Timing of developmental milestones varies greatly in children with autism
1. Median delays in achieving key developmental milestones varied between 0.7 and 19.7 months for children with autism compared to...
Genetics
Reports of high-impact genetics studies by medical professionals
Combined genetic testing of cardiomyopathies and arrhythmias increases diagnostic yield to inform patient management
1. Comprehensive genetic testing for cardiomyopathy and arrhythmia diagnoses improved the ability to detect underlying conditions which may have otherwise...
Rapid genotyping for variant associated with aminoglycoside-induced ototoxicity is feasible in acute neonatal setting
1. In a prospective implementation trial, more than 400 infants were tested for the MT-RNR1 m.1555A>G variant using a point-of-care...
Psychological experiment suggests genetic testing may influence neonatologists’ clinical decision-making
1. A randomized, split-block psychological experiment utilizing clinical vignettes provides evidence that genetic studies influence neonatologists’ decision-making for critically ill...
![Maternal cell-free DNA sequencing superior to standard aneuploidy screening [CARE Study]](https://www.2minutemedicine.com/wp-content/uploads/2014/02/47-karyotype-350x250.jpg)
BRCA1/2 pathogenic variants are associated with an increased risk of male breast, pancreatic, and stomach cancer.
1. Pathogenic variants of BRCA1 or BRCA2 are associated with an increased risk of pancreatic and stomach cancer in both...
Maintenance olaparib, compared with placebo, reduces the risk of disease progression in patients with advanced BRCA mutation ovarian cancer
1. Median progression-free survival was 56.0 months in the olaparib group and was 13.8 months in the placebo group. 2....
Detection of pathogenic genetic variants in early-onset atrial fibrillation
1. Genetic testing in patients with early-onset atrial fibrillation, via major commercial arrhythmia and cardiomyopathy gene panels, were able to...
22q11.22 status is a predictor of the degree of negative outcomes of IKZF1 alteration in pediatric B-cell acute lymphoblastic leukemia
1. 22q11.22 deletion alone was not associated with poor outcomes, but in combination with IKZF1 alteration predicted poor outcomes in...
Clinicopathological heterogeneity in triple-negative breast cancers associated with variable prognosis and therapeutic outcomes
1. Heterogeneity in histological profile linked to improved overall survival, chemotherapy response, and clinical course despite triple-negative receptor status in...
Increased mortality among parents of children with major congenital anomalies
1. Mothers and fathers of children with major congenital abnormalities were found to experience an overall increased risk of mortality...
