María Juliana Ballesta‐Martínez

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

Genotype and phenotype in patients with Noonan syndrome and a RIT1 mutation

Karim Kouz, Stephanie Spranger, Diana Mitter et al. · Genetics in Medicine · 2016 · 104 citations · Full text

Mendelian Disorder, Autoimmune Disease, Genetic Disorder +7

Mutations in PLOD2 cause autosomal-recessive connective tissue disorders within the Bruck syndrome-Osteogenesis imperfecta phenotypic spectrum

Maria Trinidad Puig-Hervás, Samia A. Temtamy, Mona Aglan et al. · Human Mutation · 2012 · 95 citations

A new seipin-associated neurodegenerative syndrome

Encarna Guillén‐Navarro, Sofía Sánchez‐Iglesias, Rosario Domingo‐Jiménez et al. · Journal of Medical Genetics · 2013 · 76 citations · Full text

Small 6q16.1 Deletions Encompassing POU3F2 Cause Susceptibility to Obesity and Variable Developmental Delay with Intellectual Disability

Paul R. Kasher, Katherine E. Schertz, Megan Thomas et al. · The American Journal of Human Genetics · 2016 · 73 citations · Full text

Obesity, Metabolic Syndrome, Developmental Biology +7