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View article: International Mouse Phenotyping Consortium: Investigating gene function and providing insights into human disease
International Mouse Phenotyping Consortium: Investigating gene function and providing insights into human disease Open
The International Mouse Phenotyping Consortium (IMPC; https://www.mousephenotype.org/ ) web portal contains phenotype data for mouse protein-coding genes derived from analysis of data obtained in a systematic and high-throughput fashion fr…
View article: Loss of CTLH component MAEA impairs DNA repair and replication and leads to developmental delay
Loss of CTLH component MAEA impairs DNA repair and replication and leads to developmental delay Open
Ubiquitin E3 ligases play crucial roles in the DNA damage response (DDR) by modulating the turnover, localization, activation, and interactions of DDR and DNA replication proteins. To gain further insight into how the ubiquitin system regu…
View article: GA4GH Phenopacket-Driven Characterization of Genotype-Phenotype Correlations in Mendelian Disorders
GA4GH Phenopacket-Driven Characterization of Genotype-Phenotype Correlations in Mendelian Disorders Open
Comprehensively characterizing genotype-phenotype correlations (GPCs) in Mendelian disease would create new opportunities for improving clinical management and understanding disease biology. However, heterogeneous approaches to data sharin…
View article: MorPhiC Consortium: towards functional characterization of all human genes
MorPhiC Consortium: towards functional characterization of all human genes Open
View article: The spectrum of gene intolerance to variation: Insights from a rare disease cohort
The spectrum of gene intolerance to variation: Insights from a rare disease cohort Open
Deciphering the spectrum of intolerance to loss-of-function (LoF) variation helps identify genes that are critical at various stages of development and hierarchical levels of organisation. We have previously combined cell and mouse viabili…
View article: IMPC impact on preclinical mouse models
IMPC impact on preclinical mouse models Open
View article: A corpus of GA4GH phenopackets: Case-level phenotyping for genomic diagnostics and discovery
A corpus of GA4GH phenopackets: Case-level phenotyping for genomic diagnostics and discovery Open
View article: Computational identification of disease models through cross-species phenotype comparison
Computational identification of disease models through cross-species phenotype comparison Open
The use of standardised phenotyping screens to identify abnormal phenotypes in mouse knockouts, together with the use of ontologies to describe such phenotypic features, allows the implementation of an automated and unbiased pipeline to id…
View article: A corpus of GA4GH Phenopackets: case-level phenotyping for genomic diagnostics and discovery
A corpus of GA4GH Phenopackets: case-level phenotyping for genomic diagnostics and discovery Open
Summary The Global Alliance for Genomics and Health (GA4GH) Phenopacket Schema was released in 2022 and approved by ISO as a standard for sharing clinical and genomic information about an individual, including phenotypic descriptions, nume…
View article: Lethal phenotypes in Mendelian disorders
Lethal phenotypes in Mendelian disorders Open
View article: Improving prenatal diagnosis through standards and aggregation
Improving prenatal diagnosis through standards and aggregation Open
Advances in sequencing and imaging technologies enable enhanced assessment in the prenatal space, with a goal to diagnose and predict the natural history of disease, to direct targeted therapies, and to implement clinical management, inclu…
View article: Lethal phenotypes in Mendelian disorders
Lethal phenotypes in Mendelian disorders Open
Essential genes are those whose function is required for cell proliferation and/or organism survival. A gene’s intolerance to loss-of-function can be allocated within a spectrum, as opposed to being considered a binary feature, since this …
View article: Lethal phenotypes in Mendelian disorders - Supplementary Files
Lethal phenotypes in Mendelian disorders - Supplementary Files Open
View article: Lethal phenotypes in Mendelian disorders - Supplementary Files
Lethal phenotypes in Mendelian disorders - Supplementary Files Open
View article: Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration
Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration Open
By converting physical forces into electrical signals or triggering intracellular cascades, stretch-activated ion channels allow the cell to respond to osmotic and mechanical stress. Knowledge of the pathophysiological mechanisms underlyin…
View article: Post-GWAS machine learning prioritizes key genes regulating blood pressure
Post-GWAS machine learning prioritizes key genes regulating blood pressure Open
Over one thousand blood pressure (BP) loci have been identified by genetic association studies. However, determination of causal genes remains a bottleneck for further translational discovery. Here we triage genes identified by a BP genome…
View article: Essential genes: a cross-species perspective
Essential genes: a cross-species perspective Open
View article: Knockout mice are an important tool for human monogenic heart disease studies
Knockout mice are an important tool for human monogenic heart disease studies Open
Mouse models are relevant to studying the functionality of genes involved in human diseases; however, translation of phenotypes can be challenging. Here, we investigated genes related to monogenic forms of cardiovascular disease based on t…
View article: Genome-wide screening reveals the genetic basis of mammalian embryonic eye development
Genome-wide screening reveals the genetic basis of mammalian embryonic eye development Open
View article: Knockout mice represent an important tool for the multisystemic study of human monogenic heart disease
Knockout mice represent an important tool for the multisystemic study of human monogenic heart disease Open
Supplementary data to support a manuscript entitled "Knockout mice represent an important tool for the multisystemic study of human monogenic heart disease"
View article: Knockout mice represent an important tool for the multisystemic study of human monogenic heart disease
Knockout mice represent an important tool for the multisystemic study of human monogenic heart disease Open
Supplementary data to support a manuscript entitled "Knockout mice represent an important tool for the multisystemic study of human monogenic heart disease"
View article: Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration
Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration Open
By converting physical forces into electrical signals or triggering intracellular cascades, stretch-activated ion channels (SACs) allow the cell to respond to osmotic and mechanical stress. Knowledge of the pathophysiological mechanisms un…
View article: The International Mouse Phenotyping Consortium: comprehensive knockout phenotyping underpinning the study of human disease
The International Mouse Phenotyping Consortium: comprehensive knockout phenotyping underpinning the study of human disease Open
The International Mouse Phenotyping Consortium (IMPC; https://www.mousephenotype.org/) web portal makes available curated, integrated and analysed knockout mouse phenotyping data generated by the IMPC project consisting of 85M data points …
View article: Mendelian gene identification through mouse embryo viability screening
Mendelian gene identification through mouse embryo viability screening Open
Background The diagnostic rate of Mendelian disorders in sequencing studies continues to increase, along with the pace of novel disease gene discovery. However, variant interpretation in novel genes not currently associated with disease is…
View article: Mendelian gene identification through mouse embryo viability screening
Mendelian gene identification through mouse embryo viability screening Open
Supplementary files to support a manuscript entitled "Mendelian gene identification through mouse embryo viability screening"
View article: Mendelian gene identification through mouse embryo viability screening
Mendelian gene identification through mouse embryo viability screening Open
Supplementary files to support a manuscript entitled "Mendelian gene identification through mouse embryo viability screening"
View article: Prenatal phenotyping: A community effort to enhance the Human Phenotype Ontology
Prenatal phenotyping: A community effort to enhance the Human Phenotype Ontology Open
Technological advances in both genome sequencing and prenatal imaging are increasing our ability to accurately recognize and diagnose Mendelian conditions prenatally. Phenotype‐driven early genetic diagnosis of fetal genetic disease can he…
View article: Mendelian gene identification through mouse embryo viability screening
Mendelian gene identification through mouse embryo viability screening Open
The diagnostic rate of Mendelian disorders in sequencing studies continues to increase, along with the pace of novel disease gene discovery. However, variant interpretation in novel genes not currently associated with disease is particular…
View article: Mendelian gene identification through mouse embryo viability screening
Mendelian gene identification through mouse embryo viability screening Open
Supplementary files to support a manuscript entitled "Mendelian gene identification through mouse embryo viability screening"
View article: Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome
Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome Open