Isolated Sagittal Synostosis in a Boy with Craniofrontonasal Dysplasia and a Novel EFNB1 Mutation

par Chauhan, Bharesh K., Hoover, Jacqueline M., Scanga, Hannah, Medsinge, Anagha, Arnold, Georgianne L., Nischal, Ken K.
Publié dans Plast Reconstr Surg Glob Open (2015)

The intronic BRCA1 c.5407-25T>A variant causing partly skipping of exon 23—a likely pathogenic variant with reduced penetrance?

par Høberg-Vetti, Hildegunn, Ognedal, Elisabet, Buisson, Adrien, Vamre, Tone Bøe Aaman, Ariansen, Sarah, Hoover, Jacqueline M., Eide, Geir Egil, Houge, Gunnar, Fiskerstrand, Torunn, Haukanes, Bjørn Ivar, Bjorvatn, Cathrine, Knappskog, Per Morten
Publié dans Eur J Hum Genet (2020)

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

par 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.
Publié 2013