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Number of items: 4.

Wilbur, Colin; Buerki, Sarah E; Guella, Ilaria; Toyota, Eric B; Evans, Daniel M; McKenzie, Marna B; Datta, Anita; Michoulas, Aspasia; Adam, Shelin; Van Allen, Margot I; Nelson, Tanya N; Farrer, Matthew J; Connolly, Mary B; Demos, Michelle (2017). An Infant With Epilepsy and Recurrent Hemiplegia due to Compound Heterozygous Variants in ATP1A2. Pediatric Neurology, 75:87-90.

Guella, Ilaria; McKenzie, Marna B; Evans, Daniel M; Buerki, Sarah E; Toyota, Eric B; Van Allen, Margot I; Epilepsy Genomics Study, ?; Suri, Mohnish; Elmslie, Frances; Deciphering Developmental Disorders Study; Simon, Marleen E H; van Gassen, Koen L I; Héron, Delphine; Keren, Boris; Nava, Caroline; Connolly, Mary B; Demos, Michelle; Farrer, Matthew J (2017). De Novo Mutations in YWHAG Cause Early-Onset Epilepsy. American Journal of Human Genetics, 101(2):300-310.

Guella, Ilaria; Huh, Linda; McKenzie, Marna B; Toyota, Eric B; Bebin, E Martina; Thompson, Michelle L; Cooper, Gregory M; Evans, Daniel M; Buerki, Sarah E; Adam, Shelin; Van Allen, Margot I; Nelson, Tanya N; Connolly, Mary B; Farrer, Matthew J; Demos, Michelle (2016). De novo mutation in 2 patients with neonatal-onset epilepsy. Neurology Genetics, 2(6):e120.

van Karnebeek, Clara D M; Bonafé, Luisa; Wen, Xiao-Yan; Tarailo-Graovac, Maja; Balzano, Sara; Royer-Bertrand, Beryl; Ashikov, Angel; Garavelli, Livia; Mammi, Isabella; Turolla, Licia; Breen, Catherine; Donnai, Dian; Cormier, Valerie; Heron, Delphine; Nishimura, Gen; Uchikawa, Shinichi; Campos-Xavier, Belinda; Rossi, Antonio; Hennet, Thierry; Brand-Arzamendi, Koroboshka; Rozmus, Jacob; Harshman, Keith; Stevenson, Brian J; Girardi, Enrico; Superti-Furga, Giulio; Dewan, Tammie; Collingridge, Alissa; Halparin, Jessie; Ross, Colin J; Van Allen, Margot I; et al (2016). NANS-mediated synthesis of sialic acid is required for brain and skeletal development. Nature Genetics, 48(7):777-784.

This list was generated on Wed May 22 03:46:27 2019 CEST.