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Author/Creator Sheidley, Beth

1. Clinico‐radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency. Issue 3 (12th January 2022)

Authors:
Scala, Marcello; Wortmann, Saskia B.; Kaya, Namik; Stellingwerff, Menno D.; Pistorio, Angela; Glamuzina, Emma; van Karnebeek, Clara D.; Skrypnyk, Cristina; Iwanicka‐Pronicka, Katarzyna; Piekutowska‐Abramczuk, Dorota; Ciara, Elżbieta; Tort, Frederic; Sheidley, Beth; Poduri, Annapurna; Jayakar, Par...
Journal:
Human mutation
Issue:
Volume 43:Issue 3(2022)
Page Start:
403
Record Type:
Journal Article
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2. De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability. Issue 10 (15th December 2021)

Authors:
Schalk, Audrey; Cousin, Margot A; Dsouza, Nikita R; Challman, Thomas D; Wain, Karen E; Powis, Zoe; Minks, Kelly; Trimouille, Aurélien; Lasseaux, Eulalie; Lacombe, Didier; Angelini, Chloé; Michaud, Vincent; Van-Gils, Julien; Spataro, Nino; Ruiz, Anna; Gabau, Elizabeth; Stolerman, Elliot; Washingto...
Journal:
Journal of medical genetics
Issue:
Volume 59:Issue 10(2022)
Page Start:
965
Record Type:
Journal Article
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3. SCN1A variants associated with sudden infant death syndrome. (30th March 2018)

Authors:
Brownstein, Catherine A.; Goldstein, Richard D.; Thompson, Christopher H.; Haynes, Robin L.; Giles, Emma; Sheidley, Beth; Bainbridge, Matthew; Haas, Elisabeth A.; Mena, Othon J.; Lucas, Jonathan; Schaber, Bethann; Holm, Ingrid A.; George, Alfred L.; Kinney, Hannah C.; Poduri, Annapurna H.
Journal:
Epilepsia
Issue:
Volume 59:issue 4(2018)
Page Start:
e56
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗