Familial pityriasis rubra pilaris is caused by mutations in CARD14. All Authors: Author Profiles: Publish Date: Journal: , Read Publication
Exome sequencing analysis: a guide to disease variant detection. All Authors: Author Profiles: Publish Date: Journal: , Read Publication
Meeting summary: Ethical aspects of whole exome and whole genome sequencing studies (WES/WGS) in rare diseases, Tel Aviv, Israel, January 2013. All Authors: Author Profiles: Publish Date: Journal: , Read Publication
Missense mutation in the MEN1 gene discovered through whole exome sequencing co-segregates with familial hyperparathyroidism. All Authors: Author Profiles: Publish Date: Journal: , Read Publication
Desmoglein 1 deficiency results in severe dermatitis, multiple allergies and metabolic wasting. All Authors: Author Profiles: Publish Date: Journal: , Read Publication
Cole Disease Results from Mutations in ENPP1. All Authors: Author Profiles: Publish Date: Journal: , Read Publication
Sequencing your genome: your future is here, but are you sure you want to know it? All Authors: Author Profiles: Publish Date: Journal: , Read Publication
MicroRNA editing facilitates immune elimination of HCMV infected cells. All Authors: Author Profiles: Publish Date: Journal: , Read Publication
An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge. All Authors: Author Profiles: Publish Date: Journal: , Read Publication
Emergence and transmission of arbovirus evolutionary intermediates with epidemic potential. All Authors: Author Profiles: Publish Date: Journal: , Read Publication
