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American Journal of Medical Genetics. Part A|September 9, 2016
Autosomal and X chromosome structural variants are associated with congenital heart defects in Turner syndrome: The NHLBI GenTAC registrySiddharth K Prakash, Carolyn A Bondy, Cheryl L Maslen, et al.
European Journal of Human Genetics : EJHG|January 21, 2011
ALK2 mutation in a patient with Down's syndrome and a congenital heart defectIrene C Joziasse, Kelly A Smith, Sonja Chocron, et al.
G3 (Bethesda, Md.)|November 17, 2017
Analysis of Copy Number Variants on Chromosome 21 in Down Syndrome-Associated Congenital Heart DefectsBenjamin L Rambo-Martin, Jennifer G Mulle, David J Cutler, et al.
The Journal of Heart Valve Disease|October 10, 2014
Valve-sparing aortic root replacement in patients with Marfan syndrome enrolled in the National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular ConditionsHoward K Song, Liliana R Preiss, Cheryl L Maslen, et al.
The Annals of Thoracic Surgery|October 1, 2019
Open Thoracoabdominal Aortic Repair in Patients With Heritable Aortic Disease in the GenTAC RegistryWilliam C Frankel, Howard K Song, Rita K Milewski, et al.
Clinical Genetics|July 26, 2022
Identification of novel rare copy number variants associated with sporadic tetralogy of Fallot and clinical implicationsGuo-Wei He, Cheryl L Maslen, Huan-Xin Chen, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 24, 2014
Contribution of copy-number variation to Down syndrome-associated atrioventricular septal defectsDhanya Ramachandran, Jennifer G Mulle, Adam E Locke, et al.
G3 (Bethesda, Md.)|July 22, 2015
Genome-Wide Association Study of Down Syndrome-Associated Atrioventricular Septal DefectsDhanya Ramachandran, Zhen Zeng, Adam E Locke, et al.
The Journal of Thoracic and Cardiovascular Surgery|November 23, 2011
Long-term implications of emergency versus elective proximal aortic surgery in patients with Marfan syndrome in the Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions Consortium RegistryHoward K Song, Mark Kindem, Joseph E Bavaria, et al.
Congenital Heart Disease|August 15, 2017
Bicuspid and unicuspid aortic valves: Different phenotypes of the same disease? Insight from the GenTAC RegistryJoseph M Krepp, Mary J Roman, Richard B Devereux, et al.
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