PubRank

P J Benke

Author PubWeight™ 33.41‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Retinoic acid embryopathy. N Engl J Med 1985 5.85
2 Congenital hypothalamic hamartoblastoma, hypopituitarism, imperforate anus and postaxial polydactyly--a new syndrome? Part I: clinical, causal, and pathogenetic considerations. Am J Med Genet 1980 2.02
3 Coordinate induction of energy gene expression in tissues of mitochondrial disease patients. J Biol Chem 1999 2.02
4 NaV1.7 gain-of-function mutations as a continuum: A1632E displays physiological changes associated with erythromelalgia and paroxysmal extreme pain disorder mutations and produces symptoms of both disorders. J Neurosci 2008 1.70
5 The cerebrohepatorenal (Zellweger) syndrome. Increased levels and impaired degradation of very-long-chain fatty acids and their use in prenatal diagnosis. N Engl J Med 1984 1.56
6 Manifestations and treatment of Schimke immuno-osseous dysplasia: 14 new cases and a review of the literature. Eur J Pediatr 2000 1.48
7 A cerebellar ataxia locus identified by DNA pooling to search for linkage disequilibrium in an isolated population from the Cayman Islands. Hum Mol Genet 1996 1.27
8 The isotretinoin teratogen syndrome. JAMA 1984 1.22
9 OA1 mutations and deletions in X-linked ocular albinism. Am J Hum Genet 1998 1.15
10 Purine dysfunction in cells from patients with adenosine deaminase deficiency. Pediatr Res 1976 1.06
11 A sodium transport inhibitory factor in the saliva of patients with cystic fibrosis of the pancreas. Pediatr Res 1967 1.00
12 Azaguanine-resistance as a manifestation of a new form of metabolic overproduction of uric acid. Am J Med 1972 0.89
13 Caution: telomere crossing. Am J Med Genet 1999 0.89
14 Biochemical evidence for a distinct type of primary gout. Nature 1967 0.89
15 Characterization of an analphoid supernumerary marker chromosome derived from 15q25-->qter using high-resolution CGH and multiplex FISH analyses. Clin Genet 2005 0.88
16 New form of adrenoleukodystrophy. Hum Genet 1981 0.85
17 Transport of hypoxanthine in fibroblasts with normal and mutant hypoxanthine-guanine phosphoribosyltransferase. Biochem Med 1973 0.83
18 Black children deficient in galactose 1-phosphate uridyltransferase: correlation of activity and immunoreactive protein in erythrocytes and leukocytes. J Pediatr 1997 0.82
19 Hypoxanthine-guanine phosphoribosyltransferase variant associated with accelerated purine synthesis. J Clin Invest 1973 0.82
20 Characterization of a neocentric supernumerary marker chromosome originating from the Xp distal region by FISH, CENP-C staining, and array CGH. Cytogenet Genome Res 2007 0.81
21 FG syndrome update 1988: note of 5 new patients and bibliography. Am J Med Genet 1988 0.80
22 X-linked Leigh's syndrome. Hum Genet 1982 0.78
23 Recurrence of holoprosencephaly in families with a positive history. Clin Genet 1983 0.78
24 Phosphoribosylpyrophosphate synthesis in cultured human cells. Science 1977 0.77
25 Transport of labelled compounds in control and cystic-fibrosis cells in vitro. Lancet 1972 0.77
26 Uric acid metabolism in therapy of glycogen storage disease type I. Pediatr Res 1978 0.77
27 Jessica in the well: ischemia and reperfusion injury. JAMA 1988 0.75
28 Absence of constitutive heterochromatin in a partially identified supernumerary marker chromosome. J Med Genet 1981 0.75
29 Osteoporotic bone disease in the pyridoxine-deficient rat. Biochem Med 1972 0.75
30 Alteration of purine control mechanisms in patients with the Lesch-Nyhan mutation. Wis Med J 1971 0.75
31 Adenine and folic acid in the Lesch-Nyhan syndrome. Pediatr Res 1973 0.75
32 Salivary gland enlargement and functional changes during feeding of pancreatin to rats. (Possible relation to functional changes in cystic fibrosis). Pediatr Res 1969 0.75
33 Salivary gland enlargement and functional changes during feeding of pancreatin to rats (possible relationship to pathophysiology of cystic fibrosis). J Pediatr 1969 0.75
34 Properties of cultured epithelial cells from liver and amniotic fluid. Kobe J Med Sci 1983 0.75
35 XK aprosencephaly may be a new mutation or a dominant genetic defect. Am J Med Genet 1989 0.75
36 In vitro effects of magnesium ions on mutant cells from patients with the Lesch-Nyhan syndrome. N Engl J Med 1973 0.75
37 Segregation of lymphocyte low molecular weight DNA and antinuclear antibodies in a family with systemic lupus erythematosus in first cousins. Hum Genet 1991 0.75
38 Human lymphocyte response to D-valine media. Biochim Biophys Acta 1976 0.75
39 Screening newborn infants for disease. Perspect Biol Med 1975 0.75
40 Epithelial cell cultures from amniotic fluid for prenatal diagnosis. Birth Defects Orig Artic Ser 1980 0.75
41 Excessive purine synthesis and neurologic dysfunction in children. Arthritis Rheum 1971 0.75
42 Studies on basic charged molecules and cell membranes in cystic fibrosis. Proc Soc Exp Biol Med 1971 0.75
43 Epithelial cells and Von Gierke's disease. Pediatr Res 1977 0.75
44 Decreased carnitine uptake in cultured cells from a woman with endogenous obesity. Horm Metab Res 1983 0.75
45 Twins discordant for Down's syndrome. Clin Genet 1982 0.75
46 False positive prenatal diagnosis of cystic fibrosis by protease assay. Am J Obstet Gynecol 1983 0.75
47 Retracted Segregation of lymphocyte low-molecular-weight DNA and antinuclear-antibodies in a family with systemic lupus erythematosus in first cousins. Hum Genet 1988 0.75
48 Beta glucuronidase and cystic fibrosis. N Engl J Med 1971 0.75