Hans-Heiner Kramer

TL;DR: Exome sequenced 1,891 probands and identified three genome-wide significant S-CHD disorders caused by DNMs in CHD4, CDK13 and PRKD1, finding evidence for distinct genetic architectures underlying the low sibling recurrence risk in S- CHD and NS-CHd.

TL;DR: This study provides percentile curves for cross-sectional areas, distensibility and pulse wave velocity of the thoracic aorta in children and young adolescents between their 3rd and 29th year of life and may serve as a reference for the detection of pathological changes of the aorte in cardiovascular disease.

TL;DR: Mutation of PRDM16 causes the cardiomyopathy in 1p36 deletion syndrome as well as a proportion of nonsyndromic LVNC and DCM.

TL;DR: The Norwood operation can now be performed with low mortality and patients with mitral stenosis/aortic atresia still constitute the most challenging subgroup, despite recent advances in perioperative care.

TL;DR: Exome sequencing was performed in 13 parent-offspring trios and 112 unrelated individuals with nonsyndromic AVSDs and five rare missense variants were identified in the highly conserved gene NR2F2, showing that all six coding sequence variants observed in individuals significantly alter the activity of NR1F2 on target promoters.