PubRank

Bruce D Gelb

Author PubWeight™ 125.09‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia. Nat Genet 2003 5.16
2 De novo mutations in histone-modifying genes in congenital heart disease. Nature 2013 5.15
3 Atenolol versus losartan in children and young adults with Marfan's syndrome. N Engl J Med 2014 5.11
4 Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome. Nat Genet 2006 4.68
5 Patient-specific induced pluripotent stem-cell-derived models of LEOPARD syndrome. Nature 2010 4.38
6 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 Pediatrics. Circulation 2007 4.34
7 Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy. Nat Genet 2007 3.47
8 Somatically acquired JAK1 mutations in adult acute lymphoblastic leukemia. J Exp Med 2008 3.24
9 Noonan syndrome and related disorders: genetics and pathogenesis. Annu Rev Genomics Hum Genet 2005 3.02
10 PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity. Am J Hum Genet 2002 2.81
11 Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease. Am J Hum Genet 2005 2.75
12 Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair. Nat Genet 2009 2.57
13 Noonan syndrome: clinical features, diagnosis, and management guidelines. Pediatrics 2010 2.56
14 Genetic evidence for lineage-related and differentiation stage-related contribution of somatic PTPN11 mutations to leukemogenesis in childhood acute leukemia. Blood 2004 2.19
15 The phosphatase SHP2 regulates the spacing effect for long-term memory induction. Cell 2009 2.19
16 Noonan syndrome. Lancet 2013 2.13
17 Mutation of TBCE causes hypoparathyroidism-retardation-dysmorphism and autosomal recessive Kenny-Caffey syndrome. Nat Genet 2002 1.96
18 Genetics of congenital heart disease: the glass half empty. Circ Res 2013 1.90
19 Noonan syndrome and clinically related disorders. Best Pract Res Clin Endocrinol Metab 2011 1.82
20 The mutational spectrum of PTPN11 in juvenile myelomonocytic leukemia and Noonan syndrome/myeloproliferative disease. Blood 2005 1.80
21 Noonan syndrome-associated SHP2/PTPN11 mutants cause EGF-dependent prolonged GAB1 binding and sustained ERK2/MAPK1 activation. Hum Mutat 2004 1.80
22 Germline missense mutations affecting KRAS Isoform B are associated with a severe Noonan syndrome phenotype. Am J Hum Genet 2006 1.78
23 A restricted spectrum of NRAS mutations causes Noonan syndrome. Nat Genet 2009 1.71
24 Deficiency and inhibition of cathepsin K reduce body weight gain and increase glucose metabolism in mice. Arterioscler Thromb Vasc Biol 2008 1.64
25 Diversity, parental germline origin, and phenotypic spectrum of de novo HRAS missense changes in Costello syndrome. Hum Mutat 2007 1.56
26 Cyclosporine attenuates cardiomyocyte hypertrophy induced by RAF1 mutants in Noonan and LEOPARD syndromes. J Mol Cell Cardiol 2011 1.55
27 Regulation of embryonic and induced pluripotency by aurora kinase-p53 signaling. Cell Stem Cell 2012 1.54
28 Disorders of dysregulated signal traffic through the RAS-MAPK pathway: phenotypic spectrum and molecular mechanisms. Ann N Y Acad Sci 2010 1.54
29 Heterozygous germline mutations in the CBL tumor-suppressor gene cause a Noonan syndrome-like phenotype. Am J Hum Genet 2010 1.53
30 Decreased bone turnover and deterioration of bone structure in two cases of pycnodysostosis. J Clin Endocrinol Metab 2004 1.53
31 Parents and clinicians underestimate distress and depression in children who had a transplant. Pediatr Transplant 2005 1.50
32 Phosphatase-defective LEOPARD syndrome mutations in PTPN11 gene have gain-of-function effects during Drosophila development. Hum Mol Genet 2008 1.50
33 Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum. Hum Mutat 2009 1.49
34 Collagenase activity of cathepsin K depends on complex formation with chondroitin sulfate. J Biol Chem 2002 1.40
35 Marfan's syndrome and related disorders--more tightly connected than we thought. N Engl J Med 2006 1.38
36 Proceedings from the 2009 genetic syndromes of the Ras/MAPK pathway: From bedside to bench and back. Am J Med Genet A 2010 1.36
37 Mice lacking cathepsin K maintain bone remodeling but develop bone fragility despite high bone mass. J Bone Miner Res 2006 1.28
38 Germ-line and somatic PTPN11 mutations in human disease. Eur J Med Genet 2005 1.27
39 Neurofibromatosis-Noonan syndrome: molecular evidence of the concurrence of both disorders in a patient. Am J Med Genet A 2005 1.19
40 Targeted disruption of Slc19a2, the gene encoding the high-affinity thiamin transporter Thtr-1, causes diabetes mellitus, sensorineural deafness and megaloblastosis in mice. Hum Mol Genet 2002 1.18
41 Characteristics of children and young adults with Marfan syndrome and aortic root dilation in a randomized trial comparing atenolol and losartan therapy. Am Heart J 2013 1.14
42 SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlations. Hum Mutat 2011 1.12
43 Effect of copy number variants on outcomes for infants with single ventricle heart defects. Circ Cardiovasc Genet 2013 1.11
44 Transcription factor Ap-2alpha is necessary for development of embryonic melanophores, autonomic neurons and pharyngeal skeleton in zebrafish. Dev Biol 2004 1.11
45 Comparison of parent and child reports of emotional trauma symptoms in pediatric outpatient settings. Pediatrics 2005 1.11
46 Cathepsin K deficiency reduces elastase perfusion-induced abdominal aortic aneurysms in mice. Arterioscler Thromb Vasc Biol 2011 1.11
47 Transgenic Drosophila models of Noonan syndrome causing PTPN11 gain-of-function mutations. Hum Mol Genet 2006 1.07
48 Expression of Tfap2d, the gene encoding the transcription factor Ap-2 delta, during mouse embryogenesis. Gene Expr Patterns 2003 1.07
49 Ash2l interacts with Tbx1 and is required during early embryogenesis. Exp Biol Med (Maywood) 2010 1.06
50 Jagged1 (JAG1) mutations in patients with tetralogy of Fallot or pulmonic stenosis. Hum Mutat 2010 1.05
51 Transcription factor Ap2delta associates with Ash2l and ALR, a trithorax family histone methyltransferase, to activate Hoxc8 transcription. Proc Natl Acad Sci U S A 2008 1.05
52 Diverse driving forces underlie the invariant occurrence of the T42A, E139D, I282V and T468M SHP2 amino acid substitutions causing Noonan and LEOPARD syndromes. Hum Mol Genet 2008 1.04
53 A restricted spectrum of mutations in the SMAD4 tumor-suppressor gene underlies Myhre syndrome. Am J Hum Genet 2012 1.04
54 Protein tyrosine phosphatase PTPN14 is a regulator of lymphatic function and choanal development in humans. Am J Hum Genet 2010 0.99
55 The genetics of congenital heart disease: a review of recent developments. Curr Opin Cardiol 2007 0.98
56 Age-dependent germline mosaicism of the most common noonan syndrome mutation shows the signature of germline selection. Am J Hum Genet 2013 0.97
57 Role of copy number variants in structural birth defects. Pediatrics 2012 0.96
58 Basic concepts and potential applications of genetics and genomics for cardiovascular and stroke clinicians: a scientific statement from the American Heart Association. Circ Cardiovasc Genet 2015 0.93
59 Paternal germline origin and sex-ratio distortion in transmission of PTPN11 mutations in Noonan syndrome. Am J Hum Genet 2004 0.92
60 Economic and safety implications of introducing fast tracking in congenital heart surgery. Circ Cardiovasc Qual Outcomes 2013 0.92
61 Induced pluripotent stem cell-derived cardiomyocytes as models for genetic cardiovascular disorders. Curr Opin Cardiol 2011 0.92
62 Novel functional interaction between Na+/H+ exchanger 1 and tyrosine phosphatase SHP-2. Am J Physiol Regul Integr Comp Physiol 2007 0.89
63 Signaling to cardiac hypertrophy: insights from human and mouse RASopathies. Mol Med 2012 0.88
64 Male infertility due to germ cell apoptosis in mice lacking the thiamin carrier, Tht1. A new insight into the critical role of thiamin in spermatogenesis. Dev Biol 2004 0.88
65 Evaluation of pulmonary artery banding in the setting of ventricular septal defects and severely elevated pulmonary vascular resistance. Congenit Heart Dis 2006 0.88
66 Concise review: drug discovery in the age of the induced pluripotent stem cell. Stem Cells Transl Med 2014 0.86
67 MiST: a new approach to variant detection in deep sequencing datasets. Nucleic Acids Res 2013 0.84
68 A PTPN11 allele encoding a catalytically impaired SHP2 protein in a patient with a Noonan syndrome phenotype. Am J Med Genet A 2014 0.82
69 Ablation of cathepsin k activity in the young mouse causes hypermineralization of long bone and growth plates. Calcif Tissue Int 2009 0.82
70 The Good SHP2 Association: a porthole into the genetics of congenital heart disease. Circ Cardiovasc Genet 2012 0.81
71 Fgfr3 is a transcriptional target of Ap2delta and Ash2l-containing histone methyltransferase complexes. PLoS One 2009 0.81
72 Neonatal Marfan syndrome : in utero presentation with aortic and pulmonary artery dilatation and successful repair of an acute flail mitral valve leaflet in infancy. Pediatr Cardiol 2006 0.80
73 Rapidly progressive hypertrophic cardiomyopathy in an infant with Noonan syndrome with multiple lentigines: palliative treatment with a rapamycin analog. Am J Med Genet A 2015 0.78
74 Thiamine pyrophosphate: an essential cofactor in the mammalian metabolism of 3-methyl-branched fatty acids--implications for thiamine deficiencies? Adv Exp Med Biol 2003 0.78
75 Absence of PTPN11 mutations in 28 cases of cardiofaciocutaneous (CFC) syndrome. Hum Genet 2002 0.78
76 A trial of vitamin A therapy to facilitate ductal closure in premature infants. J Pediatr 2003 0.78
77 Counteracting effects operating on Src homology 2 domain-containing protein-tyrosine phosphatase 2 (SHP2) function drive selection of the recurrent Y62D and Y63C substitutions in Noonan syndrome. J Biol Chem 2012 0.77
78 Genetics of congenital heart disease. Curr Opin Cardiol 2016 0.77
79 Char syndrome, a familial form of patent ductus arteriosus, with a new finding: hypoplasia [corrected] of the 3rd finger. Anadolu Kardiyol Derg 2012 0.75
80 Multiple thoracic aortic aneurysms after mediastinitis in an infant after repair of coarctation of the aorta. J Thorac Cardiovasc Surg 2008 0.75