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Author/Creator Stanley, Christine

1. Genetic testing including targeted gene panel in a diverse clinical population of children with autism spectrum disorder: Findings and implications. Issue 2 (21st December 2017)

Authors:
Kalsner, Louisa; Twachtman‐Bassett, Jennifer; Tokarski, Kristin; Stanley, Christine; Dumont‐Mathieu, Thyde; Cotney, Justin; Chamberlain, Stormy
Journal:
Molecular genetics & genomic medicine
Issue:
Volume 6:Issue 2(2018)
Page Start:
171
Record Type:
Journal Article
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2. GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects. Issue 7 (4th April 2017)

Authors:
Platzer, Konrad; Yuan, Hongjie; Schütz, Hannah; Winschel, Alexander; Chen, Wenjuan; Hu, Chun; Kusumoto, Hirofumi; Heyne, Henrike O; Helbig, Katherine L; Tang, Sha; Willing, Marcia C; Tinkle, Brad T; Adams, Darius J; Depienne, Christel; Keren, Boris; Mignot, Cyril; Frengen, Eirik; Strømme, Petter;...
Journal:
Journal of medical genetics
Issue:
Volume 54:Issue 7(2017)
Page Start:
460
Record Type:
Journal Article
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3. KCTD7 deficiency defines a distinct neurodegenerative disorder with a conserved autophagy‐lysosome defect. Issue 5 (8th November 2018)

Authors:
Metz, Kyle A.; Teng, Xinchen; Coppens, Isabelle; Lamb, Heather M.; Wagner, Bart E.; Rosenfeld, Jill A.; Chen, Xianghui; Zhang, Yu; Kim, Hee Jong; Meadow, Michael E.; Wang, Tim Sen; Haberlandt, Edda D.; Anderson, Glenn W.; Leshinsky‐Silver, Esther; Bi, Weimin; Markello, Thomas C.; Pratt, Marsha; M...
Journal:
Annals of neurology
Issue:
Volume 84:Issue 5(2018)
Page Start:
766
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗