A citation-based method for searching scientific literature

A K Ryan, K Bartlett, P Clayton, S Eaton, L Mills, D Donnai, R M Winter, J Burn. J Med Genet 1998
Times Cited: 174







List of co-cited articles
998 articles co-cited >1



Times Cited
  Times     Co-cited
Similarity


The Smith-Lemli-Opitz syndrome.
R I Kelley, R C Hennekam. J Med Genet 2000
332
57

Defective cholesterol biosynthesis associated with the Smith-Lemli-Opitz syndrome.
G S Tint, M Irons, E R Elias, A K Batta, R Frieden, T S Chen, G Salen. N Engl J Med 1994
631
47

A NEWLY RECOGNIZED SYNDROME OF MULTIPLE CONGENITAL ANOMALIES.
D W SMITH, L LEMLI, J M OPITZ. J Pediatr 1964
544
37

Mutations in the human sterol delta7-reductase gene at 11q12-13 cause Smith-Lemli-Opitz syndrome.
C A Wassif, C Maslen, S Kachilele-Linjewile, D Lin, L M Linck, W E Connor, R D Steiner, F D Porter. Am J Hum Genet 1998
305
36

Defective cholesterol biosynthesis in Smith-Lemli-Opitz syndrome.
M Irons, E R Elias, G Salen, G S Tint, A K Batta. Lancet 1993
297
36

Mutations in the Delta7-sterol reductase gene in patients with the Smith-Lemli-Opitz syndrome.
B U Fitzky, M Witsch-Baumgartner, M Erdel, J N Lee, Y K Paik, H Glossmann, G Utermann, F F Moebius. Proc Natl Acad Sci U S A 1998
296
31

Smith-Lemli-Opitz syndrome is caused by mutations in the 7-dehydrocholesterol reductase gene.
H R Waterham, F A Wijburg, R C Hennekam, P Vreken, B T Poll-The, L Dorland, M Duran, P E Jira, J A Smeitink, R A Wevers,[...]. Am J Hum Genet 1998
219
26

Behavior phenotype in the RSH/Smith-Lemli-Opitz syndrome.
E Tierney, N A Nwokoro, F D Porter, L S Freund, J K Ghuman, R I Kelley. Am J Med Genet 2001
120
26



Mutational spectrum in the Delta7-sterol reductase gene and genotype-phenotype correlation in 84 patients with Smith-Lemli-Opitz syndrome.
M Witsch-Baumgartner, B U Fitzky, M Ogorelkova, H G Kraft, F F Moebius, H Glossmann, U Seedorf, G Gillessen-Kaesbach, G F Hoffmann, P Clayton,[...]. Am J Hum Genet 2000
145
23

Clinical effects of cholesterol supplementation in six patients with the Smith-Lemli-Opitz syndrome (SLOS)
E R Elias, M B Irons, A D Hurley, G S Tint, G Salen. Am J Med Genet 1997
126
21


Molecular cloning and expression of the human delta7-sterol reductase.
F F Moebius, B U Fitzky, J N Lee, Y K Paik, H Glossmann. Proc Natl Acad Sci U S A 1998
167
19



The near universal presence of autism spectrum disorders in children with Smith-Lemli-Opitz syndrome.
Darryn M Sikora, Kersti Pettit-Kekel, Jennifer Penfield, Louise S Merkens, Robert D Steiner. Am J Med Genet A 2006
117
18

Inborn errors of sterol biosynthesis.
R I Kelley, G E Herman. Annu Rev Genomics Hum Genet 2001
155
17

Treatment of Smith-Lemli-Opitz syndrome: results of a multicenter trial.
M Irons, E R Elias, D Abuelo, M J Bull, C L Greene, V P Johnson, L Keppen, C Schanen, G S Tint, G Salen. Am J Med Genet 1997
100
17

Cholesterol supplementation does not improve developmental progress in Smith-Lemli-Opitz syndrome.
Darryn M Sikora, Mark Ruggiero, Kersti Petit-Kekel, Louise S Merkens, William E Connor, Robert D Steiner. J Pediatr 2004
47
34


A new face for an old syndrome.
R I Kelley. Am J Med Genet 1997
55
27


3beta-hydroxysterol Delta7-reductase and the Smith-Lemli-Opitz syndrome.
Lina S Correa-Cerro, Forbes D Porter. Mol Genet Metab 2005
63
23

Correlation of severity and outcome with plasma sterol levels in variants of the Smith-Lemli-Opitz syndrome.
G S Tint, G Salen, A K Batta, S Shefer, M Irons, E R Elias, D N Abuelo, V P Johnson, M Lambert, R Lutz. J Pediatr 1995
114
15

Identification of three patients with a very mild form of Smith-Lemli-Opitz syndrome.
Fernanda A A Langius, Hans R Waterham, Gerrit Jan Romeijn, Wendy Oostheim, Martina M J de Barse, Lambertus Dorland, Marinus Duran, Frits A Beemer, Ronald J A Wanders, Bwee Tien Poll-The. Am J Med Genet A 2003
25
56


Simvastatin. A new therapeutic approach for Smith-Lemli-Opitz syndrome.
P E Jira, R A Wevers, J de Jong, E Rubio-Gozalbo, F S Janssen-Zijlstra, A F van Heyst, R C Sengers, J A Smeitink. J Lipid Res 2000
69
20

Prenatal diagnosis of the RSH/Smith-Lemli-Opitz syndrome.
L E Kratz, R I Kelley. Am J Med Genet 1999
71
19

Incidence of Smith-Lemli-Opitz syndrome in Slovakia.
V Bzdúch, D Behúlová, J Skodová. Am J Med Genet 2000
38
36

Behavioral phenotype of RSH/Smith-Lemli-Opitz syndrome.
E Tierney, N A Nwokoro, R I Kelley. Ment Retard Dev Disabil Res Rev 2000
50
28

Effects of cholesterol and simvastatin treatment in patients with Smith-Lemli-Opitz syndrome (SLOS).
D Haas, S F Garbade, C Vohwinkel, N Muschol, F K Trefz, J M Penzien, J Zschocke, G F Hoffmann, P Burgard. J Inherit Metab Dis 2007
46
30

Mutations in the human DHCR7 gene.
M Witsch-Baumgartner, J Löffler, G Utermann. Hum Mutat 2001
52
25

Frequency gradients of DHCR7 mutations in patients with Smith-Lemli-Opitz syndrome in Europe: evidence for different origins of common mutations.
M Witsch-Baumgartner, E Ciara, J Löffler, H J Menzel, U Seedorf, J Burn, G Gillessen-Kaesbach, G F Hoffmann, B U Fitzky, H Mundy,[...]. Eur J Hum Genet 2001
50
26

RSH (so-called Smith-Lemli-Opitz) syndrome.
J M Opitz. Curr Opin Pediatr 1999
54
24

Malformation syndromes caused by disorders of cholesterol synthesis.
Forbes D Porter, Gail E Herman. J Lipid Res 2011
263
13

Smith-Lemli-Opitz syndrome-type II: multiple congenital anomalies with male pseudohermaphroditism and frequent early lethality.
C J Curry, J C Carey, J S Holland, D Chopra, R Fineman, M Golabi, S Sherman, R A Pagon, J Allanson, S Shulman. Am J Med Genet 1987
155
12

Spectrum of Delta(7)-dehydrocholesterol reductase mutations in patients with the Smith-Lemli-Opitz (RSH) syndrome.
H Yu, M H Lee, L Starck, E R Elias, M Irons, G Salen, S B Patel, G S Tint. Hum Mol Genet 2000
73
16

Incidence of Smith-Lemli-Opitz syndrome in Canada: results of three-year population surveillance.
Małgorzata J M Nowaczyk, Susan Zeesman, John S Waye, James D Douketis. J Pediatr 2004
23
52

Maternal apo E genotype is a modifier of the Smith-Lemli-Opitz syndrome.
M Witsch-Baumgartner, M Gruber, H G Kraft, M Rossi, P Clayton, M Giros, D Haas, R I Kelley, M Krajewska-Walasek, G Utermann. J Med Genet 2004
58
20

A defective response to Hedgehog signaling in disorders of cholesterol biosynthesis.
Michael K Cooper, Christopher A Wassif, Patrycja A Krakowiak, Jussi Taipale, Ruoyu Gong, Richard I Kelley, Forbes D Porter, Philip A Beachy. Nat Genet 2003
276
12

Biochemical, phenotypic and neurophysiological characterization of a genetic mouse model of RSH/Smith--Lemli--Opitz syndrome.
C A Wassif, P Zhu, L Kratz, P A Krakowiak, K P Battaile, F F Weight, A Grinberg, R D Steiner, N A Nwokoro, R I Kelley,[...]. Hum Mol Genet 2001
129
12

Development and characterization of a hypomorphic Smith-Lemli-Opitz syndrome mouse model and efficacy of simvastatin therapy.
Lina S Correa-Cerro, Christopher A Wassif, Lisa Kratz, Georgina F Miller, Jeeva P Munasinghe, Alexander Grinberg, Steven J Fliesler, Forbes D Porter. Hum Mol Genet 2006
49
24

Residual cholesterol synthesis and simvastatin induction of cholesterol synthesis in Smith-Lemli-Opitz syndrome fibroblasts.
Christopher A Wassif, Patrycja A Krakowiak, Brooke S Wright, Jennifer S Gewandter, Allison L Sterner, Norman Javitt, Alfred L Yergey, Forbes D Porter. Mol Genet Metab 2005
43
27

Incidence of Smith-Lemli-Opitz syndrome in Ontario, Canada.
M J Nowaczyk, D McCaughey, D T Whelan, F D Porter. Am J Med Genet 2001
32
34

Analysis of short-term behavioral effects of dietary cholesterol supplementation in Smith-Lemli-Opitz syndrome.
Elaine Tierney, Sandra K Conley, Halima Goodwin, Forbes D Porter. Am J Med Genet A 2010
37
29

Lathosterolosis: an inborn error of human and murine cholesterol synthesis due to lathosterol 5-desaturase deficiency.
Patrycja A Krakowiak, Christopher A Wassif, Lisa Kratz, Diana Cozma, Martina Kovárová, Ginny Harris, Alexander Grinberg, Yinzi Yang, Alasdair G W Hunter, Maria Tsokos,[...]. Hum Mol Genet 2003
106
10


Lathosterolosis, a novel multiple-malformation/mental retardation syndrome due to deficiency of 3beta-hydroxysteroid-delta5-desaturase.
Nicola Brunetti-Pierri, Gaetano Corso, Massimiliano Rossi, Paola Ferrari, Fiorella Balli, Francesco Rivasi, Ida Annunziata, Andrea Ballabio, Antonio Dello Russo, Generoso Andria,[...]. Am J Hum Genet 2002
80
12

Cholesterol and development: the RSH ("Smith-Lemli-Opitz") syndrome and related conditions.
John M Opitz, Enid Gilbert-Barness, Jeanie Ackerman, Amy Lowichik. Pediatr Pathol Mol Med 2002
46
21


Co-cited is the co-citation frequency, indicating how many articles cite the article together with the query article. Similarity is the co-citation as percentage of the times cited of the query article or the article in the search results, whichever is the lowest. These numbers are calculated for the last 100 citations when articles are cited more than 100 times.