P
Pilar Cacheiro
Researcher at Queen Mary University of London
Publications - 21
Citations - 493
Pilar Cacheiro is an academic researcher from Queen Mary University of London. The author has contributed to research in topics: Medicine & Biology. The author has an hindex of 9, co-authored 14 publications receiving 260 citations. Previous affiliations of Pilar Cacheiro include University of Santiago de Compostela.
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'Costa da Morte' ataxia is spinocerebellar ataxia 36: clinical and genetic characterization.
María García-Murias,Beatriz Quintáns,Manuel Arias,Ana I. Seixas,Pilar Cacheiro,Rosa Tarrío,Rosa Tarrío,Julio Pardo,María J. Millán,Susana Arias-Rivas,Patricia Blanco-Arias,Patricia Blanco-Arias,Dapena D,Ramón Moreira,Francisco Rodríguez-Trelles,Jorge Sequeiros,Jorge Sequeiros,Angel Carracedo,Angel Carracedo,Isabel Silveira,María Jesús Sobrido,María Jesús Sobrido +21 more
TL;DR: The detailed clinical picture is described, consisting of a late-onset, slowly progressive cerebellar syndrome with variable eye movement abnormalities and sensorineural hearing loss, and the origin of the founder mutation in Galicia is estimated to have occurred ∼1275 years ago.
Journal ArticleDOI
The International Mouse Phenotyping Consortium (IMPC): a functional catalogue of the mammalian genome that informs conservation.
Violeta Muñoz-Fuentes,Pilar Cacheiro,Terrence F. Meehan,Juan Antonio Aguilar-Pimentel,Steve D.M. Brown,Ann M. Flenniken,Paul Flicek,Antonella Galli,Hamed Haseli Mashhadi,Martin Hrabě de Angelis,Jong Kyoung Kim,Kevin C K Lloyd,Colin McKerlie,Colin McKerlie,Hugh P. Morgan,Stephen A. Murray,Lauryl M. J. Nutter,Patrick T. Reilly,John R. Seavitt,Je Kyung Seong,Michelle Simon,Hannah Wardle-Jones,Ann-Marie Mallon,Damian Smedley,Helen Parkinson +24 more
TL;DR: Using gorilla genomic data, it is shown how genes essential to development in mice can be used to help assess the potentially deleterious impact of gene variants in other species, and how these analyses can be routinely applied.
Journal ArticleDOI
Human and mouse essentiality screens as a resource for disease gene discovery.
Pilar Cacheiro,Violeta Muñoz-Fuentes,Stephen A. Murray,Mary E Dickinson,Maja Bucan,Lauryl M. J. Nutter,Kevin A. Peterson,Hamed Haselimashhadi,Ann M Flenniken,Hugh P. Morgan,Henrik Westerberg,Tomasz Konopka,Chih-Wei Hsu,Audrey E. Christiansen,Denise G. Lanza,Arthur L. Beaudet,Jason D. Heaney,Helmut Fuchs,Valerie Gailus-Durner,Tania Sorg,Jan Prochazka,Vendula Novosadova,Christopher J. Lelliott,Hannah Wardle-Jones,Sara Wells,Lydia Teboul,Heather Cater,Michelle Stewart,Tertius Hough,Wolfgang Wurst,Wolfgang Wurst,Radislav Sedlacek,David J. Adams,John R. Seavitt,Glauco P. Tocchini-Valentini,Fabio Mammano,Robert E. Braun,Colin McKerlie,Yann Herault,Martin Hrabě de Angelis,Ann-Marie Mallon,Kevin C K Lloyd,Steve D. M. Brown,Helen Parkinson,Terrence F. Meehan,Damian Smedley +45 more
TL;DR: A Full Spectrum of Intolerance to Loss-of-Function (FUSIL) categorization that integrates gene essentiality information to aid disease gene discovery is proposed.
Journal ArticleDOI
New models for human disease from the International Mouse Phenotyping Consortium.
TL;DR: An update on the novel disease models available from the most recent data release (DR10.0), with 5861 mouse genes fully or partially phenotyped and a total number of 69,982 phenotype calls reported.
The International Mouse Phenotyping Consortium (IMPC): a functional catalogue of the mammalian genome that informs conservation · the IMPC consortium
Violeta Muñoz-Fuentes,Pilar Cacheiro,Terrence F. Meehan,Juan Antonio Aguilar-Pimentel,Steve Brown,Ann M Flenniken,Paul Flicek,Antonella Galli,Hamed Haseli Mashhadi,Martin Hrabě de Angelis,Jong Kyoung Kim,Kent Lloyd,Colin McKerlie,Hugh P. Morgan,Stephen A. Murray,Lauryl M J Nutter,Patrick T. Reilly,John R. Seavitt,Je Kyung Seong,Michelle Simon,Hannah Wardle-Jones,Ann-Marie Mallon,Damian Smedley,Helen Parkinson +23 more
TL;DR: The International Mouse Phenotyping Consortium (IMPC) is building a catalogue of mammalian gene function by producing and phenotyping a knockout mouse line for every protein-coding gene.