Shur, Natasha

Phenotypic Heterogeneity of Genomic Disorders and Rare Copy-Number Variants

Girirajan, S., Rosenfeld, J. A., Coe, B. P., Parikh, S., Friedman, N., Goldstein, A., Filipink, R. A., McConnell, J. S., Angle, B., Meschino, W. S., et al. (2012) · New England Journal of Medicine

Genomic variations and chromosomal abnormalitiesGenomics and Rare Diseases

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Newborn screening for X-linked adrenoleukodystrophy in New York State: Diagnostic protocol, surveillance protocol and treatment guidelines

Vogel, B. H., Bradley, S. E., Adams, D. J., D'Aco, K., Erbe, R. W., Fong, C., Iglesias, A., Kronn, D., Levy, P., Morrissey, M., et al. (2015) · Molecular Genetics and Metabolism

Metabolism and Genetic DisordersLysosomal Storage Disorders Research

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Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures

Petrovski, S., Küry, S., Myers, C. T., Anyane-Yeboa, K., Cogné, B., Bialer, M., Xia, F., Hemati, P., Riviello, J., Mehaffey, M., et al. (2016) · The American Journal of Human Genetics

Genetics and Neurodevelopmental DisordersGenomics and Rare Diseases

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