PubRank

M E Pierpont

Author PubWeight™ 60.15‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1. Nat Genet 1997 6.66
2 Mutation of the PAX2 gene in a family with optic nerve colobomas, renal anomalies and vesicoureteral reflux. Nat Genet 1995 3.03
3 Different TBX5 interactions in heart and limb defined by Holt-Oram syndrome mutations. Proc Natl Acad Sci U S A 1999 2.70
4 Cerebello-oculo-renal syndromes including Arima, Senior-Löken and COACH syndromes: more than just variants of Joubert syndrome. Am J Med Genet 1999 2.24
5 The mutational spectrum of the sonic hedgehog gene in holoprosencephaly: SHH mutations cause a significant proportion of autosomal dominant holoprosencephaly. Hum Mol Genet 1999 2.00
6 Mutations in transcriptional regulator ATRX establish the functional significance of a PHD-like domain. Nat Genet 1997 1.88
7 Linkage analysis of autosomal dominant atrioventricular canal defects: exclusion of chromosome 21. Hum Genet 1994 1.72
8 Clinical phenotype associated with terminal 2q37 deletion. Clin Genet 1995 1.63
9 Mutations in TFAP2B cause Char syndrome, a familial form of patent ductus arteriosus. Nat Genet 2000 1.62
10 Variation in severity of cardiac disease in Holt-Oram syndrome. Am J Med Genet 1996 1.62
11 Jarcho-Levin syndrome: four new cases and classification of subtypes. Am J Med Genet 1991 1.55
12 Heterotaxia syndrome and autosomal dominant inheritance. Am J Med Genet 1995 1.55
13 Occurrence of cardiac malformations in relatives of children with transposition of the great arteries. Am J Med Genet 1996 1.52
14 Bone-marrow transplantation in the Maroteaux-Lamy syndrome (mucopolysaccharidosis type VI). Biochemical and clinical status 24 months after transplantation. N Engl J Med 1984 1.43
15 Novel TFAP2B mutations that cause Char syndrome provide a genotype-phenotype correlation. Am J Hum Genet 2001 1.20
16 Autosomal dominant optic nerve colobomas, vesicoureteral reflux, and renal anomalies. Am J Med Genet 1995 1.13
17 A summary of 20 CACNA1F mutations identified in 36 families with incomplete X-linked congenital stationary night blindness, and characterization of splice variants. Hum Genet 2001 1.11
18 Identification of a complex congenital heart defect susceptibility locus by using DNA pooling and shared segment analysis. Hum Mol Genet 1997 1.11
19 Single central incisor in familial holoprosencephaly. J Pediatr 1984 1.09
20 Rocking waterbeds and auditory stimuli to enhance growth of preterm infants. Preliminary report. J Pediatr 1976 1.08
21 Two-dimensional echocardiography in detection of endocardial cushion defect in families. Am J Cardiol 1985 1.02
22 Genotype differences in cognitive functioning in Noonan syndrome. Genes Brain Behav 2008 0.96
23 Congenital cardiac, pulmonary, and vascular malformations in oculoauriculovertebral dysplasia. Pediatr Cardiol 1982 0.94
24 Mitochondrial function in children with idiopathic dilated cardiomyopathy. J Inherit Metab Dis 1996 0.89
25 Char syndrome, an inherited disorder with patent ductus arteriosus, maps to chromosome 6p12-p21. Circulation 1999 0.88
26 Specific mitochondrial DNA deletions in idiopathic dilated cardiomyopathy. Cardiovasc Res 1996 0.87
27 Pseudodeficiency of arylsulfatase A: a counseling dilemma. Clin Genet 1987 0.86
28 Fibrinolysis by tissue plasminogen activator in a child with pulmonary embolism. J Pediatr 1990 0.86
29 Bilateral periventricular nodular heterotopia with mental retardation and syndactyly in boys: a new X-linked mental retardation syndrome. Neurology 1997 0.86
30 Interstitial deletion of 10q: clinical features and literature review. Am J Med Genet 1992 0.85
31 Familial occurrence of patent ductus arteriosus. Am J Med Genet 1995 0.85
32 Cardiac and skeletal muscle abnormalities in cardiomyopathy: comparison of patients with ventricular tachycardia or congestive heart failure. J Am Coll Cardiol 1987 0.83
33 Impaired mitochondrial function in idiopathic dilated cardiomyopathy: biochemical and molecular analysis. J Card Fail 1995 0.82
34 Metabolic aspects of myocardial disease and a role for L-carnitine in the treatment of childhood cardiomyopathy. Pediatrics 2000 0.81
35 Retinoblastoma and Hirschsprung disease in a patient with interstitial deletion of chromosome 13. Am J Med Genet 1998 0.81
36 Acute effects of amrinone on regional myocardial and systemic blood flow distribution in the dog. Can J Physiol Pharmacol 1982 0.81
37 Heart development and the genetic aspects of cardiovascular malformations. Am J Med Genet 2000 0.81
38 A point mutation in the cytb gene of cardiac mtDNA associated with complex III deficiency in ischemic cardiomyopathy. Biochem Mol Biol Int 1996 0.80
39 The complete sequence of mtDNA genes in idiopathic dilated cardiomyopathy shows novel missense and tRNA mutations. J Card Fail 2000 0.80
40 Partial trisomy 6q and bilateral retinal detachment. Ophthalmic Paediatr Genet 1986 0.80
41 Comparison of enzymatic activity with evidence of engraftment in patients with inborn errors of metabolism receiving allogeneic marrow transplantation. Birth Defects Orig Artic Ser 1986 0.80
42 Interruption of the aortic arch with right descending aorta. A rare condition and a cause of bronchial compression. Pediatr Cardiol 1982 0.79
43 Evaluation of urinary carnitine and taurine excretion in 5 cystinuric dogs with carnitine and taurine deficiency. J Vet Intern Med 2001 0.78
44 Carnitine alterations in spontaneous and drug-induced turkey congestive cardiomyopathy. Pediatr Res 1985 0.77
45 Localization of chromosomal RNA in human G-banded metaphase chromosomes. Exp Cell Res 1977 0.77
46 Catecholamines in turkeys with alcohol-induced cardiomyopathy. J Appl Physiol (1985) 1992 0.77
47 Familial interruption of the aortic arch. Pediatr Cardiol 1993 0.76
48 Biochemical and molecular basis for mitochondrial cardiomyopathy in neonates and children. J Inherit Metab Dis 2000 0.76
49 Microcephaly with agenesis of corticospinal tracts and arthrogryposis, hypospadias, single umbilical artery, hypertelorism, and renal and adrenal hypoplasia--previously undescribed syndrome. Am J Med Genet 1997 0.75
50 Reliability of carnitine concentrations measured in single postprandial urine samples from dogs. Am J Vet Res 1996 0.75
51 The child at risk for developing heart disease. 3. Minn Med 1992 0.75
52 Exercise reduces persistent ductus arteriosus shunting in piglets. Cardiovasc Res 1987 0.75
53 A new method of urine collection in turkeys and chickens. Lab Anim Sci 1987 0.75
54 Cardiac and skeletal myopathy associated with cardiac dysrhythmias. Am J Cardiol 1984 0.75
55 Reliability of taurine concentrations measured in single urine samples obtained from dogs eight hours after eating. Am J Vet Res 1999 0.75
56 Mutation of the gene in a family with optic nerve colobomas, renal anomolies and vesicoureteral reflux. Nat Genet 1996 0.75
57 Mitochondrial dysfunction in spontaneous inbred turkey cardiomyopathy. Biochem Mol Biol Int 1996 0.75
58 Duplication 6q22-->qter: definition of the phenotype. Am J Med Genet 1998 0.75
59 Effects of dietary fat and carnitine on urine carnitine excretion in healthy dogs. Vet Ther 2001 0.75
60 Increased dietary branched-chain amino acids do not improve growth in developing rats with chronic biliary obstruction. J Nutr 1991 0.75
61 Congenital cardiac malformations in Adams-Oliver syndrome. Clin Genet 1995 0.75