PubRank

E Goldmuntz

Author PubWeight™ 25.67‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Features of Alagille syndrome in 92 patients: frequency and relation to prognosis. Hepatology 1999 2.91
2 The Philadelphia story: the 22q11.2 deletion: report on 250 patients. Genet Couns 1999 2.58
3 GATA4 sequence variants in patients with congenital heart disease. J Med Genet 2007 2.08
4 Association of chromosome 22q11 deletion with isolated anomalies of aortic arch laterality and branching. J Am Coll Cardiol 2001 1.75
5 Cognitive and behavior profile of preschool children with chromosome 22q11.2 deletion. Am J Med Genet 1999 1.71
6 Serum alkaline phosphatase reflects post-Fontan hemodynamics in children. Pediatr Cardiol 2008 1.56
7 Rare structural variation of synapse and neurotransmission genes in autism. Mol Psychiatry 2011 1.36
8 The 22q11.2 deletion: screening, diagnostic workup, and outcome of results; report on 181 patients. Genet Test 1997 1.33
9 Mutation analysis of TBX1 in non-deleted patients with features of DGS/VCFS or isolated cardiovascular defects. J Med Genet 2001 1.24
10 Loss-of-function mutations in growth differentiation factor-1 (GDF1) are associated with congenital heart defects in humans. Am J Hum Genet 2007 1.06
11 Regional localization of over 300 loci on human chromosome 22 using a somatic cell hybrid mapping panel. Genomics 1996 1.05
12 Patterns of right aortic arch and mirror-image branching of the brachiocephalic vessels without associated anomalies. Pediatr Cardiol 2001 1.05
13 Jagged1 mutations in patients ascertained with isolated congenital heart defects. Am J Med Genet 1999 1.03
14 A simplified, competitive RT-PCR method for measuring rat IFN-gamma mRNA expression. J Immunol Methods 1996 1.00
15 Coexpression of phosphotyrosine-containing proteins, platelet-derived growth factor-B, and fibroblast growth factor-1 in situ in synovial tissues of patients with rheumatoid arthritis and Lewis rats with adjuvant or streptococcal cell wall arthritis. J Clin Invest 1993 1.00
16 Chromosome 22q11 deletion in patients with truncus arteriosus. Pediatr Cardiol 2003 0.98
17 Comparison of patterns of pulmonary venous blood flow in the functional single ventricle heart after operative aortopulmonary shunt versus superior cavopulmonary shunt. Am J Cardiol 1997 0.97
18 Low expression VEGF haplotype increases the risk for tetralogy of Fallot: a family based association study. J Med Genet 2005 0.92
19 Cardiovascular anomalies in patients diagnosed with a chromosome 22q11 deletion beyond 6 months of age. Pediatrics 2001 0.89
20 DiGeorge anomaly with renal agenesis in infants of mothers with diabetes. Am J Med Genet 1993 0.88
21 Detection of a 22q11.2 deletion in cardiac patients suggests a risk for velopharyngeal incompetence. Pediatrics 1997 0.84
22 Molecular and phenotypic analysis of the chromosome 22 microdeletion syndromes. Prog Clin Biol Res 1993 0.75