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.

Publications

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)

https://pubmed.ncbi.nlm.nih.gov/32588908/

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

Molecular Genetics & Genomic Medicine (2020)

https://onlinelibrary.wiley.com/doi/full/10.1002/mgg3.1397 

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

Brain (2020)

https://pubmed.ncbi.nlm.nih.gov/32761064/ 

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

Genetics in Medicine (2020)

https://www.nature.com/articles/s41436-020-0781-x 

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

Genetics in Medicine (2020)

https://pubmed.ncbi.nlm.nih.gov/31949314/ 

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

Biological Psychiatry (2020)

https://www.biologicalpsychiatryjournal.com/article/S0006-3223(19)31479-9/abstract

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

Clinical Genetics (2019)

https://onlinelibrary.wiley.com/doi/full/10.1111/cge.13635 

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

Human Mutation (2019)

https://onlinelibrary.wiley.com/doi/full/10.1002/humu.23950 

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

Human Mutation (2019)

https://www.ncbi.nlm.nih.gov/pubmed/31264822 

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

Genetics in Medicine (2019)

https://www.ncbi.nlm.nih.gov/pubmed/30679821 

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

Journal of Genetic Counseling (2019)

https://onlinelibrary.wiley.com/doi/full/10.1002/jgc4.1091 

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)

https://www.ncbi.nlm.nih.gov/pubmed/30580808

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

Journal of Genetic Counseling (2018)

https://www.ncbi.nlm.nih.gov/pubmed/29297108

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

Molecular Case Studies (2018)

https://www.ncbi.nlm.nih.gov/pubmed/29970384

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

Human Molecular Genetics (2018)

https://www.ncbi.nlm.nih.gov/pubmed/29726930 

IRF2BPL Is Associated with Neurological Phenotypes.

The American Journal of Human Genetics (2018)

https://www.ncbi.nlm.nih.gov/pubmed/30057031 

Loss of tubulin deglutamylase CCP1 causes infantile-onset neurodegeneration.

The EMBO Journal (2018)

https://www.embopress.org/doi/full/10.15252/embj.2018100540 

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

Genetics in Medicine (2018)

https://pubmed.ncbi.nlm.nih.gov/29907797/ 

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

BMC Health Services Research (2018)

https://www.ncbi.nlm.nih.gov/pubmed/30134969 

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

Genetics in Medicine (2018)

https://www.ncbi.nlm.nih.gov/pubmed/30514889 

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

Genetics in Medicine (2018)

https://www.ncbi.nlm.nih.gov/pubmed/28914269

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

Orphanet Journal of Rare Diseases (2017)

https://www.ncbi.nlm.nih.gov/pubmed/28416019 

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)

https://www.ncbi.nlm.nih.gov/pubmed/28132692 

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

The American Journal of Human Genetics (2017)

https://www.ncbi.nlm.nih.gov/pubmed/27693232 

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

The American Journal of Human Genetics (2017)

https://www.ncbi.nlm.nih.gov/pubmed/28157539

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