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List of works by Cynthia L Smith

Allele, phenotype and disease data at Mouse Genome Informatics: improving access and analysis

scientific article

Analysis of DNA restriction fragments greater than 5.7 Mb in size from the centromeric region of human chromosomes

scientific article

Annotated expression and activity data for murine recombinase alleles and transgenes: the CrePortal resource

scientific article published on 04 September 2021

Corralling conditional mutations: A unified resource for mouse phenotypes

article

Disease Ontology: improving and unifying disease annotations across species.

scientific article

Disease model curation improvements at Mouse Genome Informatics

scientific article published on 20 March 2012

Expanding the mammalian phenotype ontology to support automated exchange of high throughput mouse phenotyping data generated by large-scale mouse knockout screens

scientific article

Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources

article by Sebastian Köhler et al published 8 January 2019 in Nucleic Acids Research

Getting ready for the Human Phenome Project: the 2012 forum of the Human Variome Project

scientific article

Global genetic analysis in mice unveils central role for cilia in congenital heart disease

scientific article

Improving ontologies by automatic reasoning and evaluation of logical definitions

scientific article

Integrating phenotype ontologies across multiple species

scientific article

Integration of Mouse Phenome Data Resources

Integrative annotation and knowledge discovery of kinase post-translational modifications and cancer-associated mutations through federated protein ontologies and resources.

scientific article

Know Your Model: A knockout does not always make a null

scientific article published on 01 March 2020

Know Your Model: How essential is that essential gene?

scientific article published on 01 January 2020

Know Your Model: Microbiota & phenotypes

scientific article published on 08 October 2020

Know Your Model: Recombinase-expressing mice

scientific article published on 08 June 2020

Know Your Model: The role of sex in phenotype penetrance and severity

scientific article published on 27 July 2020

Know Your Model: When parental origin matters

scientific article published on 01 June 2020

Mouse Genome Database (MGD) 2019

scholarly article by Carol J Bult et al published 8 November 2018 in Nucleic Acids Research

Mouse Genome Database (MGD)-2018: knowledgebase for the laboratory mouse

scientific article published on 30 October 2017

Mouse Genome Database (MGD): Knowledgebase for mouse-human comparative biology

scientific article published on 24 November 2020

Mouse Genome Database: From sequence to phenotypes and disease models

scientific article

Mouse Genome Informatics (MGI): latest news from MGD and GXD

scientific article published on 26 October 2021

Mouse Phenotype Database Integration Consortium: integration [corrected] of mouse phenome data resources

scientific article

MouseFinder: Candidate disease genes from mouse phenotype data

scientific article

Naming CRISPR alleles: endonuclease-mediated mutation nomenclature across species

scientific article published on 06 June 2017

Phenotypic overlap in the contribution of individual genes to CNV pathogenicity revealed by cross-species computational analysis of single-gene mutations in humans, mice and zebrafish

scientific article published on 25 October 2012

The Gene Ontology knowledgebase in 2023

scientific article published in 2023

The Human Phenotype Ontology in 2024: phenotypes around the world

scientific article published in 2023

The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data

scientific article (publication date: 2014)

The International Mouse Strain Resource (IMSR): cataloging worldwide mouse and ES cell line resources

scientific article

The Mammalian Phenotype Ontology as a unifying standard for experimental and high-throughput phenotyping data

scientific article

The Vertebrate Trait Ontology: a controlled vocabulary for the annotation of trait data across species

scientific article

The mammalian phenotype ontology: enabling robust annotation and comparative analysis

scientific article

The receptor tyrosine kinase MuSK is required for neuromuscular junction formation in vivo

scientific article

Ventralizing signal determined by protease activation in Drosophila embryogenesis.

scientific article published in April 1994

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