Last Posted: Jul 08, 2019
- A familys medical mystery sheds light on the surprising ways disease-causing genes can be inherited
A Joseph, Stat News, July 8, 2019
- Genetic counselling and testing in congenital heart defects and hereditary thoracic aortic disease: Complex but essential.
Breckpot Jeroen et al. European journal of preventive cardiology 2019 Jun 2047487319860296
- Genetic counselling and testing in adults with congenital heart disease: A consensus document of the ESC Working Group of Grown-Up Congenital Heart Disease, the ESC Working Group on Aorta and Peripheral Vascular Disease and the European Society of Human Genetics.
De Backer Julie et al. European journal of preventive cardiology 2019 Jun 2047487319854552
- Testing criteria for 22q11.2 deletion syndrome: preliminary results of a low cost strategy for public health.
Sgardioli Ilária Cristina et al. Orphanet journal of rare diseases 2019 Jun 14(1) 123
- Long-Term Outcomes in Patients With Turner Syndrome: A 68-Year Follow-Up.
Fuchs Margaret M et al. Journal of the American Heart Association 2019 Jun 8(11) e011501
- Artificial Intelligence-Assisted Auscultation of Heart Murmurs: Validation by Virtual Clinical Trial.
Thompson W Reid et al. Pediatric cardiology 2019 Mar 40(3) 623-629
- Chromosomal microarray analysis in fetuses with an isolated congenital heart defect: a retrospective, nationwide, multicenter study in France.
Hureaux M et al. Prenatal diagnosis 2019 Mar
- Impact of predictive medicine on therapeutic decision making: a randomized controlled trial in congenital heart disease
H Naci et al, NPJ Digital Medicine, March 2019
- Lessons from exome sequencing in prenatally diagnosed heart defects: a basis for prenatal testing.
Westphal Dominik S et al. Clinical genetics 2019 Mar
- Big data analytics in adult congenital heart disease: why coding matters.
Asselbergs Folkert W et al. European heart journal 2019 Mar