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The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data
TLDR
The Human Phenotype Ontology project, available at http://www.human-phenotype-ontology.org, provides a structured, comprehensive and well-defined set of 10,088 classes (terms) describing human phenotypic abnormalities and 13,326 subclass relations between the HPO classes. Expand
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Identification of Functional Elements and Regulatory Circuits by Drosophila modENCODE
TLDR
Drosophila model organism Encyclopedia of DNA Elements (modENCODE) project is comprehensively mapping transcripts, histone modifications, chromosomal proteins, transcription factors, replication proteins and intermediates, and nucleosome properties across a developmental time course and in multiple cell lines. Expand
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Integrative Analysis of the Caenorhabditis elegans Genome by the modENCODE Project
From Genome to Regulatory Networks For biologists, having a genome in hand is only the beginning—much more investigation is still needed to characterize how the genome is used to help to produce aExpand
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Linking Human Diseases to Animal Models Using Ontology-Based Phenotype Annotation
A novel method for quantifying the similarity between phenotypes by the use of ontologies can be used to search for candidate genes, pathway members, and human disease models on the basis ofExpand
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The Monarch Initiative: an integrative data and analytic platform connecting phenotypes to genotypes across species
TLDR
The Monarch Initiative is a collaborative, open science effort that aims to semantically integrate genotype–phenotype data from many species and sources in order to support precision medicine, disease modeling, and mechanistic exploration. Expand
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FER-1 regulates Ca2+-mediated membrane fusion during C. elegans spermatogenesis
FER-1 is required for fusion of specialized vesicles, called membranous organelles, with the sperm plasma membrane during Caenorhabditis elegans spermiogenesis. To investigate its role in membranousExpand
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The Human Phenotype Ontology: Semantic Unification of Common and Rare Disease
The Human Phenotype Ontology (HPO) is widely used in the rare disease community for differential diagnostics, phenotype-driven analysis of next-generation sequence-variation data, and translationalExpand
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Next-generation diagnostics and disease-gene discovery with the Exomiser
Exomiser is an application that prioritizes genes and variants in next-generation sequencing (NGS) projects for novel disease-gene discovery or differential diagnostics of Mendelian disease. ExomiserExpand
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A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian Disease.
The interpretation of non-coding variants still constitutes a major challenge in the application of whole-genome sequencing in Mendelian disease, especially for single-nucleotide and other smallExpand
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Patterns of Molecular Evolution in Caenorhabditis Preclude Ancient Origins of Selfing
The evolution of self-fertilization can mediate pronounced changes in genomes as a by-product of a drastic reduction in effective population size and the concomitant accumulation of slightlyExpand
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