Publications
Model Organisms Facilitate Rare Disease Diagnosis and Therapeutic Research
September 1, 2017Genetics
Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders
August 14, 2017Genome Medicine
Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially
July 24, 2017PLoS Genetics
MARRVEL: Integration of Human and Model Organism Genetic Resources to Facilitate Functional Annotation of the Human Genome
May 11, 2017The American Journal of Human Genetics
Expanding the phenotypic spectrum of GABRG2 variants: a recurrent GABRG2 missense variant associated with a severe phenotype
May 2, 2017Journal of Neurogenetics
A window into living with an undiagnosed disease: illness narratives from the Undiagnosed Diseases Network
April 17, 2017Orphanet Journal of Rare Diseases
The Undiagnosed Diseases Network: Accelerating Discovery about Health and Disease
February 2, 2017The American Journal of Human Genetics
A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay
January 26, 2017The American Journal of Human Genetics
A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3
January 5, 2017The American Journal of Human Genetics
Exome Sequencing Identifies De Novo Pathogenic Variants in FBN1 and TRPS1 in a Patient with a Complex Connective Tissue Phenotype
November 11, 2016Cold Spring Harbor Molecular Case Studies
De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype
November 6, 2016The American Journal of Human Genetics
A recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex development
July 4, 2016Human Molecular Genetics
The NIH Undiagnosed Diseases Program and Network: Applications to modern medicine
January 22, 2016Molecular Genetics and Metabolism
The Undiagnosed Diseases Network of the National Institutes of Health: A National Extension
November 3, 2015The Journal of the American Medical Association