In this section, documents on Undiagnosed Rare Diseases and UDNI (papers, manual of operations, SOPs, information on ongoing activities, etc.) are reported.
The UDN Manual of Operations is a handbook that details the network’s research conduct and protocols in order to facilitate consistent adherence across all institutions participating in the study.
Please contribute to this section sending us documents and articles regarding UND.
Personalised analytics for rare disease diagnostics
A flexible computational pipeline for research analyses of unsolved clinical exome cases
Barriers and Considerations for Diagnosing Rare Diseases in Indigenous Populations
Implementation and Work Design
The Undiagnosed Diseases Network International: Five years and more!
Improving diagnosis for rare diseases: the experience of the Italian undiagnosed Rare diseases network.
SMART Work Design: Accelerating the Diagnosis of Rare Diseases in the Western Australian Undiagnosed Diseases Program
HPO in 2021
Curation and expansion of Human Phenotype Ontology for defined groups of inborn errors of immunity
The Human Phenotype Ontology in 2021
Not open access
Consideration of a Legislative Framework to Support the Diagnostic Odyssey Commonly Encountered in the Instance of Rare Disease
Rights, interests and expectations: Indigenous perspectives on unrestricted access to genomic data
Novel TONSL variants cause SPONASTRIME dysplasia and associate with spontaneous chromosome breaks, defective cell proliferation and apoptosis.
Homozygous Recessive Versican Missense Variation Is Associated With Early Teeth Loss in a Pakistani Family.
Biallelic variants in the ciliary gene TMEM67 cause RHYNS syndrome.
Missense variants in TAF1 and developmental phenotypes: challenges of determining pathogenicity
Autosomal recessive congenital ichthyosis due to homozygous variants in NIPAL4 with a dramatic response to ustekinumab
Genome project aims to diagnose patients with rare diseases
Undiagnosed Disease Program (UDP)
International Joint Recommendations to Address Specific Needs Of Undiagnosed Rare Disease Patients
Diagnosing rare diseases: A sociotechnical approach to the design of complex work systems
Meeting Patients' Right to the Correct Diagnosis: Ongoing International Initiatives on Undiagnosed Rare Diseases and Ethical and Social Issues.
Undiagnosed Diseases: Italy-US Collaboration and International Efforts to Tackle Rare and Common Diseases Lacking a Diagnosis.
Capturing Team Dynamics in the Wild: The Communication Analysis Tool