Automated typing of red blood cell and platelet antigens: a whole-genome sequencing study. All Authors: Author Profiles: Publish Date: Journal: , Read Publication
A comprehensive iterative approach is highly effective in diagnosing individuals who are exome negative. All Authors: Author Profiles: Publish Date: Journal: , Read Publication
IRF2BPL Is Associated with Neurological Phenotypes. All Authors: Author Profiles: Publish Date: Journal: , Read Publication
Association of Whole-Genome and NETRIN1 Signaling Pathway-Derived Polygenic Risk Scores for Major Depressive Disorder and White Matter Microstructure in the UK Biobank. All Authors: Author Profiles: Publish Date: Journal: , Read Publication
Characteristics of undiagnosed diseases network applicants: implications for referring providers. All Authors: Author Profiles: Publish Date: Journal: , Read Publication
IRF2BPL Is Associated with Neurological Phenotypes. All Authors: Author Profiles: Publish Date: Journal: , Read Publication
Further evidence for the involvement of EFL1 in a Shwachman-Diamond-like syndrome and expansion of the phenotypic features. All Authors: Author Profiles: Publish Date: Journal: , Read Publication
Applying polygenic risk scoring for psychiatric disorders to a large family with bipolar disorder and major depressive disorder. All Authors: Author Profiles: Publish Date: Journal: , Read Publication
Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay. All Authors: Author Profiles: Publish Date: Journal: , Read Publication
A whole genome approach for discovering the genetic basis of blood group antigens: independent confirmation for P1 and Xga. All Authors: Author Profiles: Publish Date: Journal: , Read Publication
