Microdeletion of 6q16.1 encompassing EPHA7 in a child with mild neurological abnormalities and dysmorphic features: case report

द्वारा Traylor, Ryan N, Fan, Zheng, Hudson, Beth, Rosenfeld, Jill A, Shaffer, Lisa G, Torchia, Beth S, Ballif, Blake C
प्रकाशित 2009

Proximal microdeletions and microduplications of 1q21.1 contribute to variable abnormal phenotypes

द्वारा Rosenfeld, Jill A, Traylor, Ryan N, Schaefer, G Bradley, McPherson, Elizabeth W, Ballif, Blake C, Klopocki, Eva, Mundlos, Stefan, Shaffer, Lisa G, Aylsworth, Arthur S
प्रकाशित 2012

Paternally inherited microdeletion at 15q11.2 confirms a significant role for the SNORD116 C/D box snoRNA cluster in Prader–Willi syndrome

द्वारा Duker, Angela L, Ballif, Blake C, Bawle, Erawati V, Person, Richard E, Mahadevan, Sangeetha, Alliman, Sarah, Thompson, Regina, Traylor, Ryan, Bejjani, Bassem A, Shaffer, Lisa G, Rosenfeld, Jill A, Lamb, Allen N, Sahoo, Trilochan
प्रकाशित 2010

A Genotype-First Approach for the Molecular and Clinical Characterization of Uncommon De Novo Microdeletion of 20q13.33

द्वारा Traylor, Ryan N., Bruno, Damien L., Burgess, Trent, Wildin, Robert, Spencer, Anne, Ganesamoorthy, Devika, Amor, David J., Hunter, Matthew, Caplan, Michael, Rosenfeld, Jill A., Theisen, Aaron, Torchia, Beth S., Shaffer, Lisa G., Ballif, Blake C., Slater, Howard R.
प्रकाशित 2010

MEF2C Haploinsufficiency features consistent hyperkinesis, variable epilepsy, and has a role in dorsal and ventral neuronal developmental pathways

द्वारा Paciorkowski, Alex R., Traylor, Ryan N., Rosenfeld, Jill A., Hoover, Jacqueline M., Harris, Catharine J., Winter, Susan, Lacassie, Yves, Bialer, Martin, Lamb, Allen N., Schultz, Roger A., Berry-Kravis, Elizabeth, Porter, Brenda E., Falk, Marni, Venkat, Anu, Vanzo, Rena J., Cohen, Julie S., Fatemi, Ali, Dobyns, William B., Shaffer, Lisa G., Ballif, Blake C., Marsh, Eric D.
प्रकाशित 2013

Identification of a Recurrent Microdeletion at 17q23.1q23.2 Flanked by Segmental Duplications Associated with Heart Defects and Limb Abnormalities

द्वारा Ballif, Blake C., Theisen, Aaron, Rosenfeld, Jill A., Traylor, Ryan N., Gastier-Foster, Julie, Thrush, Devon Lamb, Astbury, Caroline, Bartholomew, Dennis, McBride, Kim L., Pyatt, Robert E., Shane, Kate, Smith, Wendy E., Banks, Valerie, Gallentine, William B., Brock, Pamela, Rudd, M. Katharine, Adam, Margaret P., Keene, Julia A., Phillips, John A., Pfotenhauer, Jean P., Gowans, Gordon C., Stankiewicz, Pawel, Bejjani, Bassem A., Shaffer, Lisa G.
प्रकाशित 2010