ITGB8 is a candidate disease gene for autosomal dominant and recessive trait forms of muscular dystrophy and neurological disease Read more about ITGB8 is a candidate disease gene for autosomal dominant and recessive trait forms of muscular dystrophy and neurological disease
Integrating Genomic and Phenotypic Analyses of Autonomic Nervous System Dysfunction in a Rare Neurological Disease Cohort Read more about Integrating Genomic and Phenotypic Analyses of Autonomic Nervous System Dysfunction in a Rare Neurological Disease Cohort
Genome-wide investigation of potentially pathogenic copy number variants & mechanisms fomenting their origins Read more about Genome-wide investigation of potentially pathogenic copy number variants & mechanisms fomenting their origins
FOXI3 pathogenic variants cause one form of craniofacial microsomia Read more about FOXI3 pathogenic variants cause one form of craniofacial microsomia
Deleterious SNAPC4 Variants are Associated with a Neurodevelopmental Disorder Read more about Deleterious SNAPC4 Variants are Associated with a Neurodevelopmental Disorder
Biallelic RAD51C loss-of-function variants drive perizygotic SNV/indel hypermutator phenotype in a subject with Fanconi anemia complementation group O Read more about Biallelic RAD51C loss-of-function variants drive perizygotic SNV/indel hypermutator phenotype in a subject with Fanconi anemia complementation group O
Bi-allelic variants in SPOUT1, an RNA methyltransferase functioning in spindle organization, cause a novel neurodevelopment disorder Read more about Bi-allelic variants in SPOUT1, an RNA methyltransferase functioning in spindle organization, cause a novel neurodevelopment disorder
A reverse genetics and genomics approach to gene paralog function and disease: Myokymia and the juxtaparanode Read more about A reverse genetics and genomics approach to gene paralog function and disease: Myokymia and the juxtaparanode
A multiomics approach to resolving small supernumerary marker chromosomes Read more about A multiomics approach to resolving small supernumerary marker chromosomes
Performance of diagnostic methods in identifying disease-causing variants: assessment of the Rare Genomes Project CAGI challenge Read more about Performance of diagnostic methods in identifying disease-causing variants: assessment of the Rare Genomes Project CAGI challenge
