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Publications by Bonnie M. Orrison
Spectrum of Mutations in the OCRL1Gene in the Lowe Oculocerebrorenal Syndrome
American Journal of Human Genetics
Genetics
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From Lowe Syndrome to Dent Disease: Correlations Between Mutations of the OCRL1 Gene and Clinical and Biochemical Phenotypes
Human Mutation
Genetics
The Cellular and Physiological Functions of the Lowe Syndrome Protein OCRL1
Traffic
Biochemistry
Genetics
Cell Biology
Molecular Biology
Structural Biology
Mutations in NCAPG2 Cause a Severe Neurodevelopmental Syndrome That Expands the Phenotypic Spectrum of Condensinopathies
American Journal of Human Genetics
Genetics
Expanding the Spectrum of IDH1 Mutations in Gliomas
Modern Pathology
Forensic Medicine
Pathology
Spectrum of Mutations in the Batten Disease Gene, CLN3
American Journal of Human Genetics
Genetics
Kabuki Syndrome: A Chinese Case Series and Systematic Review of the Spectrum of Mutations
BMC Medical Genetics
Genetics
The Mutational Spectrum of Lynch Syndrome in Cyprus
PLoS ONE
Multidisciplinary
PTPN11 Mutations in Noonan Syndrome: Molecular Spectrum, Genotype-Phenotype Correlation, and Phenotypic Heterogeneity
American Journal of Human Genetics
Genetics
Mutations in the Nijmegen Breakage Syndrome Gene in Medulloblastomas
Clinical Cancer Research
Cancer Research
Oncology
