PubRank

E Magenis

Author PubWeight™ 30.99‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 A common molecular basis for rearrangement disorders on chromosome 22q11. Hum Mol Genet 1999 4.14
2 Interstitial deletion of (17)(p11.2p11.2) in nine patients. Am J Med Genet 1986 3.12
3 Hemoglobin H disease and mental retardation: a new syndrome or a remarkable coincidence? N Engl J Med 1981 2.35
4 Characterization of the supernumerary chromosome in cat eye syndrome. Science 1986 2.19
5 Molecular definition of a region of chromosome 21 that causes features of the Down syndrome phenotype. Am J Hum Genet 1990 1.71
6 A somatic cell hybrid panel for localizing DNA segments near the Huntington's disease gene. Genomics 1987 1.42
7 Microphthalmia with linear skin defects (MLS) syndrome: clinical, cytogenetic, and molecular characterization. Am J Med Genet 1994 1.35
8 Pregnancy and the Turner syndrome. Obstet Gynecol 1978 1.29
9 Physical linkage of the genes for platelet membrane glycoproteins IIb and IIIa. Proc Natl Acad Sci U S A 1988 1.08
10 Quantification by flow cytometry of chromosome-17 deletions in Smith-Magenis syndrome patients. Hum Genet 1996 1.02
11 Nonfluorescent Y chromosomes. Cytologic evidence of origin. Hum Genet 1982 1.00
12 The genes coding for human pro alpha 1(IV) collagen and pro alpha 2(IV) collagen are both located at the end of the long arm of chromosome 13. Am J Hum Genet 1988 0.99
13 Resolution of breakpoints in a complex rearrangement by use of multiple staining techniques: confirmation of suspected 12p12.3 intraband by deletion dosage effect of LDHB. Am J Med Genet 1981 0.99
14 The Marden-Walker syndrome. J Med Genet 1978 0.96
15 The single copy gene coding for human alpha 1 (IV) procollagen is located at the terminal end of the long arm of chromosome 13. Hum Genet 1986 0.94
16 Partial trisomy 22: a recognizable syndrome. Clin Genet 1977 0.91
17 Down syndrome: toward a molecular definition of the phenotype. Am J Med Genet Suppl 1990 0.90
18 Linkage relationships of 1qh to Amy, Fy, PGM1, and Rh. Birth Defects Orig Artic Ser 1975 0.88
19 Bone marrow transplantation for severe combined immune deficiency in an infant with chimerism due to intrauterine-derived maternal lymphocytes: donor engraftment documented by chromosomal marker studies. Am J Med Genet 1984 0.84
20 The mouse and human excitatory amino acid transporter gene (EAAT1) maps to mouse chromosome 15 and a region of syntenic homology on human chromosome 5. Genomics 1994 0.82
21 Transient myeloproliferative disorder of the Down type in the normal newborn. Am J Dis Child 1990 0.79
22 A molecular approach to the study of the human Y chromosome and anomalies of sex determination in man. Cold Spring Harb Symp Quant Biol 1986 0.78
23 Translocation X;10 in a case of congenital acute monocytic leukemia. Cancer Genet Cytogenet 1985 0.77
24 Mosaic and hypermodal cells in amniotic fluid cell cultures. Am J Obstet Gynecol 1980 0.75
25 Linkage group I: multipoint mapping. Birth Defects Orig Artic Ser 1975 0.75
26 Turner syndrome in the offspring of artificially inseminated pregnancies. Fertil Steril 1978 0.75
27 Report of the fourth international workshop on human chromosome 15 mapping 1997. Cytogenet Cell Genet 1999 0.75
28 Comparison of maternal and fetal chromosome heteromorphisms to monitor maternal cell contamination in chorionic villus samples. Prenat Diagn 1987 0.75
29 Fetal wastage and chromosome anomalies in offspring of patients with Turner syndrome. Lancet 1977 0.75
30 Linkage group I: multipoint mapping. Cytogenet Cell Genet 1975 0.75
31 Linkage relationships of 1qh to Amy, Fy, PGM1, and Rh. Cytogenet Cell Genet 1975 0.75