Isabel Llano‐Rivas

High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype–Phenotype Correlation

Kitiwan Rojnueangnit, Jing Xie, Alicia Gomes et al. · Human Mutation · 2015 · 188 citations · Full text

Genetics, Genetic Epidemiology, Pathology +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

Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment

Vincenzo Salpietro, Nancy T. Malintan, Isabel Llano‐Rivas et al. · The American Journal of Human Genetics · 2019 · 117 citations · Full text

Synaptic Plasticity, Molecular Neuroscience, Developmental Biology +12

Clinical utility of genetic testing in early-onset kidney disease: seven genes are the main players

Andrea Domingo-Gallego, Marc Pybus, Gemma Bullich et al. · Nephrology Dialysis Transplantation · 2021 · 102 citations

Formin Homology 2 Domain Containing 3 (FHOD3) Is a Genetic Basis for Hypertrophic Cardiomyopathy

Juan Pablo Ochoa, María Sabater‐Molina, José Manuel García‐Pinilla et al. · Journal of the American College of Cardiology · 2018 · 96 citations · Full text