Mónica Furlano

Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly

Daniela A. Braun, Jia Rao, Géraldine Mollet et al. · Nature Genetics · 2017 · 221 citations · Full text

Medicine, Genetics, Molecular Genetics +15

Sparsentan in patients with IgA nephropathy: a prespecified interim analysis from a randomised, double-blind, active-controlled clinical trial

Hiddo J.L. Heerspink, Jai Radhakrishnan, Charles E. Alpers et al. · The Lancet · 2023 · 215 citations · Full text

Medicine, Internal Medicine, Nephrology +12

Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency

Svjetlana Lovric, Sara Gonçalves, Heon Yung Gee et al. · Journal of Clinical Investigation · 2017 · 208 citations · Full text

Medicine, Genetics, Molecular Genetics +17

A kidney-disease gene panel allows a comprehensive genetic diagnosis of cystic and glomerular inherited kidney diseases

Gemma Bullich, Andrea Domingo-Gallego, Iván Vargas et al. · Kidney International · 2018 · 156 citations

Medicine, Genetics, Molecular Genetics +15

Clinical and Genetic Features of Autosomal Dominant Alport Syndrome: A Cohort Study

Mónica Furlano, Víctor Martínez, Marc Pybus et al. · American Journal of Kidney Diseases · 2021 · 115 citations · Full text

Life Sciences, Genetics, Pathology +13