Anne Slavotinek
Cincinnati Children's Hospital Medical Center(US)University of California, San Francisco(US)University of Cincinnati(US)University of Cincinnati Medical Center(US)
Publications by Year
Research Areas
Genomics and Rare Diseases, Genomic variations and chromosomal abnormalities, Genetics and Neurodevelopmental Disorders, Congenital heart defects research, Ocular Disorders and Treatments
Most-Cited Works
- → Mutations in STRA6 Cause a Broad Spectrum of Malformations Including Anophthalmia, Congenital Heart Defects, Diaphragmatic Hernia, Alveolar Capillary Dysplasia, Lung Hypoplasia, and Mental Retardation(2007)359 cited
- → Video image analysis of labile zinc in viable pancreatic islet cells using a specific fluorescent probe for zinc.(1994)273 cited
- → Mutations in MKKS cause Bardet-Biedl syndrome(2000)270 cited
- → Novel microdeletion syndromes detected by chromosome microarrays(2008)259 cited
- → Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy(2015)244 cited
- → Fraser syndrome and cryptophthalmos: review of the diagnostic criteria and evidence for phenotypic modules in complex malformation syndromes(2002)234 cited