A window into living with an undiagnosed disease: illness narratives from the Undiagnosed Diseases Network

Por Spillmann, Rebecca C., McConkie-Rosell, Allyn, Pena, Loren, Jiang, Yong-Hui, Schoch, Kelly, Walley, Nicole, Sanders, Camilla, Sullivan, Jennifer, Hooper, Stephen R., Shashi, Vandana
Publicado no Orphanet J Rare Dis (2017)

Quinidine in the Treatment of KCNT1-Positive Epilepsies

Por Mikati, Mohamad A, Jiang, Yong-hui, Carboni, Michael, Shashi, Vandana, Petrovski, Slave, Spillmann, Rebecca, Milligan, Carol J., Li, Melody, Grefe, Annette, McConkie, Allyn, Berkovic, Samuel, Scheffer, Ingrid, Mullen, Saul, Bonner, Melanie, Petrou, Steven, Goldstein, David
Publicado no Ann Neurol (2015)

Neonatal Non-Epileptic Myoclonus is a Prominent Clinical Feature of KCNQ2 Gain-of-Function Variants R201C and R201H

Por Mulkey, Sarah B., Ben-Zeev, Bruria, Nicolai, Joost, Carroll, John L., Grønborg, Sabine, Jiang, Yong-hui, Joshi, Nishtha, Kelly, Megan, Koolen, David. A., Mikati, Mohamad A., Park, Kristen, Pearl, Phillip L., Scheffer, Ingrid E., Spillmann, Rebecca C., Taglialatela, Maurizio, Vieker, Silvia, Weckhuysen, Sarah, Cooper, Edward C., Cilio, Maria Roberta
Publicado no Epilepsia (2017)

Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios

Por Zhu, Xiaolin, Petrovski, Slavé, Xie, Pingxing, Ruzzo, Elizabeth K., Lu, Yi-Fan, McSweeney, K. Melodi, Ben-Zeev, Bruria, Nissenkorn, Andreea, Anikster, Yair, Oz-Levi, Danit, Dhindsa, Ryan S., Hitomi, Yuki, Schoch, Kelly, Spillmann, Rebecca C., Heimer, Gali, Marek-Yagel, Dina, Tzadok, Michal, Han, Yujun, Worley, Gordon, Goldstein, Jennifer, Jiang, Yong-Hui, Lancet, Doron, Pras, Elon, Shashi, Vandana, McHale, Duncan, Need, Anna C., Goldstein, David B.
Publicado no Genet Med (2015)