eisenhauer, Nancy J., Uhas, Kim, Weik, LuAnn, Guy, Lisa, Care, Melanie E., Morel, Chantal F., Boni, Charlotte, Salbert, Bonnie Anne, Chandrareddy, Ashadeep, Demmer, Laurie A., Chow, Eva W.C., Surti, Urvashi, Aradhya, Swaroop, Pickering, Diane L., Golden, Denae M., Sanger, Warren G., Aston, Emily, Brothman, Arthur R., Gliem, Troy J., Thorland, Erik C., Ackley, Todd, Iyer, Ram, Huang, Shuwen, Barber, John C., Crolla, John A., Warren, Stephen T., Martin, Christa L., Ledbetter, David H.
Publicado em 2011

An evidence-based approach to establish the functional and clinical significance of CNVs in intellectual and developmental disabilities

Por Kaminsky, Erin B., Kaul, Vineith, Paschall, Justin, Church, Deanna M., Bunke, Brian, Kunig, Dawn, Moreno-De-Luca, Daniel, Moreno-De-Luca, Andres, Mulle, Jennifer G., Warren, Stephen T., Richard, Gabriele, Compton, John G., Fuller, Amy E., Gliem, Troy J., Huang, Shuwen, Collinson, Morag N., Beal, Sarah J., Ackley, Todd, Pickering, Diane L., Golden, Denae M., Aston, Emily, Whitby, Heidi, Shetty, Shashirekha, Rossi, Michael R., Rudd, M. Katharine, South, Sarah T., Brothman, Arthur R., Sanger, Warren G., Iyer, Ramaswamy K., Crolla, John A., Thorland, Erik C., Aradhya, Swaroop, Ledbetter, David H., Martin, Christa L.
Publicado em 2011