De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy. Read more about De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy.
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.
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.
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).
A novel ZRS variant causes preaxial polydactyly type I by increased sonic hedgehog expression in the developing limb bud. Read more about A novel ZRS variant causes preaxial polydactyly type I by increased sonic hedgehog expression in the developing limb bud.
A high-resolution X chromosome copy-number variation map in fertile females and women with primary ovarian insufficiency. Read more about A high-resolution X chromosome copy-number variation map in fertile females and women with primary ovarian insufficiency.
