selected scholarly activity
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academic article
- Successful therapy for protein-losing enteropathy caused by chronic neuronopathic Gaucher disease. Molecular Genetics and Metabolism Reports. 6:13-15. 2016
- Lethal Neonatal Rigidity and Multifocal Seizure Syndrome—A Misnamed Disorder?. Pediatric Neurology. 53:535-540. 2015
- Phenotype Presentation for a Novel Mutation Affecting a Conserved Cysteine Residue in Exon 63 of Fibrillin-1 (Cys2633Arg). Biochemical Genetics. 52:225-232. 2014
- Mosaicism of the UDP-Galactose Transporter SLC35A2 Causes a Congenital Disorder of Glycosylation. American Journal of Human Genetics. 92:632-636. 2013
- Potential teratogenic effects of allopurinol: A case report. American Journal of Medical Genetics American Journal of Medical Genetics, Part A. 155:2247-2252. 2011
- Genetic implications and health consequences following the Chernobyl nuclear accident. Clinical Genetics. 77:221-226. 2010
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conference paper
- Late diagnosis of maternal glutaric acidemia type 1 through expanded newborn screening. Molecular Genetics and Metabolism. 336-337. 2012