Concepedia
Statistics
Publications
13
Citations
1.1K
H-Index
12
Active since
2012
Affiliations
William Harvey Research Institute(Current)
Queen Mary University of London
Jackson Laboratory
European Bioinformatics Institute
Baylor College of Medicine
Pilar Cacheiro is an author at William Harvey Research Institute specializing in genetics, life sciences, and medical genetics.
Publications per year
2012–2025
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 · 449 citations · Full text
Life Sciences, Bioinformatics, Genetics +17
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 · 133 citations · Full text
Life Sciences, Bioinformatics, Genetics +15
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 · 127 citations · Full text
Life Sciences, Genetics, Molecular Genetics +17
Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome
Margot A. Cousin, Blake A. Creighton, Keith A. Breau et al. · Nature Genetics · 2021 · 108 citations · Full text
Life Sciences, Genetics, Molecular Genetics +13
‘Costa da Morte’ ataxia is spinocerebellar ataxia 36: clinical and genetic characterization
María García-Murias, Beatriz Quintáns, Manuel Arias et al. · Brain · 2012 · 94 citations · Full text
Life Sciences, Genetics, Molecular Genetics +16
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