A. Madrid

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 · 205 citations · Full text

Genetics, Renal Pathology, Steroid-resistant Nephrotic Syndrome +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 · 146 citations

Glomerulonephritis, Mendelian Disorder, Kidney Diseases +13

Nephrin mutations cause childhood- and adult-onset focal segmental glomerulosclerosis

Sheila Santín, Rafael García‐Maset, Patricia Ruíz et al. · Kidney International · 2009 · 130 citations · Full text

Glomerular Disease, Glomerulonephritis, Urology +10

Targeted next-generation sequencing in steroid-resistant nephrotic syndrome: mutations in multiple glomerular genes may influence disease severity

Gemma Bullich, Daniel Trujillano, Sheila Santín et al. · European Journal of Human Genetics · 2014 · 83 citations · Full text

Glomerulonephritis, Renal Function, Multiple Glomerular Genes +10

SARS-CoV-2 infection in Spanish children with chronic kidney pathologies

Marta Melgosa, A. Madrid, Oscar Gaston Alvarez et al. · Pediatric Nephrology · 2020 · 79 citations · Full text