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
