Pilar Cacheiro

The International Mouse Phenotyping Consortium: comprehensive knockout phenotyping underpinning the study of human disease

Tudor Groza, Federico López, Hamed Mashhadi et al. · Nucleic Acids Research · 2022 · 418 citations · Full text

The International Mouse Phenotyping Consortium (IMPC): a functional catalogue of the mammalian genome that informs conservation

Violeta Muñoz‐Fuentes, Pilar Cacheiro, Terrence F. Meehan et al. · Conservation Genetics · 2018 · 128 citations · Full text

Human and mouse essentiality screens as a resource for disease gene discovery

Pilar Cacheiro, Violeta Muñoz‐Fuentes, Stephen A. Murray et al. · Nature Communications · 2020 · 119 citations · Full text

Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome

Margot A. Cousin, Blake A. Creighton, Keith A. Breau et al. · Nature Genetics · 2021 · 98 citations · Full text

Developmental Anomaly, Pathogenic Sptbn1 Variants, Brain Development +7

‘Costa da Morte’ ataxia is spinocerebellar ataxia 36: clinical and genetic characterization

María García-Murias, Beatriz Quintáns, Manuel Arias et al. · Brain · 2012 · 93 citations · Full text