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American Journal of Human Genetics|July 13, 2004
Paternal germline origin and sex-ratio distortion in transmission of PTPN11 mutations in Noonan syndromeMarco Tartaglia, Viviana Cordeddu, Hong Chang, et al.
Human Molecular Genetics|November 5, 1999
CBFA1 mutation analysis and functional correlation with phenotypic variability in cleidocranial dysplasiaG Zhou, Y Chen, L Zhou, et al.
Plos One|July 11, 2014
Identification and purification of human induced pluripotent stem cell-derived atrial-like cardiomyocytes based on sarcolipin expressionRebecca Josowitz, Jia Lu, Christine Falce, et al.
Pediatrics|September 30, 2010
Noonan syndrome: clinical features, diagnosis, and management guidelinesAlicia A Romano, Judith E Allanson, Jovanna Dahlgren, et al.
Human Molecular Genetics|January 10, 2006
Transgenic Drosophila models of Noonan syndrome causing PTPN11 gain-of-function mutationsKimihiko Oishi, Konstantin Gaengel, Srinivasan Krishnamoorthy, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 2, 2018
ClinGen's RASopathy Expert Panel consensus methods for variant interpretationBruce D Gelb, Hélène Cavé, Mitchell W Dillon, et al.
Circulation|May 24, 2007
Genetic basis for congenital heart defects: current knowledge: a scientific statement from the American Heart Association Congenital Cardiac Defects Committee, Council on Cardiovascular Disease in the Young: endorsed by the American Academy of PediatricsMary Ella Pierpont, Craig T Basson, D Woodrow Benson, et al.
Stem Cell Reports|August 30, 2016
Autonomous and Non-autonomous Defects Underlie Hypertrophic Cardiomyopathy in BRAF-Mutant hiPSC-Derived CardiomyocytesRebecca Josowitz, Sonia Mulero-Navarro, Nelson A Rodriguez, et al.
BMC Medical Genomics|July 27, 2025
Enrichment of tandem repeat element variants near CHD genes identified by short- and long-read genome sequencingAbhilash Suresh, Sarah U Morton, Daniel Quiat, et al.
Journal of the American Heart Association|September 12, 2024
Trisomy 21 and Congenital Heart Disease: Impact on Health and Functional Outcomes From Birth Through Adolescence: A Scientific Statement From the American Heart AssociationJennifer K Peterson, Shanelle Clarke, Bruce D Gelb, et al.
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