Search

Author/Creator Snell, Meaghan

1. A novel intronic variant in UBE3A identified by genome sequencing in a patient with an atypical presentation of Angelman syndrome. Issue 9 (11th July 2020)

Authors:
Curtis, Meredith; Baribeau, Danielle; Walker, Susan; Carter, Melissa; Costain, Gregory; Lamoureux, Sylvia; Liston, Eriskay; Marshall, Christian R.; Reuter, Miriam S.; Snell, Meaghan; Summers, Jane; Vorstman, Jacob; Jobling, Rebekah K.
Journal:
American journal of medical genetics
Issue:
Volume 182:Issue 9(2020)
Page Start:
2145
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

2. Genome sequencing among children with medical complexity: What constitutes value from parents' perspective?. Issue 2 (21st October 2021)

Authors:
Lee, Whiwon; Luca, Stephanie; Costain, Gregory; Snell, Meaghan; Marano, Maria; Curtis, Meredith; Dunsmore, Kourtney; Veenma, Danielle; Walker, Susan; Cohn, Ronald D.; Marshall, Christian R.; Cohen, Eyal; Meyn, M. Stephen; Orkin, Julia; Hayeems, Robin Z.
Journal:
Journal of genetic counseling
Issue:
Volume 31:Issue 2(2022)
Page Start:
523
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗