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Author/Creator Zoghbi, Huda

2. Intellectual and Developmental Disabilities Research Centers: A Multidisciplinary Approach to Understand the Pathogenesis of Methyl-CpG Binding Protein 2-related Disorders. (1st October 2020)

Authors:
Fagiolini, Michela; Patrizi, Annarita; LeBlanc, Jocelyn; Jin, Lee-Way; Maezawa, Izumi; Sinnett, Sarah; Gray, Steven J.; Molholm, Sophie; Foxe, John J.; Johnston, Michael V.; Naidu, Sakkubai; Blue, Mary; Hossain, Ahamed; Kadam, Shilpa; Zhao, Xinyu; Chang, Quiang; Zhou, Zhaolan; Zoghbi, Huda
Journal:
Neuroscience
Issue:
Volume 445(2020)
Page Start:
190
Record Type:
Journal Article
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3. Loss of Ataxin-1 potentiates Alzheimer's pathogenesis by elevating cerebral BACE1 transcription. (September 2019)

Authors:
Suh, Jaehong; Romano, Donna; Nitschke, Larissa; Herrick, Scott; Dimarzio, Britt; Dzhala, Volodymyr; Bae, Jun-Seok; Oram, Mary; Zheng, Yuejiao; Hooli, Basavaraj; Mullin, Kristina; Gennarino, Vincenzo; Wasco, Wilma; Schmahmann, Jeremy; Albers, Mark; Zoghbi, Huda; Tanzi, Rudolph
Journal:
IBRO reports
Issue:
Volume 6(2019)Supplement
Page Start:
S226
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

4. Recommendations by the ClinGen Rett/Angelman‐like expert panel for gene‐specific variant interpretation methods. Issue 8 (2nd December 2021)

Authors:
McKnight, Dianalee; Bean, Lora; Karbassi, Izabela; Beattie, Katelynn; Bienvenu, Thierry; Bonin, Hope; Fang, Ping; Chrisodoulou, John; Friez, Michael; Helgeson, Maria; Krishnaraj, Rahul; Meng, Linyan; Mighion, Lindsey; Neul, Jeffrey; Percy, Alan; Ramsden, Simon; Zoghbi, Huda; Das, Soma
Other Names:
Laner Andreas guestEditor.; Maver Ales guestEditor.; den Dunnen Johan T. guestEditor.
Journal:
Human mutation
Issue:
Volume 43:Issue 8(2022)
Page Start:
1097
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗