A citation-based method for searching scientific literature

S Odent, B Le Marec, A Munnich, M Le Merrer, C Bonaïti-Pellié. Am J Med Genet 1998
Times Cited: 43







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



Times Cited
  Times     Co-cited
Similarity


The mutational spectrum of the sonic hedgehog gene in holoprosencephaly: SHH mutations cause a significant proportion of autosomal dominant holoprosencephaly.
L Nanni, J E Ming, M Bocian, K Steinhaus, D W Bianchi, C Die-Smulders, A Giannotti, K Imaizumi, K L Jones, M D Campo,[...]. Hum Mol Genet 1999
258
39

Mutations in the human Sonic Hedgehog gene cause holoprosencephaly.
E Roessler, E Belloni, K Gaudenz, P Jay, P Berta, S W Scherer, L C Tsui, M Muenke. Nat Genet 1996
840
37

Holoprosencephaly due to mutations in ZIC2, a homologue of Drosophila odd-paired.
S A Brown, D Warburton, L Y Brown, C Y Yu, E R Roeder, S Stengel-Rutkowski, R C Hennekam, M Muenke. Nat Genet 1998
365
34


Holoprosencephaly in infants of diabetic mothers.
M Barr, J W Hanson, K Currey, S Sharp, H Toriello, R D Schmickel, G N Wilson. J Pediatr 1983
159
32

Mutations in TGIF cause holoprosencephaly and link NODAL signalling to human neural axis determination.
K W Gripp, D Wotton, M C Edwards, E Roessler, L Ades, P Meinecke, A Richieri-Costa, E H Zackai, J Massagué, M Muenke,[...]. Nat Genet 2000
300
32

Identification of Sonic hedgehog as a candidate gene responsible for holoprosencephaly.
E Belloni, M Muenke, E Roessler, G Traverso, J Siegel-Bartelt, A Frumkin, H F Mitchell, H Donis-Keller, C Helms, A V Hing,[...]. Nat Genet 1996
487
30

Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly.
D E Wallis, E Roessler, U Hehr, L Nanni, T Wiltshire, A Richieri-Costa, G Gillessen-Kaesbach, E H Zackai, J Rommens, M Muenke. Nat Genet 1999
283
30



Molecular screening of SHH, ZIC2, SIX3, and TGIF genes in patients with features of holoprosencephaly spectrum: Mutation review and genotype-phenotype correlations.
Christèle Dubourg, Leïla Lazaro, Laurent Pasquier, Claude Bendavid, Martine Blayau, Franck Le Duff, Marie-Renée Durou, Sylvie Odent, Véronique David. Hum Mutat 2004
115
30



Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephaly.
Jeffrey E Ming, Michelle E Kaupas, Erich Roessler, Han G Brunner, Mahin Golabi, Mustafa Tekin, Robert F Stratton, Eva Sujansky, Sherri J Bale, Maximilian Muenke. Hum Genet 2002
158
27


Loss-of-function mutations in the human GLI2 gene are associated with pituitary anomalies and holoprosencephaly-like features.
Erich Roessler, Yang-Zhu Du, Jose L Mullor, Esther Casas, William P Allen, Gabriele Gillessen-Kaesbach, Elizabeth R Roeder, Jeffrey E Ming, Ariel Ruiz i Altaba, Maximilian Muenke. Proc Natl Acad Sci U S A 2003
236
25

Phenotypic and molecular variability of the holoprosencephalic spectrum.
Leila Lazaro, Christéle Dubourg, Laurent Pasquier, Franck Le Duff, Martine Blayau, Marie-Renée Durou, Armelle Thomas de la Pintière, Céline Aguilella, Véronique David, Sylvie Odent. Am J Med Genet A 2004
55
25

Holoprosencephaly.
Christèle Dubourg, Claude Bendavid, Laurent Pasquier, Catherine Henry, Sylvie Odent, Véronique David. Orphanet J Rare Dis 2007
222
25

A loss-of-function mutation in the CFC domain of TDGF1 is associated with human forebrain defects.
June M de la Cruz, Richard N Bamford, Rebecca D Burdine, Erich Roessler, A James Barkovich, Dian Donnai, Alexander F Schier, Maximilian Muenke. Hum Genet 2002
80
23

Expression of the Sonic hedgehog (SHH ) gene during early human development and phenotypic expression of new mutations causing holoprosencephaly.
S Odent, T Atti-Bitach, M Blayau, M Mathieu, J Aug, A L Delezo de, J Y Gall, B Le Marec, A Munnich, V David,[...]. Hum Mol Genet 1999
110
20


Holoprosencephaly in the west of Scotland 1975-1994.
M L Whiteford, J L Tolmie. J Med Genet 1996
39
23

Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and function.
F Lacbawan, B D Solomon, E Roessler, K El-Jaick, S Domené, J I Vélez, N Zhou, D Hadley, J Z Balog, R Long,[...]. J Med Genet 2009
65
20


Molecular mechanisms of holoprosencephaly.
D E Wallis, M Muenke. Mol Genet Metab 1999
99
18




The molecular genetics of holoprosencephaly.
Erich Roessler, Maximilian Muenke. Am J Med Genet C Semin Med Genet 2010
155
18

Non-genetic risk factors for holoprosencephaly.
Candice Y Johnson, Sonja A Rasmussen. Am J Med Genet C Semin Med Genet 2010
45
18

Cyclopia and defective axial patterning in mice lacking Sonic hedgehog gene function.
C Chiang, Y Litingtung, E Lee, K E Young, J L Corden, H Westphal, P A Beachy. Nature 1996
16

Holoprosencephaly: birth data, benetic and demographic analyses of 30 families.
E Roach, W Demyer, P M Conneally, C Palmer, A D Merritt. Birth Defects Orig Artic Ser 1975
106
16

Holoprosencephaly due to mutations in ZIC2: alanine tract expansion mutations may be caused by parental somatic recombination.
L Y Brown, S Odent, V David, M Blayau, C Dubourg, C Apacik, M A Delgado, B D Hall, J F Reynolds, A Sommer,[...]. Hum Mol Genet 2001
138
16

Fetal holoprosencephaly: associated malformations and chromosomal defects.
S M Berry, C Gosden, R J Snijders, K H Nicolaides. Fetal Diagn Ther 1990
32
18

Mutations in holoprosencephaly.
D Wallis, M Muenke. Hum Mutat 2000
137
13

Molecular evaluation of foetuses with holoprosencephaly shows high incidence of microdeletions in the HPE genes.
Claude Bendavid, Christèle Dubourg, Isabelle Gicquel, Laurent Pasquier, Pascale Saugier-Veber, Marie-Renée Durou, Sylvie Jaillard, Thierry Frébourg, Bassem R Haddad, Catherine Henry,[...]. Hum Genet 2006
43
13

Analysis of genotype-phenotype correlations in human holoprosencephaly.
Benjamin D Solomon, Sandra Mercier, Jorge I Vélez, Daniel E Pineda-Alvarez, Adrian Wyllie, Nan Zhou, Christèle Dubourg, Veronique David, Sylvie Odent, Erich Roessler,[...]. Am J Med Genet C Semin Med Genet 2010
107
13

Array-CGH analysis indicates a high prevalence of genomic rearrangements in holoprosencephaly: an updated map of candidate loci.
Claude Bendavid, Lucie Rochard, Christèle Dubourg, Jonathan Seguin, Isabelle Gicquel, Laurent Pasquier, Jaqueline Vigneron, Annie Laquerrière, Pascale Marcorelles, Corinne Jeanne-Pasquier,[...]. Hum Mutat 2009
35
17

Risk factors for non-syndromic holoprosencephaly in the National Birth Defects Prevention Study.
Eric A Miller, Sonja A Rasmussen, Anna Maria Siega-Riz, Jaime L Frías, Margaret A Honein. Am J Med Genet C Semin Med Genet 2010
43
13

Holoprosencephaly: An update on cytogenetic abnormalities.
Claude Bendavid, Valérie Dupé, Lucie Rochard, Isabelle Gicquel, Christèle Dubourg, Véronique David. Am J Med Genet C Semin Med Genet 2010
35
17

Current recommendations for the molecular evaluation of newly diagnosed holoprosencephaly patients.
Daniel E Pineda-Alvarez, Christèle Dubourg, Véronique David, Erich Roessler, Maximilian Muenke. Am J Med Genet C Semin Med Genet 2010
46
13

Epidemiology of holoprosencephaly: Prevalence and risk factors.
Iêda M Orioli, Eduardo E Castilla. Am J Med Genet C Semin Med Genet 2010
62
13

The mutational spectrum of holoprosencephaly-associated changes within the SHH gene in humans predicts loss-of-function through either key structural alterations of the ligand or its altered synthesis.
Erich Roessler, Kenia B El-Jaick, Christèle Dubourg, Jorge I Vélez, Benjamin D Solomon, Daniel E Pineda-Alvarez, Felicitas Lacbawan, Nan Zhou, Maia Ouspenskaia, Aimée Paulussen,[...]. Hum Mutat 2009
62
13


Holoprosencephaly: from Homer to Hedgehog.
J E Ming, M Muenke. Clin Genet 1998
98
11

A new mutation in the six-domain of SIX3 gene causes holoprosencephaly.
L Pasquier, C Dubourg, M Blayau, L Lazaro, B Le Marec, V David, S Odent. Eur J Hum Genet 2000
53
11

Holoprosencephaly in RSH/Smith-Lemli-Opitz syndrome: does abnormal cholesterol metabolism affect the function of Sonic Hedgehog?
R L Kelley, E Roessler, R C Hennekam, G L Feldman, K Kosaki, M C Jones, J C Palumbos, M Muenke. Am J Med Genet 1996
166
11

Holoprosencephaly survival and performance.
M Barr, M M Cohen. Am J Med Genet 1999
62
11

Multicolour FISH and quantitative PCR can detect submicroscopic deletions in holoprosencephaly patients with a normal karyotype.
C Bendavid, B R Haddad, A Griffin, M Huizing, C Dubourg, I Gicquel, L R Cavalli, L Pasquier, A L Shanske, R Long,[...]. J Med Genet 2006
36
13

Evaluation and management of children with holoprosencephaly.
Jin S Hahn, Lauren L Plawner. Pediatr Neurol 2004
47
11


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.