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.

Analytics

Personalised analytics for rare disease diagnostics

https://pubmed.ncbi.nlm.nih.gov/31754101/

 

A flexible computational pipeline for research analyses of unsolved clinical exome cases

https://pubmed.ncbi.nlm.nih.gov/33303739/

 

Indigenous

Barriers and Considerations for Diagnosing Rare Diseases in Indigenous Populations

https://pubmed.ncbi.nlm.nih.gov/33381478/

 

Implementation and Work Design

The Undiagnosed Diseases Network International: Five years and more!

https://pubmed.ncbi.nlm.nih.gov/32033911/

 

Improving diagnosis for rare diseases: the experience of the Italian undiagnosed Rare diseases network.

https://ijponline.biomedcentral.com/articles/10.1186/s13052-020-00883-8

 

SMART Work Design: Accelerating the Diagnosis of Rare Diseases in the Western Australian Undiagnosed Diseases Program

https://pubmed.ncbi.nlm.nih.gov/33072663/

 

HPO in 2021

Curation and expansion of Human Phenotype Ontology for defined groups of inborn errors of immunity

https://www.jacionline.org/article/S0091-6749(21)00732-6/abstract 

The Human Phenotype Ontology in 2021

https://pubmed.ncbi.nlm.nih.gov/33264411/

 

Not open access

Consideration of a Legislative Framework to Support the Diagnostic Odyssey Commonly Encountered in the Instance of Rare Disease

https://pubmed.ncbi.nlm.nih.gov/32406626/

 

Rights, interests and expectations: Indigenous perspectives on unrestricted access to genomic data

https://pubmed.ncbi.nlm.nih.gov/32251390/

 

Case reports 

Novel TONSL variants cause SPONASTRIME dysplasia and associate with spontaneous chromosome breaks, defective cell proliferation and apoptosis.

https://pubmed.ncbi.nlm.nih.gov/32959051/

 

Homozygous Recessive Versican Missense Variation Is Associated With Early Teeth Loss in a Pakistani Family.

https://pubmed.ncbi.nlm.nih.gov/30740127/

 

Biallelic variants in the ciliary gene TMEM67 cause RHYNS syndrome.

https://pubmed.ncbi.nlm.nih.gov/29891882/

 

Missense variants in TAF1 and developmental phenotypes: challenges of determining pathogenicity

https://pubmed.ncbi.nlm.nih.gov/31646703/ 

 

Autosomal recessive congenital ichthyosis due to homozygous variants in NIPAL4 with a dramatic response to ustekinumab

https://pubmed.ncbi.nlm.nih.gov/31532840/

 

Word design 

Genome project aims to diagnose patients with rare diseases

https://www.udninternational.org/documenti/schede/genome_project_aims_to_diagnose_patients_with_rare_diseases.PDF

 

Undiagnosed Disease Program (UDP)

https://www.kemh.health.wa.gov.au/Our-services/Service-directory/Genetic-Services-of-Western-Australia/Undiagnosed-Disease-Program

 

International Joint Recommendations to Address Specific Needs Of Undiagnosed Rare Disease Patients

http://download2.eurordis.org.s3.amazonaws.com/documents/pdf/Undiagnosed-International-Joint-Recommendations.pdf

 

Diagnosing rare diseases: A sociotechnical approach to the design of complex work systems

https://www.sciencedirect.com/science/article/abs/pii/S0003687020300582?via%3Dihub  

 

Meeting Patients' Right to the Correct Diagnosis: Ongoing International Initiatives on Undiagnosed Rare Diseases and Ethical and Social Issues.

https://pubmed.ncbi.nlm.nih.gov/30248891/

 

Undiagnosed Diseases: Italy-US Collaboration and International Efforts to Tackle Rare and Common Diseases Lacking a Diagnosis.

https://pubmed.ncbi.nlm.nih.gov/29214564/

 

Capturing Team Dynamics in the Wild: The Communication Analysis Tool

https://journals.sagepub.com/doi/10.1177/1046496420904126