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Author/Creator Smith, Ann C. M.

1. A diagnosis of Birt–Hogg–Dubé syndrome in individuals with Smith–Magenis syndrome: Recommendation for cancer screening. Issue 2 (13th December 2022)

Authors:
Vocke, Cathy D.; Fleming, Leah R.; Piskorski, Anna M.; Amin, Ali; Phornphutkul, Chanika; de la Monte, Suzanne; Vilboux, Thierry; Duncan, Folami; Pellegrino, Joan; Braddock, Bonnie; Middelton, Lindsay A.; Schmidt, Laura S.; Merino, Maria J.; Cowen, Edward W.; Introne, Wendy J.; Linehan, W. Marston...
Journal:
American journal of medical genetics
Issue:
Volume 191:Issue 2(2023)
Page Start:
490
Record Type:
Journal Article
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2. Delayed diagnosis in a house of correction: Smith–Magenis syndrome due to a de novo nonsense RAI1 variant. Issue 9 (17th June 2016)

Authors:
Yeetong, Patra; Vilboux, Thierry; Ciccone, Carla; Boulier, Kristin; Schnur, Rhonda E.; Gahl, William A.; Huizing, Marjan; Laje, Gonzalo; Smith, Ann C. M.
Journal:
American journal of medical genetics
Issue:
Volume 170:Issue 9(2016)
Page Start:
2383
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

3. Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1‐associated neurodevelopmental disorder (DAND) phenotype. Issue 12 (23rd September 2017)

Authors:
Chen, Li; Jensik, Philip J.; Alaimo, Joseph T.; Walkiewicz, Magdalena; Berger, Seth; Roeder, Elizabeth; Faqeih, Eissa A.; Bernstein, Jonathan A.; Smith, Ann C. M.; Mullegama, Sureni V.; Saffen, David W.; Elsea, Sarah H.
Journal:
Human mutation
Issue:
Volume 38:Issue 12(2017)
Page Start:
1774
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗