Will never be the same twice


Achievements and Publications


New Disease Genes Discovered


The Duke clinical site has led or contributed to the discovery of 13 new gene-disease associations and has ongoing research in many more.























Research into Psychosocial Implications of Undiagnosed Disease


A unique aspect of the Duke clinical site is our interest in the psychosocial aspects of living undiagnosed. This interest led us to develop a tool, the Genome Empowerment Scale, in order to optimize potential benefits for individuals and their families.




Early infantile epileptic encephalopathy due to biallelic pathogenic variants in PIGQ: Report of seven new subjects and review of the literature.

Journal of Inherited Metabolic Disease (2020)



Missed Diagnoses: Clinically relevant lessons learned through medical mysteries solved by the Undiagnosed Diseases Network.

Molecular Genetics & Genomic Medicine (2020)



Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder.

Brain (2020)



Alternative transcripts in variant interpretation: The potential for missed diagnoses and misdiagnoses.

Genetics in Medicine (2020)



GATAD2B-associated neurodevelopmental disorder (GAND): Genetic, clinical, and molecular insights into a NuRD-related disorder

Genetics in Medicine (2020)



Partial loss of USP9X function leads to a male neurodevelopmental and behavioral disorder converging on TGFβ signaling.

Biological Psychiatry (2020)



The Genome Empowerment Scale (GEmS): An Assessment of Parental Empowerment in Families with Undiagnosed Disease.

Clinical Genetics (2019)



Truncating variants in UBAP1 associated with childhood-onset nonsyndromic hereditary spastic paraplegia.

Human Mutation (2019)



Heterozygous variants in MYBPC1 are associated with an expanded neuromuscular phenotype beyond arthrogryposis.

Human Mutation (2019)



Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies.

Genetics in Medicine (2019)



Cases from the Undiagnosed Diseases Network: The continued value of counseling skills in a new genomic era.

Journal of Genetic Counseling (2019)



Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay.

The American Journal of Human Genetics (2019)



Psychosocial Profiles of Parents of Children with Undiagnosed Diseases: Managing Well or Just Managing?

Journal of Genetic Counseling (2018)



Further evidence for the involvement of EFL1 in a Shwachman–Diamond-like syndrome and expansion of the phenotypic features.

Molecular Case Studies (2018)



Functional variants in TBX2 are associated with a syndromic cardiovascular and skeletal developmental disorder.

Human Molecular Genetics (2018)



IRF2BPL Is Associated with Neurological Phenotypes.

The American Journal of Human Genetics (2018)



Loss of tubulin deglutamylase CCP1 causes infantile-onset neurodegeneration.

The EMBO Journal (2018)



A Comprehensive Iterative Approach is Highly Effective in Diagnosing Individuals who are Exome Negative.

Genetics in Medicine (2018)



Characteristics of undiagnosed diseases network applicants: Implications for referring providers.

BMC Health Services Research (2018)



ClinPhen extracts and prioritizes patient phenotypes directly from medical records to accelerate genetic disease diagnosis.

Genetics in Medicine (2018)



Looking beyond the exome: A phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases.

Genetics in Medicine (2018)



A window into living with an undiagnosed disease: Illness narratives from the Undiagnosed Diseases Network.

Orphanet Journal of Rare Diseases (2017)



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 (2017)



De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype.

The American Journal of Human Genetics (2017)



The Undiagnosed Diseases Network: Accelerating Discovery about Health and Disease.

The American Journal of Human Genetics (2017)









Physicians within the network collect and share high-quality clinical and laboratory data, including genomic information, clinical observations and documentation of environmental exposures. 

Box 103857, Duke University Medical Center, Durham, NC 27710 | Tel: 919 668 1340  

Duke University Medical Center