De novo variants in DENND5B cause a neurodevelopmental disorder. All Authors: Author Profiles: Publish Date: Journal: , Read Publication
Exome and genome sequencing in a heterogeneous population of patients with rare disease: Identifying predictors of a diagnosis. All Authors: Author Profiles: Publish Date: Journal: , Read Publication
Recurrent ATP1A1 variant Gly903Arg causes developmental delay, intellectual disability, and autism. All Authors: Author Profiles: Publish Date: Journal: , Read Publication
Undiagnosed Disease Network collaborative approach in diagnosing rare disease in a patient with a mosaic CACNA1D variant. All Authors: Author Profiles: Publish Date: Journal: , Read Publication
Loss of function of FAM177A1, a Golgi complex localized protein, causes a novel neurodevelopmental disorder. All Authors: Author Profiles: Publish Date: Journal: , Read Publication
BioNØT: a searchable database of biomedical negated sentences. All Authors: Author Profiles: Publish Date: Journal: , Read Publication
Deeper, longer phenotyping to accelerate the discovery of the genetic architectures of diseases. All Authors: Author Profiles: Publish Date: Journal: , Read Publication
Effectiveness of a third dose of the BNT162b2 mRNA COVID-19 vaccine for preventing severe outcomes in Israel: an observational study. All Authors: Author Profiles: Publish Date: Journal: , Read Publication
Longitudinal imaging history in early identification of intimate partner violence. All Authors: Author Profiles: Publish Date: Journal: , Read Publication
Integrative multiomics-histopathology analysis for breast cancer classification. All Authors: Author Profiles: Publish Date: Journal: , Read Publication