PubRank

M C Phelan

Author PubWeight™ 33.57‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Molecular characterisation of the 22q13 deletion syndrome supports the role of haploinsufficiency of SHANK3/PROSAP2 in the major neurological symptoms. J Med Genet 2003 3.25
2 Paracentric inversions in humans: a review of 446 paracentric inversions with presentation of 120 new cases. Am J Med Genet 1995 2.39
3 Deletion of Huntington's disease-linked G8 (D4S10) locus in Wolf-Hirschhorn syndrome. Nature 1985 2.19
4 Autism and maternally derived aberrations of chromosome 15q. Am J Med Genet 1998 2.16
5 Detection of submicroscopic deletions in band 17p13 in patients with the Miller-Dieker syndrome. Am J Hum Genet 1988 1.83
6 Vascular steal: the pathogenetic mechanism producing sirenomelia and associated defects of the viscera and soft tissues. Pediatrics 1986 1.60
7 Evidence that methylation of the FMR-I locus is responsible for variable phenotypic expression of the fragile X syndrome. Am J Hum Genet 1993 1.47
8 Spectral karyotyping refines cytogenetic diagnostics of constitutional chromosomal abnormalities. Hum Genet 1997 1.33
9 Brachmann-de Lange syndrome: diagnostic difficulties posed by the mild phenotype. Am J Med Genet 1993 1.01
10 Microsatellite analysis reveals a high incidence of maternal cell contamination in 46,XX products of conception consisting of villi or a combination of villi and membranous material. Am J Obstet Gynecol 2001 1.01
11 Inverted duplication of 8p: ten new patients and review of the literature. Am J Med Genet 1993 0.99
12 Two sisters with a distal deletion at the Xq26/Xq27 interface: DNA studies indicate that the gene locus for factor IX is present. Hum Genet 1987 0.98
13 Beclomethasone mania. Br J Psychiatry 1989 0.94
14 Split foot and developmental retardation associated with a deletion of three microsatellite markers in 7q21.2-q22.1. Clin Genet 1995 0.94
15 DNA methylation analysis with respect to prenatal diagnosis of the Angelman and Prader-Willi syndromes and imprinting. Prenat Diagn 2000 0.93
16 Fragile X syndrome: incidence, clinical and cytogenetic findings in the black and white populations of South Carolina. Am J Med Genet 1988 0.91
17 Deletion involving D15S113 in a mother and son without Angelman syndrome: refinement of the Angelman syndrome critical deletion region. Am J Med Genet 1995 0.90
18 A deletion in the long arm of chromosome 18 in a child with serum carnosinase deficiency. Pediatr Res 1997 0.90
19 Most Jacobsen syndrome deletion breakpoints occur distal to FRA11B. Am J Med Genet 1998 0.88
20 Asymmetry of methylation with FMR-1 full mutation in two 45,X/46,XX mosaic females associated with normal intellect. Am J Med Genet 1994 0.87
21 Two patients with duplication of 17p11.2: the reciprocal of the Smith-Magenis syndrome deletion? Am J Med Genet 1996 0.85
22 Vascular basis for neural tube defects: a hypothesis. Pediatrics 1987 0.83
23 Discordant expression of fetal hydantoin syndrome in heteropaternal dizygotic twins. N Engl J Med 1982 0.81
24 Prenatal diagnosis of mosaicism for deletion 22q13.3. Prenat Diagn 2001 0.81
25 Intersitial deletion of 20p: new candidate region for Hirschsprung disease and autism? Am J Med Genet 1997 0.80
26 STK25 is a candidate gene for pseudopseudohypoparathyroidism. Genomics 2001 0.79
27 Fragile X syndrome: linkage analysis in black and white populations. Am J Med Genet 1988 0.77
28 Deletion mapping of plasminogen activator inhibitor, type I (PLANH1) and beta-glucuronidase (GUSB) in 7q21----q22. Cytogenet Cell Genet 1991 0.76
29 Determinants of ridge counts in MZ twin kinships. Acta Genet Med Gemellol (Roma) 1981 0.75
30 New method for obtaining uncontaminated urine from women. South Med J 1978 0.75
31 Physical mapping of probes proximal to the fragile X locus (FRAX) confirms the order F9-DXS105 (cX55.7)-DXS98 (4D8)-FRAXA. Cytogenet Cell Genet 1989 0.75