Documents and Scientific articles

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.


Low Middle Income Countries and undiagnosed rare diseases

Undiagnosed diseases: Needs and opportunities in 20 countries participating in the Undiagnosed Diseases Network International

Unmet needs in countries participating in the undiagnosed diseases network international: an international survey considering national health care and economic indicators



Surfacing undiagnosed disease: consideration, counting and coding


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


Case reports 

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


Word design 

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