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
Spectrum of neurodevelopmental disease associated with the GNAO1 guanosine triphosphate-binding region. All Authors: Author Profiles: Publish Date: Journal: , Read Publication
Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes. All Authors: Author Profiles: Publish Date: Journal: , Read Publication
Identification of common genetic risk variants for autism spectrum disorder. All Authors: Author Profiles: Publish Date: Journal: , Read Publication
IgG4-related disease: Association with a rare gene variant expressed in cytotoxic T cells. All Authors: Author Profiles: Publish Date: Journal: , Read Publication
Heterozygous variants in MYBPC1 are associated with an expanded neuromuscular phenotype beyond arthrogryposis. All Authors: Author Profiles: Publish Date: Journal: , Read Publication
Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts. All Authors: Author Profiles: Publish Date: Journal: , Read Publication
Integrated analysis of environmental and genetic influences on cord blood DNA methylation in new-borns. All Authors: Author Profiles: Publish Date: Journal: , Read Publication
Magnetic Resonance Imaging characteristics in case of TOR1AIP1 muscular dystrophy. All Authors: Author Profiles: Publish Date: Journal: , Read Publication
Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor ß Signaling. All Authors: Author Profiles: Publish Date: Journal: , Read Publication
