M MacCollin

Author PubWeight™ 29.68‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Random-clone strategy for genomic restriction mapping in yeast. Proc Natl Acad Sci U S A 1986 6.44
2 Molecular study of frequency of mosaicism in neurofibromatosis 2 patients with bilateral vestibular schwannomas. J Med Genet 2003 2.12
3 Molecular analysis of the NF2 tumor-suppressor gene in schwannomatosis. Am J Hum Genet 1997 1.96
4 Type of mutation in the neurofibromatosis type 2 gene (NF2) frequently determines severity of disease. Am J Hum Genet 1996 1.70
5 Exon scanning for mutation of the NF2 gene in schwannomas. Hum Mol Genet 1994 1.62
6 Survey of somatic mutations in tuberous sclerosis complex (TSC) hamartomas suggests different genetic mechanisms for pathogenesis of TSC lesions. Am J Hum Genet 2001 1.39
7 Intramedullary and spinal canal tumors in patients with neurofibromatosis 2: MR imaging findings and correlation with genotype. Radiology 2001 1.37
8 Frequency and distribution of NF2 mutations in schwannomas. Genes Chromosomes Cancer 1996 1.34
9 Phenotypic variability associated with 14 splice-site mutations in the NF2 gene. Am J Med Genet 1998 1.00
10 The murine NF2 homologue encodes a highly conserved merlin protein with alternative forms. Hum Mol Genet 1994 1.00
11 Cytosolic compartmentalization of hepatic alanine:glyoxylate aminotransferase in patients with aberrant peroxisomal biogenesis and its effect on oxalate metabolism. J Inherit Metab Dis 1994 0.93
12 A clinical study of patients with multiple isolated neurofibromas. J Med Genet 2001 0.92
13 Merlin: the neurofibromatosis 2 tumor suppressor. Biochim Biophys Acta 1999 0.92
14 Allelic expression of the NF2 gene in neurofibromatosis 2 and schwannomatosis. Neurogenetics 1999 0.89
15 The parental origin of new mutations in neurofibromatosis 2. Neurogenetics 2000 0.88
16 Neurofibromatosis 2: loss of merlin's protective spell. Curr Opin Genet Dev 1996 0.87
17 Characterization and expression of the human A2a adenosine receptor gene. J Neurochem 1996 0.85
18 Loss of the NF2 gene and merlin occur by the tumorlet stage of schwannoma development in neurofibromatosis 2. J Neuropathol Exp Neurol 1998 0.83
19 Monocular elevator paresis in neurofibromatosis type 2. Neurology 2001 0.81
20 Genetic variation in the 3' untranslated region of the neurofibromatosis 1 gene: application to unequal allelic expression. Somat Cell Mol Genet 1998 0.79
21 The effect of changes in hearing status on speech sound level and speech breathing: a study conducted with cochlear implant users and NF-2 patients. J Acoust Soc Am 1998 0.78
22 Multiple meningiomas in brain and lung due to acquired mutation of the NF2 gene. Neurology 2004 0.76
23 Molecular genetic screening for children at risk of neurofibromatosis 2. Arch Otolaryngol Head Neck Surg 1995 0.76
24 Glioblastoma multiforme presenting as bilateral internal auditory canal tumors. J Neurol 2006 0.75
25 Schwann cell-onion bulb tumor of the trigeminal nerve: hyperplasia, dysplasia or neoplasia? Acta Neuropathol 2000 0.75
26 Dominantly inherited, early-onset parkinsonism: neuropathology of a new form. Neurology 1993 0.75