Genetic determinants of blood-cell traits influence susceptibility to childhood acute lymphoblastic leukemia. Read more about Genetic determinants of blood-cell traits influence susceptibility to childhood acute lymphoblastic leukemia.
Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism. Read more about Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism.
Opportunities and challenges for the computational interpretation of rare variation in clinically important genes. Read more about Opportunities and challenges for the computational interpretation of rare variation in clinically important genes.
Discovery and fine-mapping of height loci via high-density imputation of GWASs in individuals of African ancestry. Read more about Discovery and fine-mapping of height loci via high-density imputation of GWASs in individuals of African ancestry.
Clinical Genetics Lacks Standard Definitions and Protocols for the Collection and Use of Diversity Measures. Read more about Clinical Genetics Lacks Standard Definitions and Protocols for the Collection and Use of Diversity Measures.
Redefining the Etiologic Landscape of Cerebellar Malformations. Read more about Redefining the Etiologic Landscape of Cerebellar Malformations.
De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia. Read more about De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia.
Activating Mutations of RRAS2 Are a Rare Cause of Noonan Syndrome. Read more about Activating Mutations of RRAS2 Are a Rare Cause of Noonan Syndrome.
The Genomic Medicine Integrative Research Framework: A Conceptual Framework for Conducting Genomic Medicine Research. Read more about The Genomic Medicine Integrative Research Framework: A Conceptual Framework for Conducting Genomic Medicine Research.
COL4A1 Mutations Cause Neuromuscular Disease with Tissue-Specific Mechanistic Heterogeneity. Read more about COL4A1 Mutations Cause Neuromuscular Disease with Tissue-Specific Mechanistic Heterogeneity.
