Wendy E. Smith
Maine Medical Center(US)Barbara Bush Children’s Hospital(US)
Publications by Year
Research Areas
Metabolism and Genetic Disorders, Diet and metabolism studies, Genomic variations and chromosomal abnormalities, Congenital heart defects research, Genetics and Neurodevelopmental Disorders
Most-Cited Works
- → Phenylalanine hydroxylase deficiency: diagnosis and management guideline(2014)703 cited
- → A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay(2010)671 cited
- → Mutations in ENPP1 are associated with 'idiopathic' infantile arterial calcification(2003)598 cited
- → Microduplication 22q11.2, an Emerging Syndrome: Clinical, Cytogenetic, and Molecular Analysis of Thirteen Patients(2003)376 cited
- → Recombinant human acid α-glucosidase enzyme therapy for infantile glycogen storage disease type II: Results of a phase I/II clinical trial(2001)347 cited
- → Generalized Arterial Calcification of Infancy and Pseudoxanthoma Elasticum Can Be Caused by Mutations in Either ENPP1 or ABCC6(2011)339 cited
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