A window into living with an undiagnosed disease: illness narratives from the Undiagnosed Diseases Network
Orphanet Journal of Rare Diseases

The Undiagnosed Diseases Network: Accelerating Discovery about Health and Disease
The American Journal of Human Genetics (AJHG)

A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay
The American Journal of Human Genetics (AJHG)

A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3
The American Journal of Human Genetics (AJHG)

Exome Sequencing Identifies De Novo Pathogenic Variants in FBN1 and TRPS1 in a Patient with a Complex Connective Tissue Phenotype
Cold Spring Harbor Molecular Case Studies

De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype
The American Journal of Human Genetics (AJHG)

A recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex development
Human Molecular Genetics

The NIH Undiagnosed Diseases Program and Network: Applications to modern medicine
Molecular Genetics and Metabolism

The Undiagnosed Diseases Network of the National Institutes of Health: A National Extension
The Journal of the American Medical Association (JAMA)