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Author/Creator Picker, Jonathan D.

1. De Novo Heterozygous Mutations in SMC3 Cause a Range of Cornelia de Lange Syndrome‐Overlapping Phenotypes. Issue 4 (17th March 2015)

Authors:
Gil‐Rodríguez, María Concepción; Deardorff, Matthew A.; Ansari, Morad; Tan, Christopher A.; Parenti, Ilaria; Baquero‐Montoya, Carolina; Ousager, Lilian B.; Puisac, Beatriz; Hernández‐Marcos, María; Teresa‐Rodrigo, María Esperanza; Marcos‐Alcalde, Iñigo; Wesselink, Jan‐Jaap; Lusa‐Bernal, Silvia; B...
Journal:
Human mutation
Issue:
Volume 36:Issue 4(2015:Apr.)
Page Start:
454
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

2. Expanding the phenotypic spectrum of GABRG2 variants: a recurrent GABRG2 missense variant associated with a severe phenotype. (3rd April 2017)

Authors:
Zou, Fanggeng; McWalter, Kirsty; Schmidt, Lindsay; Decker, Amy; Picker, Jonathan D.; Lincoln, Sharyn; Sweetser, David A.; Briere, Lauren C.; Harini, Chellamani; Marsh, Eric; Medne, Livija; Wang, Raymond Y.; Leydiker, Karen; Mower, Andrew; Visser, Gepke; Cuppen, Inge; van Gassen, Koen L.; van der ...
Journal:
Journal of neurogenetics
Issue:
Volume 31:Number 1/2(2017)
Page Start:
30
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗