A citation-based method for searching scientific literature

Erich Roessler, Yong Ma, Maia V Ouspenskaia, Felicitas Lacbawan, Claude Bendavid, Christèle Dubourg, Philip A Beachy, Maximilian Muenke. Hum Genet 2009
Times Cited: 50







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



Times Cited
  Times     Co-cited
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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
56

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
56

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
50

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
50

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
42

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
38


Hedgehog-mediated patterning of the mammalian embryo requires transporter-like function of dispatched.
Yong Ma, Alfrun Erkner, Ruoyu Gong, Shenqin Yao, Jussi Taipale, Konrad Basler, Philip A Beachy. Cell 2002
218
32

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
32

Reduced NODAL signaling strength via mutation of several pathway members including FOXH1 is linked to human heart defects and holoprosencephaly.
Erich Roessler, Maia V Ouspenskaia, Jayaprakash D Karkera, Jorge I Vélez, Amy Kantipong, Felicitas Lacbawan, Peter Bowers, John W Belmont, Jeffrey A Towbin, Elizabeth Goldmuntz,[...]. Am J Hum Genet 2008
103
32

Holoprosencephaly.
Christèle Dubourg, Claude Bendavid, Laurent Pasquier, Catherine Henry, Sylvie Odent, Véronique David. Orphanet J Rare Dis 2007
222
30

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
30

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
30

The molecular genetics of holoprosencephaly.
Erich Roessler, Maximilian Muenke. Am J Med Genet C Semin Med Genet 2010
155
28

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
26

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
26

Mutations in CDON, encoding a hedgehog receptor, result in holoprosencephaly and defective interactions with other hedgehog receptors.
Gyu-Un Bae, Sabina Domené, Erich Roessler, Karen Schachter, Jong-Sun Kang, Maximilian Muenke, Robert S Krauss. Am J Hum Genet 2011
90
26

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
24

Mouse Disp1 is required in sonic hedgehog-expressing cells for paracrine activity of the cholesterol-modified ligand.
Hua Tian, Juhee Jeong, Brian D Harfe, Clifford J Tabin, Andrew P McMahon. Development 2005
73
24

The discovery of microdeletion syndromes in the post-genomic era: review of the methodology and characterization of a new 1q41q42 microdeletion syndrome.
Lisa G Shaffer, Aaron Theisen, Bassem A Bejjani, Blake C Ballif, Arthur S Aylsworth, Cynthia Lim, Marie McDonald, Jay W Ellison, Dana Kostiner, Sulagna Saitta,[...]. Genet Med 2007
125
24

Cumulative ligand activity of NODAL mutations and modifiers are linked to human heart defects and holoprosencephaly.
Erich Roessler, Wuhong Pei, Maia V Ouspenskaia, Jayaprakash D Karkera, Jorge Ivan Veléz, Sharmilla Banerjee-Basu, Gretchen Gibney, Philip J Lupo, Laura E Mitchell, Jeffrey A Towbin,[...]. Mol Genet Metab 2009
50
24

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
24

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
34

The full spectrum of holoprosencephaly-associated mutations within the ZIC2 gene in humans predicts loss-of-function as the predominant disease mechanism.
Erich Roessler, Felicitas Lacbawan, Christèle Dubourg, Aimee Paulussen, Jos Herbergs, Ute Hehr, Claude Bendavid, Nan Zhou, Maia Ouspenskaia, Sherri Bale,[...]. Hum Mutat 2009
49
22

A previously unidentified amino-terminal domain regulates transcriptional activity of wild-type and disease-associated human GLI2.
Erich Roessler, Alexandre N Ermilov, Dorothy Katherine Grange, Aiqin Wang, Marina Grachtchouk, Andrzej A Dlugosz, Maximilian Muenke. Hum Mol Genet 2005
126
22

Holoprosencephaly: clinical, anatomic, and molecular dimensions.
M Michael Cohen. Birth Defects Res A Clin Mol Teratol 2006
139
22

GLI2 mutations in four Brazilian patients: how wide is the phenotypic spectrum?
Fedik Rahimov, Lucilene Arilho Ribeiro, Eziquiel de Miranda, Antonio Richieri-Costa, Jeffrey C Murray. Am J Med Genet A 2006
42
26

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
23

Functional analysis of mutations in TGIF associated with holoprosencephaly.
Kenia B El-Jaick, Shannon E Powers, Laurent Bartholin, Kenneth R Myers, Jin Hahn, Ieda M Orioli, Maia Ouspenskaia, Felicitas Lacbawan, Erich Roessler, David Wotton,[...]. Mol Genet Metab 2007
54
20

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
20

Mutational Spectrum in Holoprosencephaly Shows That FGF is a New Major Signaling Pathway.
Christèle Dubourg, Wilfrid Carré, Houda Hamdi-Rozé, Charlotte Mouden, Joëlle Roume, Benmansour Abdelmajid, Daniel Amram, Clarisse Baumann, Nicolas Chassaing, Christine Coubes,[...]. Hum Mutat 2016
38
26

Zic2-associated holoprosencephaly is caused by a transient defect in the organizer region during gastrulation.
Nicholas Warr, Nicola Powles-Glover, Anna Chappell, Joan Robson, Dominic Norris, Ruth M Arkell. Hum Mol Genet 2008
68
18

Mutations in the human SIX3 gene in holoprosencephaly are loss of function.
Sabina Domené, Erich Roessler, Kenia B El-Jaick, Mirit Snir, Jamie L Brown, Jorge I Vélez, Sherri Bale, Felicitas Lacbawan, Maximilian Muenke, Benjamin Feldman. Hum Mol Genet 2008
41
21

Mutations in the C-terminal domain of Sonic Hedgehog cause holoprosencephaly.
E Roessler, E Belloni, K Gaudenz, F Vargas, S W Scherer, L C Tsui, M Muenke. Hum Mol Genet 1997
132
18


Genetics of ventral forebrain development and holoprosencephaly.
M Muenke, P A Beachy. Curr Opin Genet Dev 2000
198
18

Mutations in ZIC2 in human holoprosencephaly: description of a novel ZIC2 specific phenotype and comprehensive analysis of 157 individuals.
Benjamin D Solomon, Felicitas Lacbawan, Sandra Mercier, Nancy J Clegg, Mauricio R Delgado, Kenneth Rosenbaum, Christèle Dubourg, Veronique David, Ann Haskins Olney, Lars-Erik Wehner,[...]. J Med Genet 2010
57
18

New findings for phenotype-genotype correlations in a large European series of holoprosencephaly cases.
Sandra Mercier, Christèle Dubourg, Nicolas Garcelon, Boris Campillo-Gimenez, Isabelle Gicquel, Marion Belleguic, Leslie Ratié, Laurent Pasquier, Philippe Loget, Claude Bendavid,[...]. J Med Genet 2011
76
18

Holoprosencephaly and holoprosencephaly-like phenotype and GAS1 DNA sequence changes: Report of four Brazilian patients.
Lucilene Arilho Ribeiro, Rodrigo Gonçalves Quiezi, Adriana Nascimento, Claudia Pereira Bertolacini, Antonio Richieri-Costa. Am J Med Genet A 2010
39
23

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
22

SHH mutation is associated with solitary median maxillary central incisor: a study of 13 patients and review of the literature.
L Nanni, J E Ming, Y Du, R K Hall, M Aldred, A Bankier, M Muenke. Am J Med Genet 2001
100
16

Regulation of a remote Shh forebrain enhancer by the Six3 homeoprotein.
Yongsu Jeong, Federico Coluccio Leskow, Kenia El-Jaick, Erich Roessler, Maximilian Muenke, Anastasia Yocum, Christele Dubourg, Xue Li, Xin Geng, Guillermo Oliver,[...]. Nat Genet 2008
130
16

Holoprosencephaly: new models, new insights.
Robert S Krauss. Expert Rev Mol Med 2007
40
20


Gas1 is a modifier for holoprosencephaly and genetically interacts with sonic hedgehog.
Maisa Seppala, Michael J Depew, David C Martinelli, Chen-Ming Fan, Paul T Sharpe, Martyn T Cobourne. J Clin Invest 2007
95
16


The cell surface membrane proteins Cdo and Boc are components and targets of the Hedgehog signaling pathway and feedback network in mice.
Toyoaki Tenzen, Benjamin L Allen, Francesca Cole, Jong-Sun Kang, Robert S Krauss, Andrew P McMahon. Dev Cell 2006
265
16

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
22

Teratogenesis of holoprosencephaly.
M Michael Cohen, Kohei Shiota. Am J Med Genet 2002
131
16

Mouse dispatched mutants fail to distribute hedgehog proteins and are defective in hedgehog signaling.
Takatoshi Kawakami, T'Nay Kawcak, Ya-Jun Li, Wanhui Zhang, Yongmei Hu, Pao-Tien Chuang. Development 2002
112
16


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.