Strategies to Uplift Novel Mendelian Gene Discovery for Improved Clinical Outcomes

by Eleanor G. Seaby, Eleanor G. Seaby, Eleanor G. Seaby, Eleanor G. Seaby, Heidi L. Rehm, Heidi L. Rehm, Anne O’Donnell-Luria, Anne O’Donnell-Luria, Anne O’Donnell-Luria, Anne O’Donnell-Luria
Published 2021-06-01

Unexpected Findings in a Child with Atypical Hemolytic Uremic Syndrome: An Example of How Genomics Is Changing the Clinical Diagnostic Paradigm

by Eleanor G. Seaby, Rodney D. Gilbert, Rodney D. Gilbert, Gaia Andreoletti, Reuben J. Pengelly, Catherine Mercer, David Hunt, Sarah Ennis
Published 2017-05-01

Autosomal dominant tubulointerstitial kidney disease-UMOD is the most frequent non polycystic genetic kidney disease

by Christine Gast, Anthony Marinaki, Monica Arenas-Hernandez, Sara Campbell, Eleanor G. Seaby, Reuben J. Pengelly, Daniel P. Gale, Thomas M. Connor, David J. Bunyan, Kateřina Hodaňová, Martina Živná, Stanislav Kmoch, Sarah Ennis, G. Venkat-Raman
Published 2018-10-01