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
Times Cited: 42
Times Cited: 42
Times Cited
Times Co-cited
Similarity
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
54
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
E Roessler, E Belloni, K Gaudenz, P Jay, P Berta, S W Scherer, L C Tsui, M Muenke. Nat Genet 1996
50
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
45
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
Erich Roessler, Felicitas Lacbawan, Christèle Dubourg, Aimee Paulussen, Jos Herbergs, Ute Hehr, Claude Bendavid, Nan Zhou, Maia Ouspenskaia, Sherri Bale,[...]. Hum Mutat 2009
42
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
40
Haploinsufficiency of Six3 fails to activate Sonic hedgehog expression in the ventral forebrain and causes holoprosencephaly.
Xin Geng, Christina Speirs, Oleg Lagutin, Adi Inbal, Wei Liu, Lilianna Solnica-Krezel, Yongsu Jeong, Douglas J Epstein, Guillermo Oliver. Dev Cell 2008
Xin Geng, Christina Speirs, Oleg Lagutin, Adi Inbal, Wei Liu, Lilianna Solnica-Krezel, Yongsu Jeong, Douglas J Epstein, Guillermo Oliver. Dev Cell 2008
40
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
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
40
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
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
40
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
38
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
35
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
35
Holoprosencephaly: clinical, anatomic, and molecular dimensions.
M Michael Cohen. Birth Defects Res A Clin Mol Teratol 2006
M Michael Cohen. Birth Defects Res A Clin Mol Teratol 2006
30
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
30
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
30
Six3 repression of Wnt signaling in the anterior neuroectoderm is essential for vertebrate forebrain development.
Oleg V Lagutin, Changqi C Zhu, Daisuke Kobayashi, Jacek Topczewski, Kenji Shimamura, Luis Puelles, Helen R C Russell, Peter J McKinnon, Lilianna Solnica-Krezel, Guillermo Oliver. Genes Dev 2003
Oleg V Lagutin, Changqi C Zhu, Daisuke Kobayashi, Jacek Topczewski, Kenji Shimamura, Luis Puelles, Helen R C Russell, Peter J McKinnon, Lilianna Solnica-Krezel, Guillermo Oliver. Genes Dev 2003
28
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
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
28
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
Christèle Dubourg, Leïla Lazaro, Laurent Pasquier, Claude Bendavid, Martine Blayau, Franck Le Duff, Marie-Renée Durou, Sylvie Odent, Véronique David. Hum Mutat 2004
28
Six3, a murine homologue of the sine oculis gene, demarcates the most anterior border of the developing neural plate and is expressed during eye development.
G Oliver, A Mailhos, R Wehr, N G Copeland, N A Jenkins, P Gruss. Development 1995
G Oliver, A Mailhos, R Wehr, N G Copeland, N A Jenkins, P Gruss. Development 1995
28
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
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
26
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
26
Holoprosencephaly in human embryos: epidemiologic studies of 150 cases.
E Matsunaga, K Shiota. Teratology 1977
E Matsunaga, K Shiota. Teratology 1977
23
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
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
23
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
Erich Roessler, Alexandre N Ermilov, Dorothy Katherine Grange, Aiqin Wang, Marina Grachtchouk, Andrzej A Dlugosz, Maximilian Muenke. Hum Mol Genet 2005
23
Direct interaction of geminin and Six3 in eye development.
Filippo Del Bene, Kristin Tessmar-Raible, Joachim Wittbrodt. Nature 2004
Filippo Del Bene, Kristin Tessmar-Raible, Joachim Wittbrodt. Nature 2004
21
The morphogen signaling network in forebrain development and holoprosencephaly.
Edwin S Monuki. J Neuropathol Exp Neurol 2007
Edwin S Monuki. J Neuropathol Exp Neurol 2007
21
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
Nicholas Warr, Nicola Powles-Glover, Anna Chappell, Joan Robson, Dominic Norris, Ruth M Arkell. Hum Mol Genet 2008
21
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
21
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
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
21
A novel SIX3 mutation segregates with holoprosencephaly in a large family.
Benjamin D Solomon, Felicitas Lacbawan, Mahim Jain, Sabina Domené, Erich Roessler, Cynthia Moore, William B Dobyns, Maximilian Muenke. Am J Med Genet A 2009
Benjamin D Solomon, Felicitas Lacbawan, Mahim Jain, Sabina Domené, Erich Roessler, Cynthia Moore, William B Dobyns, Maximilian Muenke. Am J Med Genet A 2009
29
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
21
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
Daniel E Pineda-Alvarez, Christèle Dubourg, Véronique David, Erich Roessler, Maximilian Muenke. Am J Med Genet C Semin Med Genet 2010
21
Single median maxillary central incisor: new data and mutation review.
Kênia B El-Jaick, Renata F Fonseca, Miguel A Moreira, Márcia G Ribeiro, Ana M Bolognese, Sânia O Dias, Eliane T Pereira, Eduardo E Castilla, Iêda M Orioli. Birth Defects Res A Clin Mol Teratol 2007
Kênia B El-Jaick, Renata F Fonseca, Miguel A Moreira, Márcia G Ribeiro, Ana M Bolognese, Sânia O Dias, Eliane T Pereira, Eduardo E Castilla, Iêda M Orioli. Birth Defects Res A Clin Mol Teratol 2007
28
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
19
Coordinate regulation and synergistic actions of BMP4, SHH and FGF8 in the rostral prosencephalon regulate morphogenesis of the telencephalic and optic vesicles.
Y Ohkubo, C Chiang, J L R Rubenstein. Neuroscience 2002
Y Ohkubo, C Chiang, J L R Rubenstein. Neuroscience 2002
19
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
19
Dose-dependent functions of Fgf8 in regulating telencephalic patterning centers.
Elaine E Storm, Sonia Garel, Ugo Borello, Jean M Hebert, Salvador Martinez, Susan K McConnell, Gail R Martin, John L R Rubenstein. Development 2006
Elaine E Storm, Sonia Garel, Ugo Borello, Jean M Hebert, Salvador Martinez, Susan K McConnell, Gail R Martin, John L R Rubenstein. Development 2006
19
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
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
16
Six3 functions in anterior neural plate specification by promoting cell proliferation and inhibiting Bmp4 expression.
Gaia Gestri, Matthias Carl, Irene Appolloni, Stephen W Wilson, Giuseppina Barsacchi, Massimiliano Andreazzoli. Development 2005
Gaia Gestri, Matthias Carl, Irene Appolloni, Stephen W Wilson, Giuseppina Barsacchi, Massimiliano Andreazzoli. Development 2005
16
SIX3 mutations with holoprosencephaly.
Lucilene Arilho Ribeiro, Kenia B El-Jaick, Maximilian Muenke, Antonio Richieri-Costa. Am J Med Genet A 2006
Lucilene Arilho Ribeiro, Kenia B El-Jaick, Maximilian Muenke, Antonio Richieri-Costa. Am J Med Genet A 2006
28
Six3 represses nodal activity to establish early brain asymmetry in zebrafish.
Adi Inbal, Seok-Hyung Kim, Jimann Shin, Lilianna Solnica-Krezel. Neuron 2007
Adi Inbal, Seok-Hyung Kim, Jimann Shin, Lilianna Solnica-Krezel. Neuron 2007
16
Molecular characterization of breakpoints in patients with holoprosencephaly and definition of the HPE2 critical region 2p21.
U Schell, J Wienberg, A Köhler, P Bray-Ward, D E Ward, W G Wilson, W P Allen, R R Lebel, J R Sawyer, P L Campbell,[...]. Hum Mol Genet 1996
U Schell, J Wienberg, A Köhler, P Bray-Ward, D E Ward, W G Wilson, W P Allen, R R Lebel, J R Sawyer, P L Campbell,[...]. Hum Mol Genet 1996
16
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
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
16
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
Yong Ma, Alfrun Erkner, Ruoyu Gong, Shenqin Yao, Jussi Taipale, Konrad Basler, Philip A Beachy. Cell 2002
16
16
Novel mutation in sonic hedgehog in non-syndromic colobomatous microphthalmia.
Lisa A Schimmenti, June de la Cruz, Richard Alan Lewis, J D Karkera, Glenda S Manligas, Erich Roessler, Maximilian Muenke. Am J Med Genet A 2003
Lisa A Schimmenti, June de la Cruz, Richard Alan Lewis, J D Karkera, Glenda S Manligas, Erich Roessler, Maximilian Muenke. Am J Med Genet A 2003
16
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
L Nanni, J E Ming, Y Du, R K Hall, M Aldred, A Bankier, M Muenke. Am J Med Genet 2001
16
A dynamic fate map of the forebrain shows how vertebrate eyes form and explains two causes of cyclopia.
Samantha J England, Guy B Blanchard, L Mahadevan, Richard J Adams. Development 2006
Samantha J England, Guy B Blanchard, L Mahadevan, Richard J Adams. Development 2006
16
THE FACE PREDICTS THE BRAIN: DIAGNOSTIC SIGNIFICANCE OF MEDIAN FACIAL ANOMALIES FOR HOLOPROSENCEPHALY (ARHINENCEPHALY).
W DEMYER, W ZEMAN, C G PALMER. Pediatrics 1964
W DEMYER, W ZEMAN, C G PALMER. Pediatrics 1964
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.