PubRank

B R Korf

Author PubWeight™ 40.81‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Genetic linkage of von Recklinghausen neurofibromatosis to the nerve growth factor receptor gene. Cell 1987 3.60
2 PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome. Hum Mol Genet 1999 3.22
3 American College of Medical Genetics consensus statement on factor V Leiden mutation testing. Genet Med 2001 1.70
4 Cardiovascular malformations and other cardiovascular abnormalities in neurofibromatosis 1. Am J Med Genet 2000 1.70
5 Stage III neuroblastoma over 1 year of age at diagnosis: improved survival with intensive multimodality therapy including multiple alkylating agents. J Clin Oncol 1993 1.51
6 NF1 plexiform neurofibroma growth rate by volumetric MRI: relationship to age and body weight. Neurology 2007 1.47
7 Descriptive analysis of tibial pseudarthrosis in patients with neurofibromatosis 1. Am J Med Genet 1999 1.40
8 Deletion of the entire NF1 gene detected by the FISH: four deletion patients associated with severe manifestations. Am J Med Genet 1995 1.37
9 Distal 8p deletion (8)(p23.1): an easily missed chromosomal abnormality that may be associated with congenital heart defect and mental retardation. Am J Med Genet 1996 1.36
10 Connexin 26 studies in patients with sensorineural hearing loss. Arch Otolaryngol Head Neck Surg 2001 1.16
11 Genetic heterogeneity of Saethre-Chotzen syndrome, due to TWIST and FGFR mutations. Am J Hum Genet 1998 1.16
12 Optimum pH for nuclear sex identification using quinacrine. Clin Genet 1975 1.11
13 NF1 microdeletion syndrome: refined FISH characterization of sporadic and familial deletions with locus-specific probes. Am J Hum Genet 2000 1.09
14 CHARGE association in a child with de novo inverted duplication (14)(q22-->q24.3). Am J Med Genet 1995 1.02
15 Deletion of the entire NF1 gene causing distinct manifestations in a family. Am J Med Genet 1997 1.00
16 Somatic mosaicism for deletion of the entire NF1 gene identified by FISH. Hum Genet 1997 0.92
17 Characterization of N-myc amplification in a human neuroblastoma cell line by clones isolated following the phenol emulsion reassociation technique and by hexagonal field gel electrophoresis. Mamm Genome 1992 0.91
18 Discordant phenotype in monozygotic twins with Fryns syndrome. Am J Med Genet 2000 0.90
19 myc gene amplification and expression in primary human neuroblastoma. Cancer Res 1990 0.90
20 Flanking markers for the gene causing von Recklinghausen neurofibromatosis (NF1). Am J Hum Genet 1989 0.88
21 Linkage analysis in von Recklinghausen neurofibromatosis (NF1) with DNA markers for chromosome 17. Genomics 1987 0.88
22 Neurobehavioral profiles of children with neurofibromatosis 1 referred for learning disabilities are sex-specific. Am J Med Genet 1996 0.84
23 ARMS test for diagnosis of factor VLeiden mutation, a common cause of inherited thrombotic tendency. J Clin Lab Anal 1996 0.84
24 A 21-21 tandem translocation with satellites on both long and short arms. J Med Genet 1974 0.84
25 Townes-Brocks syndrome versus expanded spectrum hemifacial microsomia: review of eight patients and further evidence of a "hot spot" for mutation in the SALL1 gene. Genet Med 2001 0.83
26 Facioscapulohumeral dystrophy presenting in infancy with facial diplegia and sensorineural deafness. Ann Neurol 1985 0.83
27 "Killian Syndrome", Pallister mosaic syndrome, or mosaic tetrasomy 12P? - an analysis. J Clin Dysmorphol 1983 0.82
28 Absence of true interchromosomal connectives in microsurgically isolated chromosomes. Exp Cell Res 1980 0.81
29 Random arrangement of mitotic chromosomes in radial metaphases of the Indian muntjac. Cytogenet Cell Genet 1977 0.80
30 T antigen banding on chromosomes of simian virus 40 infected muntjac cells. Cytogenet Cell Genet 1979 0.77
31 Complex familial rearrangement of chromosome 9p24.3 detected by FISH. Am J Med Genet 1998 0.76
32 Medical education in the 'postgenomic era'. Postgrad Med 2000 0.76
33 Microsurgically-extracted metaphase chromosomes of the Indian muntjac examined with phase contrast and scanning electron microscopy. Exp Cell Res 1978 0.76
34 The hereditary dystonias: an emerging story with a twist. Ann Neurol 1998 0.75
35 New genetics of hearing loss. Teratology 2000 0.75
36 Neuroimaging in children with neurofibromatosis type 1. J Pediatr 1993 0.75
37 Centromeres are arranged in clusters throughout the muntjac cell cycle. Exp Cell Res 1982 0.75
38 "New" mechanisms of genetic disease. Curr Opin Pediatr 1995 0.75
39 Cytogenetic and immunologic studies in chickens with autoimmune thyroiditis. J Hered 1974 0.75
40 Integration of genetics into medical practice: ethical, legal, and social perspective. Curr Opin Pediatr 2000 0.75
41 17q inversion involving the neurofibromatosis type one locus in a family with neurofibromatosis type one. Am J Med Genet 1995 0.75
42 Locomotor problems in infantile facioscapulohumeral muscular dystrophy. Retrospective study of 9 patients. Acta Orthop Scand 1991 0.75
43 Dynamic aspects of trypsin-giemsa banding. Humangenetik 1975 0.75
44 Genetics and the population. Curr Opin Pediatr 1996 0.75
45 The role of trypsin in the pre-treatment of chromosomes for Giemsa banding. Hum Genet 1976 0.75
46 Familial aggregation of small congenital nevomelanocytic nevi. Am J Med Genet 1985 0.75
47 Genetic testing and medical practice. Curr Opin Pediatr 2001 0.75
48 Use of Y chromosome specific probes to detect low level sex chromosome mosaicism. Clin Genet 1986 0.75
49 Emerging approaches toward the treatment of neurofibromatoses. Genet Med 2001 0.75
50 Galactose metabolism and reproductive history in women with type 1 neurofibromatosis. Am J Med Genet 1991 0.75
51 Dermatoglyphic patterns in newborns. Lancet 1973 0.75