Alan Percy, MD is the PI for this RDCRC;Arthur Beaudet, MD is the co-Pi;and Jane Lane, RN, BSN is the Project Manager. Dr. Percy will commit 20% effort and Dr. Beaudet 10% effort to their respective roles, in both cases with institutional salary support from DAB and Baylor, respectively. Ms. Lane will commit 50% effort as Project Manager. The organizational chart below provides an overview of the chain of responsibility, the consortium lead investigators and the respective consortium sites for AS, RTT, and PWS, the interaction with and between the patient advocacy groups, and the connection of each site to the DTCC/DMCC.
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| Sadhwani, Anjali; Sanjana, Neville E; Willen, Jennifer M et al. (2018) Two Angelman families with unusually advanced neurodevelopment carry a start codon variant in the most highly expressed UBE3A isoform. Am J Med Genet A 176:1641-1647 |
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| Hector, Ralph D; Kalscheuer, Vera M; Hennig, Friederike et al. (2017) CDKL5 variants: Improving our understanding of a rare neurologic disorder. Neurol Genet 3:e200 |
| Tarquinio, Daniel C; Hou, Wei; Berg, Anne et al. (2017) Longitudinal course of epilepsy in Rett syndrome and related disorders. Brain 140:306-318 |
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