PubRank

F F Elder

Author PubWeight™ 44.99‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Mutations in a new photoreceptor-pineal gene on 17p cause Leber congenital amaurosis. Nat Genet 2000 2.85
2 Reversal of left-right asymmetry: a situs inversus mutation. Science 1993 2.56
3 Cytogenetic findings in a prospective series of patients with DiGeorge anomaly. Am J Hum Genet 1988 2.27
4 Mutations in exon 17B of cartilage oligomeric matrix protein (COMP) cause pseudoachondroplasia. Nat Genet 1995 2.25
5 Inversin, a novel gene in the vertebrate left-right axis pathway, is partially deleted in the inv mouse. Nat Genet 1998 1.83
6 Chromosome 1p36 deletions: the clinical phenotype and molecular characterization of a common newly delineated syndrome. Am J Hum Genet 1997 1.74
7 Molecular confirmation of Wolf-Hirschhorn syndrome with a subtle translocation of chromosome 4. Am J Hum Genet 1991 1.67
8 Fetal blood sampling demonstrating chimerism in monozygotic twins discordant for sex and tissue karyotype (46,XY and 45,X) Prenat Diagn 1990 1.60
9 Leukocyte adhesion deficiency mimicking Hirschsprung disease. J Pediatr 1995 1.49
10 Yeast stimulation of bone marrow mitosis for cytogenetic investigations. Cytogenet Cell Genet 1980 1.34
11 Familial Miller-Dieker syndrome associated with pericentric inversion of chromosome 17. Am J Med Genet 1986 1.13
12 Insertional mutation of the collagen genes Col4a3 and Col4a4 in a mouse model of Alport syndrome. Genomics 1999 1.13
13 Silver-stained accessory structures on human sex chromosomes. Hum Genet 1980 1.07
14 Identical twins with deletion 16q syndrome: evidence that 16q12.2-q13 is the critical band region. Hum Genet 1984 1.05
15 Prenatal diagnosis of uniparental disomy 15 following trisomy 15 mosaicism. Prenat Diagn 1996 1.01
16 A molecular cytogenetic analysis of X chromosome repatterning in the Bovidae: transpositions, inversions, and phylogenetic inference. Cytogenet Cell Genet 1998 0.97
17 Chromosomal localization of human and rat A alpha, B beta, and gamma fibrinogen genes by in situ hybridization. Cytogenet Cell Genet 1986 0.97
18 Human glutamate pyruvate transaminase (GPT): localization to 8q24.3, cDNA and genomic sequences, and polymorphic sites. Genomics 1997 0.95
19 45,X/46,X,+r(X) can have a distinct phenotype different from Ullrich-Turner syndrome. Am J Med Genet 1992 0.94
20 Tandem fusion, centric fusion, and chromosomal evolution in the cotton rats, genus Sigmodon. Cytogenet Cell Genet 1980 0.90
21 A 4-megabase YAC contig that spans the Langer-Giedion syndrome region on human chromosome 8q24.1: use in refining the location of the trichorhinophalangeal syndrome and multiple exostoses genes (TRPS1 and EXT1). Genomics 1995 0.90
22 Multiple common fragile sites are expressed in the genome of the laboratory rat. Chromosoma 1987 0.88
23 Characterization of human DSPG3, a small dermatan sulfate proteoglycan. Genomics 1996 0.86
24 YAC rescue of downless locus mutations in mice. Mamm Genome 1998 0.85
25 Expression of the rat liver carnitine palmitoyltransferase I (CPT-Ialpha) gene is regulated by Sp1 and nuclear factor Y: chromosomal localization and promoter characterization. Biochem J 1999 0.85
26 Brachmann-de Lange syndrome: autosomal dominant inheritance and male-to-male transmission. Am J Med Genet 1996 0.84
27 Identification of abnormal chromosomal complement in formalin-fixed, paraffin-embedded placental tissue. Prenat Diagn 1995 0.84
28 Asynaptic behavior of X and Y chromosomes in the Virginia oppossum and the southern pygmy mouse. Cytogenet Cell Genet 1980 0.84
29 Genomic DNA sequence, promoter expression, and chromosomal mapping of rat muscle carnitine palmitoyltransferase I. Genomics 1998 0.84
30 Light microscopic observations on the behavior of silver-stained trivalents in pachytene cells of Sigmodon fulviventer (Rodentia, Muridae) heterozygous for centric fusion. Cytogenet Cell Genet 1980 0.81
31 Establishment and characterization of a human myeloid cell line from Philadelphia chromosome-negative myeloblastic leukemia arising in a patient with myelodysplastic syndrome. Blood 1987 0.80
32 Chromosomal evolution in duiker antelope (Cephalophinae: Bovidae): karyotype comparisons, fluorescence in situ hybridization, and rampant X chromosome variation. Cytogenet Cell Genet 1996 0.80
33 Cytogenetic characterization of three human and three rat medullary thyroid carcinoma cell lines. Cancer Genet Cytogenet 1995 0.79
34 Isodicentric X chromosome in a patient with Turner syndrome--implications for localization of the X-inactivation center. Hum Genet 1991 0.79
35 X chromosome evolution in the suni and eland antelope: detection of homologous regions by fluorescence in situ hybridization and G-banding. Cytogenet Cell Genet 1997 0.78
36 Observations on the argentophilic properties of mammalian spermatids. Cytogenet Cell Genet 1982 0.78
37 Abnormality of platelet size and T-lymphocyte proliferation in an autosomal recessive form of dyskeratosis congenita. Eur J Haematol 1987 0.78
38 Cytogenetic abnormalities common to adenocarcinoma metastatic to the pleura. Cancer Genet Cytogenet 1989 0.77
39 Unbalanced translocation (15;17)(q13;13.3) with apparent Prader-Willi syndrome but without Miller-Dieker syndrome. Am J Med Genet 1985 0.77
40 Karyotypic conservatism in the genus Lepus (order Lagomorpha). Can J Genet Cytol 1983 0.76
41 Orthotopic ovarian transplantations in young and aged C57BL/6J mice. Biol Reprod 1985 0.76
42 Role of marrow stromal cells in the establishment of a transformed lymphoblastic B-cell line from a normal human subject. Leuk Res 1986 0.76
43 Evolution of chromosomal variation in cottontails, genus Sylvilagus (Mammalia: Lagomorpha): S. aquaticus, S. floridanus, and S. transitionalis. Cytogenet Cell Genet 1983 0.75
44 Evolution of chromosomal variation in cottontails, genus Sylvilagus (Mammalia: Lagomorpha). II. Sylvilagus audubonii, S. idahoensis, S. nuttallii, and S. palustris. Cytogenet Cell Genet 1984 0.75
45 Chromosomal evolution in the vlei rat, Otomys irroratus (Muridae: Otomyinae): a compound chromosomal rearrangement separates two major cytogenetic groups. Cytogenet Cell Genet 2001 0.75
46 Acute monoblastic leukemia with a single chromosomal rearrangement involving breakpoints on chromosomes 8 and 16, 46, XX, t(8;16)(p11;p13). Acta Haematol 1987 0.75
47 Cytogenetic features of childhood acute lymphoblastic leukemia. A concordance study and a Pediatric Oncology Group study. Cancer Genet Cytogenet 1991 0.75
48 Silver-staining patterns of mammalian epididymal spermatozoa. Cytogenet Cell Genet 1981 0.75
49 Neonatal diagnosis of Prader-Willi syndrome and its implications. Am J Med Genet 1987 0.75
50 Chromosomes of Brants' whistling rat and genome conservation in the Otomyinae revealed by G-banding and fluorescence in situ hybridization. Cytogenet Cell Genet 1997 0.75
51 Neutropenia and defective chemotaxis associated with binuclear, tetraploid myeloid-monocytic leukocytes. J Pediatr 1987 0.75