Anne Slavotinek

Mutations in STRA6 Cause a Broad Spectrum of Malformations Including Anophthalmia, Congenital Heart Defects, Diaphragmatic Hernia, Alveolar Capillary Dysplasia, Lung Hypoplasia, and Mental Retardation

Francesca Pasutto, Heinrich Sticht, G. Hammersen et al. · The American Journal of Human Genetics · 2007 · 358 citations · Full text

Developmental Anomaly, Developmental Biology, Genetic Disorder +8

Video image analysis of labile zinc in viable pancreatic islet cells using a specific fluorescent probe for zinc.

Peter D. Zalewski, Sophie Millard, Ian J. Forbes et al. · Journal of Histochemistry & Cytochemistry · 1994 · 273 citations

Engineering, Specific Fluorescent Probe, Biochemistry +14

Mutations in MKKS cause Bardet-Biedl syndrome

Anne Slavotinek, Edwin M. Stone, Kirk Mykytyn et al. · Nature Genetics · 2000 · 269 citations

Mendelian Disorder, Genetic Disorder, Genetics +3

Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy

Claudia Gonzaga‐Jauregui, Tamar Harel, Tomasz Gambin et al. · Cell Reports · 2015 · 240 citations · Full text

Mutation of a gene encoding a putative chaperonin causes McKusick-Kaufman syndrome

Deborah L. Stone, Anne Slavotinek, Gerard G. Bouffard et al. · Nature Genetics · 2000 · 201 citations

Genetic Disorder, Putative Chaperonin, Genetics +7