Comparison of insertion/deletion calling algorithms on human next-generation sequencing data

Por Ghoneim, Dalia H, Myers, Jason R, Tuttle, Emily, Paciorkowski, Alex R
Publicado no BMC Res Notes (2014)

De Novo Mutations in SIK1 Cause a Spectrum of Developmental Epilepsies

Por Hansen, Jeanne, Snow, Chelsi, Tuttle, Emily, Ghoneim, Dalia H., Yang, Chun-Song, Spencer, Adam, Gunter, Sonya A., Smyser, Christopher D., Gurnett, Christina A., Shinawi, Marwan, Dobyns, William B., Wheless, James, Halterman, Marc W., Jansen, Laura A., Paschal, Bryce M., Paciorkowski, Alex R.
Publicado no Am J Hum Genet (2015)

De Novo Mutations in SIK1 Cause a Spectrum of Developmental Epilepsies

Por Hansen, Jeanne, Snow, Chelsi, Tuttle, Emily, Ghoneim, Dalia H., Yang, Chun-Song, Spencer, Adam, Gunter, Sonya A., Smyser, Christopher D., Gurnett, Christina A., Shinawi, Marwan, Dobyns, William B., Wheless, James, Halterman, Marc W., Jansen, Laura A., Paschal, Bryce M., Paciorkowski, Alex R.
Publicado no Am J Hum Genet (2015)

Novel mutations in ATP1A3 associated with catastrophic early life epilepsy, episodic prolonged apnea, and postnatal microcephaly

Por Paciorkowski, Alex R., McDaniel, Sharon S., Jansen, Laura A., Tully, Hannah, Tuttle, Emily, Ghoneim, Dalia H., Tupal, Srinivasan, Gunter, Sonya A., Vasta, Valeria, Zhang, Qing, Tran, Thao, Liu, Yi B., Ozelius, Laurie J., Brashear, Allison, Sweadner, Kathleen J., Dobyns, William B., Hahn, Si Houn
Publicado no Epilepsia (2015)