A recurrent, homozygous EMC10 frameshift variant is associated with a syndrome of developmental delay with variable seizures and dysmorphic features. Read more about A recurrent, homozygous EMC10 frameshift variant is associated with a syndrome of developmental delay with variable seizures and dysmorphic features.
Private payer coverage policies for ApoE-e4 genetic testing. Read more about Private payer coverage policies for ApoE-e4 genetic testing.
Evidence in the UK Biobank for the underdiagnosis of erythropoietic protoporphyria. Read more about Evidence in the UK Biobank for the underdiagnosis of erythropoietic protoporphyria.
Automated syndrome diagnosis by three-dimensional facial imaging. Read more about Automated syndrome diagnosis by three-dimensional facial imaging.
Points to consider for reporting of germline variation in patients undergoing tumor testing: a statement of the American College of Medical Genetics and Genomics (ACMG). Read more about Points to consider for reporting of germline variation in patients undergoing tumor testing: a statement of the American College of Medical Genetics and Genomics (ACMG).
Systematic evidence-based review: outcomes from exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability. Read more about Systematic evidence-based review: outcomes from exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability.
Regulation of human cerebral cortical development by EXOC7 and EXOC8, components of the exocyst complex, and roles in neural progenitor cell proliferation and survival. Read more about Regulation of human cerebral cortical development by EXOC7 and EXOC8, components of the exocyst complex, and roles in neural progenitor cell proliferation and survival.
Integrating stakeholder feedback in translational genomics research: an ethnographic analysis of a study protocol's evolution. Read more about Integrating stakeholder feedback in translational genomics research: an ethnographic analysis of a study protocol's evolution.
Evaluating the Patient-Reported Outcomes Measurement Information System scales in acute intermittent porphyria. Read more about Evaluating the Patient-Reported Outcomes Measurement Information System scales in acute intermittent porphyria.
Perspectives of US private payers on insurance coverage for pediatric and prenatal exome sequencing: Results of a study from the Program in Prenatal and Pediatric Genomic Sequencing (P3EGS). Read more about Perspectives of US private payers on insurance coverage for pediatric and prenatal exome sequencing: Results of a study from the Program in Prenatal and Pediatric Genomic Sequencing (P3EGS).
