PubRank

R G Boles

Author PubWeight™ 32.28‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development. Cell 2001 11.99
2 Cyclic vomiting syndrome in adults. Neurogastroenterol Motil 2008 2.40
3 Osteoporosis-pseudoglioma syndrome, a disorder affecting skeletal strength and vision, is assigned to chromosome region 11q12-13. Am J Hum Genet 1996 1.89
4 Cyclic vomiting syndrome and mitochondrial DNA mutations. Lancet 1997 1.69
5 Detection of mitochondrial DNA mutations by temporal temperature gradient gel electrophoresis. Clin Chem 1999 1.55
6 Deletion of the entire NF1 gene detected by the FISH: four deletion patients associated with severe manifestations. Am J Med Genet 1995 1.37
7 Two common mitochondrial DNA polymorphisms are highly associated with migraine headache and cyclic vomiting syndrome. Cephalalgia 2009 1.18
8 Diltiazem enhancement of [3H]nitrendipine binding to calcium channel associated drug receptor sites in rat brain synaptosomes. Biochem Biophys Res Commun 1982 1.11
9 Specific high-affinity binding sites for [3H]Ro 5-4864 in rat brain and kidney. J Pharmacol Exp Ther 1983 1.05
10 Reflex sympathetic dystrophy: complex regional pain syndrome type I in children with mitochondrial disease and maternal inheritance. Arch Dis Child 2008 0.93
11 Somatic mosaicism for deletion of the entire NF1 gene identified by FISH. Hum Genet 1997 0.92
12 Macular pattern retinal dystrophy, adult-onset diabetes, and deafness: a family study of A3243G mitochondrial heteroplasmy. Am J Ophthalmol 1997 0.91
13 Temperature-dependent modulation of [3H]nitrendipine binding by the calcium channel antagonists verapamil and diltiazem in rat brain synaptosomes. J Pharmacol Exp Ther 1984 0.85
14 Mitochondrial DNA depletion, near-fatal metabolic acidosis, and liver failure in an HIV-infected child treated with combination antiretroviral therapy. J Pediatr 2001 0.84
15 Infantile mitochondrial DNA depletion syndrome associated with methylmalonic aciduria and 3-methylcrotonyl-CoA and propionyl-CoA carboxylase deficiencies in two unrelated patients: a new phenotype of mtDNA depletion syndrome. J Inherit Metab Dis 2003 0.81
16 Brain phenylalanine concentration in the management of adults with phenylketonuria. J Inherit Metab Dis 2000 0.81
17 Pseudomonas otitis media and bacteremia following a water birth. Pediatrics 1997 0.80
18 Screening for mitochondrial DNA heteroplasmy in children at risk for mitochondrial disease. Mitochondrion 2001 0.79
19 Sex ratios and mitochondrial genetics in migraine. Cephalalgia 2008 0.77
20 Cerebral aqueductal stenosis as a presentation of deletion 6q25-qter. Clin Genet 1998 0.76
21 Sudden death beyond SIDS. Pediatr Pathol Lab Med 1997 0.75
22 Allosteric modulation by diltiazem and verapamil of [3H]nitrendipine binding to calcium channel sites in rat brain. Proc West Pharmacol Soc 1983 0.75
23 Cleft palate, ptosis, digital anomalies and mental retardation: a new syndrome or a distal arthrogryposis variant? Clin Dysmorphol 1999 0.75
24 Rapid detection of FGFR mutations in syndromic craniosynostosis by temporal temperature gradient gel electrophoresis. Clin Chem 1999 0.75