Filippo Pinto e Vairo

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias

Katherine L. Helbig, Robert J. Lauerer, Jacqueline C Bahr et al. · The American Journal of Human Genetics · 2018 · 145 citations · Full text

Epileptic Encephalopathy, Neurobiology Of Disease, Pathogenesis +10

Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophy

Devesh C. Pant, Imen Dorboz, Agatha Schlüter et al. · Journal of Clinical Investigation · 2019 · 101 citations · Full text

Myelin Development, Myelin Sheath, Neurodegenerative Diseases +15

A <i>CACNA1D</i> mutation in a patient with persistent hyperinsulinaemic hypoglycaemia, heart defects, and severe hypotonia

Filippo Pinto e Vairo, Richard Caswell, Hana Lango Allen et al. · Pediatric Diabetes · 2017 · 90 citations · Full text

Heart Defects, Molecular Physiology, Developmental Biology +14

Phenylketonuria and Gut Microbiota: A Controlled Study Based on Next-Generation Sequencing

Felipe Pinheiro de Oliveira, Roberta Hack Mendes, Priscila Thiago Dobbler et al. · PLoS ONE · 2016 · 65 citations · Full text

Dysbiosis, Modified Diet, Pathology +19

Impact of integrated translational research on clinical exome sequencing

Eric W. Klee, Margot A. Cousin, Filippo Pinto e Vairo et al. · Genetics in Medicine · 2020 · 57 citations · Full text