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Times Cited: 856
Times Cited: 856
Times Cited
Times Co-cited
Similarity
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
C Chiang, Y Litingtung, E Lee, K E Young, J L Corden, H Westphal, P A Beachy. Nature 1996
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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
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
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The molecular genetics of holoprosencephaly.
Erich Roessler, Maximilian Muenke. Am J Med Genet C Semin Med Genet 2010
Erich Roessler, Maximilian Muenke. Am J Med Genet C Semin Med Genet 2010
18
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
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
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Hedgehog signaling in animal development: paradigms and principles.
P W Ingham, A P McMahon. Genes Dev 2001
P W Ingham, A P McMahon. Genes Dev 2001
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The mechanisms of Hedgehog signalling and its roles in development and disease.
James Briscoe, Pascal P Thérond. Nat Rev Mol Cell Biol 2013
James Briscoe, Pascal P Thérond. Nat Rev Mol Cell Biol 2013
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Mutations affecting segment number and polarity in Drosophila.
C Nüsslein-Volhard, E Wieschaus. Nature 1980
C Nüsslein-Volhard, E Wieschaus. Nature 1980
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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
Christèle Dubourg, Wilfrid Carré, Houda Hamdi-Rozé, Charlotte Mouden, Joëlle Roume, Benmansour Abdelmajid, Daniel Amram, Clarisse Baumann, Nicolas Chassaing, Christine Coubes,[...]. Hum Mutat 2016
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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
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14
Genotypic and phenotypic analysis of 396 individuals with mutations in Sonic Hedgehog.
Benjamin D Solomon, Kelly A Bear, Adrian Wyllie, Amelia A Keaton, Christele Dubourg, Veronique David, Sandra Mercier, Sylvie Odent, Ute Hehr, Aimee Paulussen,[...]. J Med Genet 2012
Benjamin D Solomon, Kelly A Bear, Adrian Wyllie, Amelia A Keaton, Christele Dubourg, Veronique David, Sandra Mercier, Sylvie Odent, Ute Hehr, Aimee Paulussen,[...]. J Med Genet 2012
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Holoprosencephaly.
Christèle Dubourg, Claude Bendavid, Laurent Pasquier, Catherine Henry, Sylvie Odent, Véronique David. Orphanet J Rare Dis 2007
Christèle Dubourg, Claude Bendavid, Laurent Pasquier, Catherine Henry, Sylvie Odent, Véronique David. Orphanet J Rare Dis 2007
14
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
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
14
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
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
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Mutations in TGIF cause holoprosencephaly and link NODAL signalling to human neural axis determination.
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Genetics of ventral forebrain development and holoprosencephaly.
M Muenke, P A Beachy. Curr Opin Genet Dev 2000
M Muenke, P A Beachy. Curr Opin Genet Dev 2000
12
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
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
12
Sonic hedgehog, a member of a family of putative signaling molecules, is implicated in the regulation of CNS polarity.
Y Echelard, D J Epstein, B St-Jacques, L Shen, J Mohler, J A McMahon, A P McMahon. Cell 1993
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12
BOC is a modifier gene in holoprosencephaly.
Mingi Hong, Kshitij Srivastava, Sungjin Kim, Benjamin L Allen, Daniel J Leahy, Ping Hu, Erich Roessler, Robert S Krauss, Maximilian Muenke. Hum Mutat 2017
Mingi Hong, Kshitij Srivastava, Sungjin Kim, Benjamin L Allen, Daniel J Leahy, Ping Hu, Erich Roessler, Robert S Krauss, Maximilian Muenke. Hum Mutat 2017
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Holoprosencephaly: signaling interactions between the brain and the face, the environment and the genes, and the phenotypic variability in animal models and humans.
Anna Petryk, Daniel Graf, Ralph Marcucio. Wiley Interdiscip Rev Dev Biol 2015
Anna Petryk, Daniel Graf, Ralph Marcucio. Wiley Interdiscip Rev Dev Biol 2015
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
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
14
Inhibition of Hedgehog signaling by direct binding of cyclopamine to Smoothened.
James K Chen, Jussi Taipale, Michael K Cooper, Philip A Beachy. Genes Dev 2002
James K Chen, Jussi Taipale, Michael K Cooper, Philip A Beachy. Genes Dev 2002
11
Cholesterol modification of hedgehog signaling proteins in animal development.
J A Porter, K E Young, P A Beachy. Science 1996
J A Porter, K E Young, P A Beachy. Science 1996
10
The teratogenic effects of prenatal ethanol exposure are exacerbated by Sonic Hedgehog or GLI2 haploinsufficiency in the mouse.
Henry W Kietzman, Joshua L Everson, Kathleen K Sulik, Robert J Lipinski. PLoS One 2014
Henry W Kietzman, Joshua L Everson, Kathleen K Sulik, Robert J Lipinski. PLoS One 2014
12
Patched1 regulates hedgehog signaling at the primary cilium.
Rajat Rohatgi, Ljiljana Milenkovic, Matthew P Scott. Science 2007
Rajat Rohatgi, Ljiljana Milenkovic, Matthew P Scott. Science 2007
10
Hedgehog signalling in the mouse requires intraflagellar transport proteins.
Danwei Huangfu, Aimin Liu, Andrew S Rakeman, Noel S Murcia, Lee Niswander, Kathryn V Anderson. Nature 2003
Danwei Huangfu, Aimin Liu, Andrew S Rakeman, Noel S Murcia, Lee Niswander, Kathryn V Anderson. Nature 2003
10
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
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
10
Holoprosencephaly in human embryos: epidemiologic studies of 150 cases.
E Matsunaga, K Shiota. Teratology 1977
E Matsunaga, K Shiota. Teratology 1977
10
Truncating loss-of-function mutations of DISP1 contribute to holoprosencephaly-like microform features in humans.
Erich Roessler, Yong Ma, Maia V Ouspenskaia, Felicitas Lacbawan, Claude Bendavid, Christèle Dubourg, Philip A Beachy, Maximilian Muenke. Hum Genet 2009
Erich Roessler, Yong Ma, Maia V Ouspenskaia, Felicitas Lacbawan, Claude Bendavid, Christèle Dubourg, Philip A Beachy, Maximilian Muenke. Hum Genet 2009
19
The primary cilium: a signalling centre during vertebrate development.
Sarah C Goetz, Kathryn V Anderson. Nat Rev Genet 2010
Sarah C Goetz, Kathryn V Anderson. Nat Rev Genet 2010
9
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
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
15
Vertebrate Smoothened functions at the primary cilium.
Kevin C Corbit, Pia Aanstad, Veena Singla, Andrew R Norman, Didier Y R Stainier, Jeremy F Reiter. Nature 2005
Kevin C Corbit, Pia Aanstad, Veena Singla, Andrew R Norman, Didier Y R Stainier, Jeremy F Reiter. Nature 2005
9
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
Gyu-Un Bae, Sabina Domené, Erich Roessler, Karen Schachter, Jong-Sun Kang, Maximilian Muenke, Robert S Krauss. Am J Hum Genet 2011
9
NOTCH, a new signaling pathway implicated in holoprosencephaly.
Valérie Dupé, Lucie Rochard, Sandra Mercier, Yann Le Pétillon, Isabelle Gicquel, Claude Bendavid, Georges Bourrouillou, Usha Kini, Christel Thauvin-Robinet, Timothy P Bohan,[...]. Hum Mol Genet 2011
Valérie Dupé, Lucie Rochard, Sandra Mercier, Yann Le Pétillon, Isabelle Gicquel, Claude Bendavid, Georges Bourrouillou, Usha Kini, Christel Thauvin-Robinet, Timothy P Bohan,[...]. Hum Mol Genet 2011
26
Cholesterol activates the G-protein coupled receptor Smoothened to promote Hedgehog signaling.
Giovanni Luchetti, Ria Sircar, Jennifer H Kong, Sigrid Nachtergaele, Andreas Sagner, Eamon Fx Byrne, Douglas F Covey, Christian Siebold, Rajat Rohatgi. Elife 2016
Giovanni Luchetti, Ria Sircar, Jennifer H Kong, Sigrid Nachtergaele, Andreas Sagner, Eamon Fx Byrne, Douglas F Covey, Christian Siebold, Rajat Rohatgi. Elife 2016
9
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
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
9
Multiple hits during early embryonic development: digenic diseases and holoprosencephaly.
Jeffrey E Ming, Maximilian Muenke. Am J Hum Genet 2002
Jeffrey E Ming, Maximilian Muenke. Am J Hum Genet 2002
9
Holoprosencephaly in the genomics era.
Erich Roessler, Ping Hu, Maximilian Muenke. Am J Med Genet C Semin Med Genet 2018
Erich Roessler, Ping Hu, Maximilian Muenke. Am J Med Genet C Semin Med Genet 2018
34
Mechanisms and functions of Hedgehog signalling across the metazoa.
Philip W Ingham, Yoshiro Nakano, Claudia Seger. Nat Rev Genet 2011
Philip W Ingham, Yoshiro Nakano, Claudia Seger. Nat Rev Genet 2011
8
Fetal ethanol exposure activates protein kinase A and impairs Shh expression in prechordal mesendoderm cells in the pathogenesis of holoprosencephaly.
Kazushi Aoto, Yayoi Shikata, Daisuke Higashiyama, Kohei Shiota, Jun Motoyama. Birth Defects Res A Clin Mol Teratol 2008
Kazushi Aoto, Yayoi Shikata, Daisuke Higashiyama, Kohei Shiota, Jun Motoyama. Birth Defects Res A Clin Mol Teratol 2008
10
LRP2 is an auxiliary SHH receptor required to condition the forebrain ventral midline for inductive signals.
Annabel Christ, Anna Christa, Esther Kur, Oleg Lioubinski, Sebastian Bachmann, Thomas E Willnow, Annette Hammes. Dev Cell 2012
Annabel Christ, Anna Christa, Esther Kur, Oleg Lioubinski, Sebastian Bachmann, Thomas E Willnow, Annette Hammes. Dev Cell 2012
11
Pattern formation in the vertebrate neural tube: a sonic hedgehog morphogen-regulated transcriptional network.
Eric Dessaud, Andrew P McMahon, James Briscoe. Development 2008
Eric Dessaud, Andrew P McMahon, James Briscoe. Development 2008
8
Human homolog of patched, a candidate gene for the basal cell nevus syndrome.
R L Johnson, A L Rothman, J Xie, L V Goodrich, J W Bare, J M Bonifas, A G Quinn, R M Myers, D R Cox, E H Epstein,[...]. Science 1996
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8
Activating Smoothened mutations in sporadic basal-cell carcinoma.
J Xie, M Murone, S M Luoh, A Ryan, Q Gu, C Zhang, J M Bonifas, C W Lam, M Hynes, A Goddard,[...]. Nature 1998
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8
Gli2 gene-environment interactions contribute to the etiological complexity of holoprosencephaly: evidence from a mouse model.
Galen W Heyne, Joshua L Everson, Lydia J Ansen-Wilson, Cal G Melberg, Dustin M Fink, Kia F Parins, Padydeh Doroodchi, Caden M Ulschmid, Robert J Lipinski. Dis Model Mech 2016
Galen W Heyne, Joshua L Everson, Lydia J Ansen-Wilson, Cal G Melberg, Dustin M Fink, Kia F Parins, Padydeh Doroodchi, Caden M Ulschmid, Robert J Lipinski. Dis Model Mech 2016
27
Effects of oncogenic mutations in Smoothened and Patched can be reversed by cyclopamine.
J Taipale, J K Chen, M K Cooper, B Wang, R K Mann, L Milenkovic, M P Scott, P A Beachy. Nature 2000
J Taipale, J K Chen, M K Cooper, B Wang, R K Mann, L Milenkovic, M P Scott, P A Beachy. Nature 2000
8
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
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
11
Missense substitutions in the GAS1 protein present in holoprosencephaly patients reduce the affinity for its ligand, SHH.
Daniel E Pineda-Alvarez, Erich Roessler, Ping Hu, Kshitij Srivastava, Benjamin D Solomon, C Evan Siple, Chen-Ming Fan, Maximilian Muenke. Hum Genet 2012
Daniel E Pineda-Alvarez, Erich Roessler, Ping Hu, Kshitij Srivastava, Benjamin D Solomon, C Evan Siple, Chen-Ming Fan, Maximilian Muenke. Hum Genet 2012
19
Complex mode of inheritance in holoprosencephaly revealed by whole exome sequencing.
C Mouden, C Dubourg, W Carré, S Rose, C Quelin, L Akloul, H Hamdi-Rozé, G Viot, H Salhi, P Darnault,[...]. Clin Genet 2016
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29
A Hypomorphic Allele in the FGF8 Gene Contributes to Holoprosencephaly and Is Allelic to Gonadotropin-Releasing Hormone Deficiency in Humans.
R F Arauz, B D Solomon, D E Pineda-Alvarez, A L Gropman, J A Parsons, E Roessler, M Muenke. Mol Syndromol 2010
R F Arauz, B D Solomon, D E Pineda-Alvarez, A L Gropman, J A Parsons, E Roessler, M Muenke. Mol Syndromol 2010
20
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.