Genetic Variations and Diseases in UniProtKB/Swiss-Prot: The Ins and Outs of Expert Manual Curation

Expert curation in UniProtKB: a case study on dealing with conflicting and erroneous data

(2014) S. Poux et al.   Database-The Journal of Biological Databases and Curation

XLID-Causing Mutations and Associated Genes Challenged in Light of Data From Large-Scale Human Exome Sequencing

(2013) Amélie Piton et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Expanding Horizons: Ciliary Proteins Reach Beyond Cilia

(2013) Shiaulou Yuan et al.   Annual Review of Genetics

WS-SNPs&GO: a web server for predicting the deleterious effect of human protein variants using functional annotation

(2013) Emidio Capriotti et al.   BMC GENOMICS

Determining pathogenicity of genetic variants in hypertrophic cardiomyopathy: importance of periodic reassessment

(2013) Jipin Das K et al.   GENETICS IN MEDICINE

Variation Ontology for annotation of variation effects and mechanisms

(2013) M. Vihinen   GENOME RESEARCH

Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease

(2013) David N. Cooper et al.   HUMAN GENETICS

Using Reference Databases of Genetic Variation to Evaluate the Potential Pathogenicity of Candidate Disease Variants

(2013) Kevin P. Kenna et al.   HUMAN MUTATION

Proteins and Domains Vary in Their Tolerance of Non-Synonymous Single Nucleotide Polymorphisms (nsSNPs)

(2013) Christopher M. Yates et al.   JOURNAL OF MOLECULAR BIOLOGY

Locus Reference Genomic: reference sequences for the reporting of clinically relevant sequence variants

(2013) Jacqueline A. L. MacArthur et al.   NUCLEIC ACIDS RESEARCH

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

(2013) Sebastian Köhler et al.   NUCLEIC ACIDS RESEARCH

Next-generation sequencing in health-care delivery: lessons from the functional analysis of rhodopsin

(2012) Wayne I.L. Davies et al.   GENETICS IN MEDICINE

Predicting the Functional, Molecular, and Phenotypic Consequences of Amino Acid Substitutions using Hidden Markov Models

(2012) Hashem A. Shihab et al.   HUMAN MUTATION

Representation of rare diseases in health information systems: The orphanet approach to serve a wide range of end users

(2012) Ana Rath et al.   HUMAN MUTATION

Intrinsic Protein-Protein Interaction-mediated and Chaperonin-assisted Sequential Assembly of Stable Bardet-Biedl Syndrome Protein Complex, the BBSome

(2012) Qihong Zhang et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

An integrated map of genetic variation from 1,092 human genomes

(2012)   NATURE

Evolution and Functional Impact of Rare Coding Variation from Deep Sequencing of Human Exomes

(2012) J. A. Tennessen et al.   SCIENCE

Human diseases through the lens of network biology

(2012) Laura I. Furlong   TRENDS IN GENETICS

Performance of mutation pathogenicity prediction methods on missense variants

(2011) Janita Thusberg et al.   HUMAN MUTATION

TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum

(2011) Erica E Davis et al.   NATURE GENETICS

Ciliopathies: an expanding disease spectrum

(2011) Aoife M. Waters et al.   PEDIATRIC NEPHROLOGY

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

Network medicine: a network-based approach to human disease

(2010) Albert-László Barabási et al.   NATURE REVIEWS GENETICS

Locus Reference Genomic sequences: an improved basis for describing human DNA variants

(2010) Raymond Dalgleish et al.   Genome Medicine

A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies

(2009) Hemant Khanna et al.   NATURE GENETICS

Next-generation DNA sequencing

(2008) Jay Shendure et al.   NATURE BIOTECHNOLOGY