Published in Front Pediatr on December 01, 2016
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Deletion of KDM6A, a histone demethylase interacting with MLL2, in three patients with Kabuki syndrome. Am J Hum Genet (2011) 2.14
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A restricted spectrum of NRAS mutations causes Noonan syndrome. Nat Genet (2009) 1.71
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Heterozygous germline mutations in the CBL tumor-suppressor gene cause a Noonan syndrome-like phenotype. Am J Hum Genet (2010) 1.53
Rare copy number variations in adults with tetralogy of Fallot implicate novel risk gene pathways. PLoS Genet (2012) 1.44
Microduplication 22q11.2: a new chromosomal syndrome. Eur J Med Genet (2009) 1.42
NOTCH1 mutations in individuals with left ventricular outflow tract malformations reduce ligand-induced signaling. Hum Mol Genet (2008) 1.37
Rare copy number variants contribute to congenital left-sided heart disease. PLoS Genet (2012) 1.35
Phenotype-specific effect of chromosome 1q21.1 rearrangements and GJA5 duplications in 2436 congenital heart disease patients and 6760 controls. Hum Mol Genet (2011) 1.35
Comprehensive genotype-phenotype analysis in 230 patients with tetralogy of Fallot. J Med Genet (2009) 1.34
Mutations in NOTCH1 cause Adams-Oliver syndrome. Am J Hum Genet (2014) 1.26
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The intrafamilial variability of the 22q11.2 microduplication encompasses a spectrum from minor cognitive deficits to severe congenital anomalies. Am J Med Genet A (2006) 1.15
New mutations in ZFPM2/FOG2 gene in tetralogy of Fallot and double outlet right ventricle. Clin Genet (2010) 1.12
Identification of de novo mutations and rare variants in hypoplastic left heart syndrome. Clin Genet (2011) 1.10
Congenital heart defects in Kabuki syndrome. Am J Med Genet (2001) 1.09
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Better surgical prognosis for patients with complete atrioventricular septal defect and Down's syndrome. Ann Thorac Surg (2004) 1.02
Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome. J Med Genet (2015) 1.01
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Genetic syndromes and congenital heart defects: how is surgical management affected? Eur J Cardiothorac Surg (2008) 0.98
Submicroscopic chromosomal copy number variations identified in children with hypoplastic left heart syndrome. Pediatr Cardiol (2012) 0.98
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Congenital heart defects in recurrent reciprocal 1q21.1 deletion and duplication syndromes: rare association with pulmonary valve stenosis. Eur J Med Genet (2012) 0.95
A variant in the carboxyl-terminus of connexin 40 alters GAP junctions and increases risk for tetralogy of Fallot. Eur J Hum Genet (2012) 0.94
Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams-Oliver Syndrome With Variable Cardiac Anomalies. Circ Cardiovasc Genet (2015) 0.94
Copy-Number Variation of the Glucose Transporter Gene SLC2A3 and Congenital Heart Defects in the 22q11.2 Deletion Syndrome. Am J Hum Genet (2015) 0.90
Impact of DEL22q11, trisomy 21, and other genetic syndromes on surgical outcome of conotruncal heart defects. J Thorac Cardiovasc Surg (2009) 0.85
Heart defects and other features of the 22q11 distal deletion syndrome. Eur J Med Genet (2012) 0.85
Left-ventricular non-compaction (LVNC): a clinical feature more often observed in terminal deletion 1p36 than previously expected. Eur J Med Genet (2008) 0.82
Ebstein anomaly: Genetic heterogeneity and association with microdeletions 1p36 and 8p23.1. Am J Med Genet A (2011) 0.81
Genotype and phenotype in patients with Noonan syndrome and a RIT1 mutation. Genet Med (2016) 0.79
Cardiovascular malformations in Adams-Oliver syndrome. Am J Med Genet A (2015) 0.78
Atrioventricular canal defect in patients with RASopathies. Eur J Hum Genet (2012) 0.77
Left ventricular non compaction with aortic valve anomalies: A recurrent feature of 22q11.2 distal deletion syndrome. Eur J Med Genet (2015) 0.76