PubRank

J Maynard

Author PubWeight™ 36.25‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Mutational and functional analysis of the neurofibromatosis type 1 (NF1) gene. Hum Genet 1997 2.37
2 Comprehensive mutation analysis of TSC1 and TSC2-and phenotypic correlations in 150 families with tuberous sclerosis. Am J Hum Genet 1999 2.26
3 Correlation between fragment size at D4F104S1 and age at onset or at wheelchair use, with a possible generational effect, accounts for much phenotypic variation in 4q35-facioscapulohumeral muscular dystrophy (FSHD) Hum Mol Genet 1995 2.02
4 Prioritising waiting lists. Health Trends 1990 1.78
5 Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation type and location. Hum Mol Genet 2000 1.61
6 Gross deletions of the neurofibromatosis type 1 (NF1) gene are predominantly of maternal origin and commonly associated with a learning disability, dysmorphic features and developmental delay. Hum Genet 1998 1.29
7 Heterotopic pancreas as lead point in intussusception: new variant of vitellointestinal tract malformation. Pediatr Dev Pathol 1999 1.19
8 Improving immunization coverage through budgeted microplans and sub-national performance agreements: early experience from Cambodia. Asia Pac J Public Health 2006 1.19
9 Pathological mutations in TSC1 and TSC2 disrupt the interaction between hamartin and tuberin. Hum Mol Genet 2001 1.16
10 Analysis of mutations at the neurofibromatosis 1 (NF1) locus. Hum Mol Genet 1992 1.07
11 Molecular analysis of British facioscapulohumeral dystrophy families for 4q DNA rearrangements. Hum Mol Genet 1993 1.01
12 Mapping of angiogenic markers for targeting of vectors to tumor vascular endothelial cells. Cancer Gene Ther 2007 1.00
13 Characterization of six mutations in exon 37 of neurofibromatosis type 1 gene. Am J Med Genet 1996 0.97
14 Improved molecular diagnosis of facioscapulohumeral muscular dystrophy (FSHD): validation of the differential double digestion for FSHD. J Med Genet 1997 0.96
15 Recurrent swellings of the parotid gland, sialectasis and Mikulicz's syndrome. J R Soc Med 1979 0.94
16 Phenotypic-genotypic correlation will assist genetic counseling in 4q35-facioscapulohumeral muscular dystrophy. Muscle Nerve Suppl 1995 0.92
17 Studies of human brucellosis in Alaska. J Infect Dis 1966 0.91
18 A cytogenetic deletion, del(17)(q11.22q21.1), in a patient with sporadic neurofibromatosis type 1 (NF1) associated with dysmorphism and developmental delay. J Med Genet 1996 0.89
19 Bone resorption in chronic otitis media. Ann Otol Rhinol Laryngol 1979 0.88
20 Mutation analysis in the MECP2 gene and genetic counselling for Rett syndrome. J Med Genet 2003 0.87
21 A technique for the determination of 18O/16O and 17O/16O isotopic ratios in water from small liquid and solid samples. Anal Chem 2002 0.87
22 Inherited predisposition to colorectal adenomas caused by multiple rare alleles of MUTYH but not OGG1, NUDT1, NTH1 or NEIL 1, 2 or 3. Gut 2008 0.85
23 Characterisation of germline mutations in the neurofibromatosis type 1 (NF1) gene. J Med Genet 1995 0.84
24 Engineering conditionally replication-competent adenoviral vectors carrying the cytosine deaminase gene increases the infectivity and therapeutic effect for breast cancer gene therapy. Cancer Gene Ther 2006 0.83
25 Germinal mosaicism in facioscapulohumeral muscular dystrophy (FSHD). Muscle Nerve Suppl 1995 0.83
26 Six novel mutations in the neurofibromatosis type 1 (NF1) gene. Hum Mutat 1997 0.81
27 Integration of hepatitis B vaccination into the expanded programme on immunization in Chonburi and Chiangmai provinces, Thailand. Vaccine 1997 0.81
28 A scapular onset muscular dystrophy without facial involvement: possible allelism with facioscapulohumeral muscular dystrophy. Neuromuscul Disord 1995 0.81
29 Ultrastructural evaluation of biochemical events of bone resorption in human chronic otitis media. Am J Otol 1982 0.80
30 Third component, HBeAg/3, of hepatitis B e antigen system, identified by three different double-diffusion techniques. J Clin Microbiol 1978 0.80
31 Long-term renal risk factors in children with meningomyelocele. J Pediatr 1987 0.79
32 Tumor-specific therapeutic effect induced by an oncolytic adenoviral vector containing heat shock protein 70 and prodrug activation genes. Gene Ther 2006 0.78
33 Fascia lata graft repair of esophageal hiatal hernia. Am J Surg 1968 0.78
34 Non-A, non-B hepatitis in a nurse after percutaneous needle exposure. Lancet 1980 0.76
35 De novo facioscapulohumeral muscular dystrophy defined by DNA probe p13E-11 (D4F104S1). Arch Dis Child 1994 0.76
36 Organizational aspects in an anatomical pathology quality assurance programme. Malays J Pathol 1987 0.75
37 An improved technique for in situ esophageal myotomy and proximal pouch mobilization in patients with esophageal atresia. J Pediatr Surg 1989 0.75
38 Cashing in on hospital land banks. Hosp Trustee 1988 0.75
39 Vector prime protein boost vaccination in the setting of myeloablative-induced lymphopenia suppresses growth of leukemia and solid tumors. Bone Marrow Transplant 2009 0.75
40 Management systems response to improving immunization coverage in developing countries: a case study from Cambodia. Rural Remote Health 2004 0.75
41 Mistakes with manufacturers' labelling. Med J Aust 1986 0.75
42 Visual and automated differential leukocyte counts. A comparison study of three instruments. Am J Clin Pathol 1979 0.75
43 A study of viral hepatitis B. in Egypt. J Egypt Public Health Assoc 1979 0.75
44 Phenotypic-genotypic correlation will assist genetic counseling in 4q35-facioscapulohumeral muscular dystrophy. Muscle Nerve Suppl 1995 0.75
45 Lymphangitis carcinomatosa. Med J Aust 1981 0.75
46 Time well spent? An investigation into the effects of giving materials for dental care to 5-year old children starting school. Dent Health (London) 1969 0.75
47 Germinal mosaicism in facioscapulohumeral muscular dystrophy (FSHD). Muscle Nerve Suppl 1995 0.75
48 Contemporary surgery: submandibular and parotid gland resection. Br J Hosp Med 1978 0.75
49 Towards the finer mapping of facioscapulohumeral muscular dystrophy at 4q35: construction of a laser microdissection library. Am J Med Genet 1995 0.75
50 Methods of evaluating turnover costs. Nurs Manage 1992 0.75
51 Addition of adenoviral vector targeting of chemotherapy to the MUC-1/ecdCD40L VPPP vector prime protein boost vaccine prolongs survival of mice carrying growing subcutaneous deposits of Lewis lung cancer cells. Gene Ther 2010 0.75
52 Salivary gland tumour panel. Ann R Coll Surg Engl 1982 0.75
53 Historical and pathological curiosities of parotid disease. Guys Hosp Rep 1972 0.75
54 LD-PCR coupled to long-read direct sequencing: an approach for mutation detection in genes with compact genomic structures. J Biochem Biophys Methods 2001 0.75