Search filters

List of works by Pilar Cacheiro

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

scientific article

A replication study of a GWAS finding in migraine does not identify association in a Spanish case-control sample

scientific article published on 20 August 2012

Databases for neurogenetics: introduction, overview, and challenges

scientific article published on September 2012

Evaluating the Calling Performance of a Rare Disease NGS Panel for Single Nucleotide and Copy Number Variants.

scientific article

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

scientific article published on 31 January 2020

Medical genomics: The intricate path from genetic variant identification to clinical interpretation

scientific article

New models for human disease from the International Mouse Phenotyping Consortium

scientific article published on 24 May 2019

Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome

scientific article published on 01 July 2021

Synaptotagmin XI in Parkinson's disease: New evidence from an association study in Spain and Mexico

scientific article

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

scientific article published on 19 May 2018

Paulina is supported by:

About Paulina

Help