Deep phenotyping for precision medicine

Large-scale objective association of mouse phenotypes with human symptoms through structural variation identified in patients with developmental disorders

(2012) Hannah Boulding et al.   HUMAN MUTATION

Back to the future: From genome to metabolome

(2012) Joseph V. Thakuria et al.   HUMAN MUTATION

Integration of global resources for human genetic variation and disease

(2012) Paul N. Schofield et al.   HUMAN MUTATION

Observ-OM and Observ-TAB: Universal syntax solutions for the integration, search, and exchange of phenotype and genotype information

(2012) Tomasz Adamusiak et al.   HUMAN MUTATION

Using PhenX measures to identify opportunities for cross-study analysis

(2012) Huaqin Pan et al.   HUMAN MUTATION

Standard terminology for phenotypic variations: The Elements of Morphology project, its current progress, and future directions

(2012) John C. Carey et al.   HUMAN MUTATION

Large-scale objective phenotyping of 3D facial morphology

(2012) Peter Hammond et al.   HUMAN MUTATION

Phenotypic information in genomic variant databases enhances clinical care and research: The international standards for cytogenomic arrays consortium experience

(2012) Erin Rooney Riggs et al.   HUMAN MUTATION

MouseFinder: Candidate disease genes from mouse phenotype data

(2012) Chao-Kung Chen et al.   HUMAN MUTATION

ApiNATOMY: A novel toolkit for visualizing multiscale anatomy schematics with phenotype-related information

(2012) Bernard de Bono et al.   HUMAN MUTATION

Knowledge engineering for health: A new discipline required to bridge the “ICT gap” between research and healthcare

(2012) Tim Beck et al.   HUMAN MUTATION

Next-generation sequencing demands next-generation phenotyping

(2012) Raoul C.M. Hennekam et al.   HUMAN MUTATION

Mouse genetic and phenotypic resources for human genetics

(2012) Paul N. Schofield 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

Three-dimensional reconstruction of protein networks provides insight into human genetic disease

(2012) Xiujuan Wang et al.   NATURE BIOTECHNOLOGY

Whole-animal imaging, gene function, and the Zebrafish Phenome Project

(2011) Keith C Cheng et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

The role of the molecular footprint of EGFR in tailoring treatment decisions in NSCLC: Figure 1

(2011) Kathy Gately et al.   JOURNAL OF CLINICAL PATHOLOGY

Helicobacter pylori and gastritis: Untangling a complex relationship 27 years on

(2011) Victoria P Y Tan et al.   JOURNAL OF GASTROENTEROLOGY AND HEPATOLOGY

Lebrikizumab Treatment in Adults with Asthma

(2011) Jonathan Corren et al.   NEW ENGLAND JOURNAL OF MEDICINE

Mouse Phenome Database (MPD)

(2011) Terry P. Maddatu et al.   NUCLEIC ACIDS RESEARCH

Frequency of Sleep Apnea in Adults With the Marfan Syndrome

(2010) Meike Rybczynski et al.   AMERICAN JOURNAL OF CARDIOLOGY

Psoriasis and Systemic Inflammatory Diseases: Potential Mechanistic Links between Skin Disease and Co-Morbid Conditions

(2010) Batya B. Davidovici et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

What new cell biology findings could bring to therapeutics: is it time for a phenome-project in Toxoplasma gondii?

(2010) Markus Meissner et al.   MEMORIAS DO INSTITUTO OSWALDO CRUZ

Mutations in Smooth Muscle Alpha-Actin (ACTA2) Cause Coronary Artery Disease, Stroke, and Moyamoya Disease, Along with Thoracic Aortic Disease

(2009) Dong-Chuan Guo et al.   AMERICAN JOURNAL OF HUMAN GENETICS

National BioResource Project-Rat and Related Activities

(2009) Tadao SERIKAWA et al.   EXPERIMENTAL ANIMALS

Capturing all disease-causing mutations for clinical and research use: Toward an effortless system for the Human Variome Project

(2009) Richard G H Cotton et al.   GENETICS IN MEDICINE

The Human Phenotype Ontology: A Tool for Annotating and Analyzing Human Hereditary Disease

(2008) Peter N. Robinson et al.   AMERICAN JOURNAL OF HUMAN GENETICS

GENETICS: The Human Variome Project

(2008) R. G. H. Cotton et al.   SCIENCE

The prevalence of obstructive sleep apnoea and its association with aortic dilatation in Marfan's syndrome

(2008) M Kohler et al.   THORAX