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An N‐Ethyl‐N‐Nitrosourea (ENU)‐Induced Tyr265Stop Mutation of the DNA Polymerase Accessory Subunit Gamma 2 (Polg2) Is Associated With Renal Calcification in Mice.
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- Journal of Bone & Mineral Research, 2019, v. 34, n. 3, p. 497, doi. 10.1002/jbmr.3624
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- Article
International Mouse Phenotyping Consortium: comprehensive knockout phenotyping underpinning the study of human disease.
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- Nucleic Acids Research, 2023, v. 51, n. D1, p. D1038, doi. 10.1093/nar/gkac972
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- Publication type:
- Article
Identification of genetic elements in metabolism by high-throughput mouse phenotyping.
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- Nature Communications, 2018, v. 9, n. 1, p. 1, doi. 10.1038/s41467-017-01995-2
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- Article
Protection Against XY Gonadal Sex Reversal by a Variant Region on Mouse Chromosome 13.
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- Genetics, 2020, v. 214, n. 2, p. 467, doi. 10.1534/genetics.119.302786
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- Article
Defects in whirlin, a PDZ domain molecule involved in stereocilia elongation, cause deafness in the whirler mouse and families with DFNB31.
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- Nature Genetics, 2003, v. 34, n. 4, p. 421, doi. 10.1038/ng1208
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- Article
Advancing data science in drug development through an innovative computational framework for data sharing and statistical analysis.
- Published in:
- 2021
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- Publication type:
- journal article
Unlocking the Bottleneck in Forward Genetics Using Whole-Genome Sequencing and Identity by Descent to Isolate Causative Mutations.
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- PLoS Genetics, 2013, v. 9, n. 1, p. 1, doi. 10.1371/journal.pgen.1003219
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- Article
The digital revolution in phenotyping.
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- Briefings in Bioinformatics, 2016, v. 17, n. 5, p. 819, doi. 10.1093/bib/bbv083
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- Publication type:
- Article
A holistic view of mouse enhancer architectures reveals analogous pleiotropic effects and correlation with human disease.
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- BMC Genomics, 2020, v. 21, n. 1, p. 1, doi. 10.1186/s12864-020-07109-5
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- Publication type:
- Article
Practical application of ontologies to annotate and analyse large scale raw mouse phenotype data.
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- BMC Bioinformatics, 2009, v. 10, p. 1, doi. 10.1186/1471-2105-10-S5-S2
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- Article
Introduction to Mammalian Genome Special Issue: Mammalian Genetic Resources.
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- 2022
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- Publication type:
- Editorial
Current strategies for mutation detection in phenotype-driven screens utilising next generation sequencing.
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- Mammalian Genome, 2015, v. 26, n. 9/10, p. 486, doi. 10.1007/s00335-015-9603-x
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- Publication type:
- Article
Introduction to Mammalian Genome special issue: Informatics and Integrative Genomics-Part 2.
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- 2015
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- Publication type:
- Editorial
Introduction to Mammalian Genome special issue: Informatics and Integrative Genomics-Part 1.
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- 2015
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- Publication type:
- Editorial
Analyzing gene expression data in mice with the Neuro Behavior Ontology.
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- Mammalian Genome, 2014, v. 25, n. 1/2, p. 32, doi. 10.1007/s00335-013-9481-z
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- Publication type:
- Article
Mouse large-scale phenotyping initiatives: overview of the European Mouse Disease Clinic (EUMODIC) and of the Wellcome Trust Sanger Institute Mouse Genetics Project.
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- Mammalian Genome, 2012, v. 23, n. 9/10, p. 600, doi. 10.1007/s00335-012-9418-y
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- Publication type:
- Article
High throughput sequencing approaches to mutation discovery in the mouse.
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- Mammalian Genome, 2012, v. 23, n. 9/10, p. 499, doi. 10.1007/s00335-012-9424-0
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- Publication type:
- Article
Accessing data from the International Mouse Phenotyping Consortium: state of the art and future plans.
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- Mammalian Genome, 2012, v. 23, n. 9/10, p. 641, doi. 10.1007/s00335-012-9428-9
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- Publication type:
- Article
Mouse, man, and meaning: bridging the semantics of mouse phenotype and human disease.
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- Mammalian Genome, 2009, v. 20, n. 8, p. 457, doi. 10.1007/s00335-009-9208-3
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- Publication type:
- Article
Making sense of the linear genome, gene function and TADs.
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- Epigenetics & Chromatin, 2022, v. 15, n. 1, p. 1, doi. 10.1186/s13072-022-00436-9
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- Publication type:
- Article
Making sense of the linear genome, gene function and TADs.
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- Epigenetics & Chromatin, 2022, v. 15, n. 1, p. 1, doi. 10.1186/s13072-022-00436-9
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- Publication type:
- Article
Genetic Factors Regulating Lung Vasculature and Immune Cell Functions Associate with Resistance to Pneumococcal Infection.
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- PLoS ONE, 2014, v. 9, n. 3, p. 1, doi. 10.1371/journal.pone.0089831
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- Publication type:
- Article
The gene mutated in bare patches and striated mice encodes a novel 3β-hydroxysteroid dehydrogenase.
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- Nature Genetics, 1999, v. 22, n. 2, p. 182, doi. 10.1038/9700
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- Publication type:
- Article
Anatomy ontologies and potential users: bridging the gap.
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- Journal of Biomedical Semantics, 2011, v. 2, n. Suppl 4, p. 1, doi. 10.1186/2041-1480-2-S4-S3
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- Publication type:
- Article
OpenStats: A robust and scalable software package for reproducible analysis of high-throughput phenotypic data.
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- PLoS ONE, 2020, v. 15, n. 12, p. 1, doi. 10.1371/journal.pone.0242933
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- Publication type:
- Article
Corrigendum: Comparative visualization of genotype-phenotype relationships.
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- Nature Methods, 2015, v. 12, n. 11, p. 1098, doi. 10.1038/nmeth1115-1098c
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- Publication type:
- Article
Comparative visualization of genotype-phenotype relationships.
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- Nature Methods, 2015, v. 12, n. 8, p. 698, doi. 10.1038/nmeth.3477
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- Publication type:
- Article
Correction of the auditory phenotype in C57BL/6N mice via CRISPR/Cas9-mediated homology directed repair.
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- Genome Medicine, 2016, v. 8, p. 1, doi. 10.1186/s13073-016-0273-4
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- Publication type:
- Article
Multivariate phenotype analysis enables genome-wide inference of mammalian gene function.
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- PLoS Biology, 2022, v. 20, n. 8, p. 1, doi. 10.1371/journal.pbio.3001723
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- Publication type:
- Article
EuroPhenome: a repository for high-throughput mouse phenotyping data.
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- Nucleic Acids Research, 2010, v. 38, p. D577, doi. 10.1093/nar/gkp1007
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- Publication type:
- Article
MouseBook: an integrated portal of mouse resources.
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- Nucleic Acids Research, 2010, v. 38, p. D593, doi. 10.1093/nar/gkp867
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- Publication type:
- Article
EMMA--mouse mutant resources for the international scientific community.
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- Nucleic Acids Research, 2010, v. 38, p. D570, doi. 10.1093/nar/gkp799
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- Article
EuroPhenome and EMPReSS: online mouse phenotyping resource.
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- Nucleic Acids Research, 2008, v. 36, p. D715
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- Publication type:
- Article
A mutation in Nischarin causes otitis media via LIMK1 and NF-κB pathways.
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- PLoS Genetics, 2017, v. 13, n. 8, p. 1, doi. 10.1371/journal.pgen.1006969
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- Publication type:
- Article
Phenobabelomics--mouse phenotype data resources.
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- Briefings in Functional Genomics & Proteomics, 2007, v. 6, n. 4, p. 292
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- Publication type:
- Article
The Early Detection of Neurodegenerative diseases initiative: an international and multidisciplinary effort for transforming the early detection of dementia‐causing diseases.
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- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2023, v. 19, p. 1, doi. 10.1002/alz.062434
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- Article
Genic constraint against nonsynonymous variation across the mouse genome.
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- BMC Genomics, 2023, v. 24, n. 1, p. 1, doi. 10.1186/s12864-023-09637-2
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- Publication type:
- Article