Judy Savige

Nonmuscle Myosin Heavy Chain IIA Mutations Define a Spectrum of Autosomal Dominant Macrothrombocytopenias: May-Hegglin Anomaly and Fechtner, Sebastian, Epstein, and Alport-Like Syndromes

Karen E. Heath, Ángel Campos‐Barros, Amos Toren et al. · The American Journal of Human Genetics · 2001 · 297 citations · Full text

Autosomal Dominant Macrothrombocytopenias, Mendelian Disorder, Autoimmune Disease +10

Array-Based Gene Discovery with Three Unrelated Subjects Shows SCARB2/LIMP-2 Deficiency Causes Myoclonus Epilepsy and Glomerulosclerosis

Samuel F. Berkovic, Leanne M. Dibbens, Alicia Oshlack et al. · The American Journal of Human Genetics · 2008 · 255 citations · Full text

Rare Diseases, Systems Biology, Three Unrelated Subjects +10

Prevalence Estimates of Predicted Pathogenic COL4A3–COL4A5 Variants in a Population Sequencing Database and Their Implications for Alport Syndrome

Joel T. Gibson, Rachel Fieldhouse, Melanie Chan et al. · Journal of the American Society of Nephrology · 2021 · 184 citations · Full text

COL4A3/COL4A4 Mutations and Features in Individuals with Autosomal Recessive Alport Syndrome

Helen Storey, Judy Savige, Vanessa Sivakumar et al. · Journal of the American Society of Nephrology · 2013 · 175 citations · Full text

Genetics in chronic kidney disease: conclusions from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference

Anna Köttgen, Émilie Cornec-Le Gall, Jan Halbritter et al. · Kidney International · 2022 · 169 citations · Full text