A citation-based method for searching scientific literature

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
Times Cited: 112







List of co-cited articles
1193 articles co-cited >1



Times Cited
  Times     Co-cited
Similarity


Human microphthalmia associated with mutations in the retinal homeobox gene CHX10.
E Ferda Percin, L A Ploder, J J Yu, K Arici, D J Horsford, A Rutherford, B Bapat, D W Cox, A M Duncan, V I Kalnins,[...]. Nat Genet 2000
209
26

Ocular coloboma: a reassessment in the age of molecular neuroscience.
C Y Gregory-Evans, M J Williams, S Halford, K Gregory-Evans. J Med Genet 2004
151
25

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
856
24

Heterozygous mutations of OTX2 cause severe ocular malformations.
Nicola K Ragge, Alison G Brown, Charlotte M Poloschek, Birgit Lorenz, R Alex Henderson, Michael P Clarke, Isabelle Russell-Eggitt, Alistair Fielder, Dianne Gerrelli, Juan Pedro Martinez-Barbera,[...]. Am J Hum Genet 2005
216
24

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
23

Mutations in the human RAX homeobox gene in a patient with anophthalmia and sclerocornea.
Vera A Voronina, Elena A Kozhemyakina, Christina M O'Kernick, Natan D Kahn, Sharon L Wenger, John V Linberg, Adele S Schneider, Peter H Mathers. Hum Mol Genet 2004
149
22

Mutations in SOX2 cause anophthalmia.
Judy Fantes, Nicola K Ragge, Sally-Ann Lynch, Niolette I McGill, J Richard O Collin, Patricia N Howard-Peebles, Caroline Hayward, Anthony J Vivian, Kathy Williamson, Veronica van Heyningen,[...]. Nat Genet 2003
381
19

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
263
19

Midline signalling is required for Pax gene regulation and patterning of the eyes.
R Macdonald, K A Barth, Q Xu, N Holder, I Mikkola, S W Wilson. Development 1995
363
19

Mutations in BMP4 cause eye, brain, and digit developmental anomalies: overlap between the BMP4 and hedgehog signaling pathways.
Preeti Bakrania, Maria Efthymiou, Johannes C Klein, Alison Salt, David J Bunyan, Alex Wyatt, Chris P Ponting, Angela Martin, Steven Williams, Victoria Lindley,[...]. Am J Hum Genet 2008
185
19


National study of microphthalmia, anophthalmia, and coloboma (MAC) in Scotland: investigation of genetic aetiology.
D Morrison, D FitzPatrick, I Hanson, K Williamson, V van Heyningen, B Fleck, I Jones, J Chalmers, H Campbell. J Med Genet 2002
181
18

Mutations of the PAX6 gene detected in patients with a variety of optic-nerve malformations.
Noriyuki Azuma, Yuki Yamaguchi, Hiroshi Handa, Keiko Tadokoro, Atsuko Asaka, Eriko Kawase, Masao Yamada. Am J Hum Genet 2003
174
18

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
285
17

GDF6, a novel locus for a spectrum of ocular developmental anomalies.
Mika Asai-Coakwell, Curtis R French, Karyn M Berry, Ming Ye, Ron Koss, Martin Somerville, Rosemary Mueller, Veronica van Heyningen, Andrew J Waskiewicz, Ordan J Lehmann. Am J Hum Genet 2007
80
21

Mutation of the PAX2 gene in a family with optic nerve colobomas, renal anomalies and vesicoureteral reflux.
P Sanyanusin, L A Schimmenti, L A McNoe, T A Ward, M E Pierpont, M J Sullivan, W B Dobyns, M R Eccles. Nat Genet 1995
500
16

Hedgehog signalling maintains the optic stalk-retinal interface through the regulation of Vax gene activity.
Masaya Take-uchi, Jonathan D W Clarke, Stephen W Wilson. Development 2003
123
16

Pax2 contributes to inner ear patterning and optic nerve trajectory.
M Torres, E Gómez-Pardo, P Gruss. Development 1996
450
16

Vax2 inactivation in mouse determines alteration of the eye dorsal-ventral axis, misrouting of the optic fibres and eye coloboma.
Anna Maria Barbieri, Vania Broccoli, Paola Bovolenta, Giovanna Alfano, Anna Marchitiello, Cristina Mocchetti, Luca Crippa, Alessandro Bulfone, Valeria Marigo, Andrea Ballabio,[...]. Development 2002
104
16

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
492
15

Patterning activities of vertebrate hedgehog proteins in the developing eye and brain.
S C Ekker, A R Ungar, P Greenstein, D P von Kessler, J A Porter, R T Moon, P A Beachy. Curr Biol 1995
473
15

Proper patterning of the optic fissure requires the sequential activity of BMP7 and SHH.
Julian Morcillo, Juan Ramon Martínez-Morales, Françoise Trousse, Yasmin Fermin, Jane C Sowden, Paola Bovolenta. Development 2006
104
15

Mutation of the bone morphogenetic protein GDF3 causes ocular and skeletal anomalies.
Ming Ye, Karyn M Berry-Wynne, Mika Asai-Coakwell, Periasamy Sundaresan, Tim Footz, Curtis R French, Marc Abitbol, Valerie C Fleisch, Nathan Corbett, W Ted Allison,[...]. Hum Mol Genet 2010
99
15

The genetic architecture of microphthalmia, anophthalmia and coloboma.
Kathleen A Williamson, David R FitzPatrick. Eur J Med Genet 2014
141
15


Vax genes ventralize the embryonic eye.
Stina H Mui, Jin Woo Kim, Greg Lemke, Stefano Bertuzzi. Genes Dev 2005
98
14

Domain disruption and mutation of the bZIP transcription factor, MAF, associated with cataract, ocular anterior segment dysgenesis and coloboma.
Robyn V Jamieson, Rahat Perveen, Bronwyn Kerr, Martin Carette, Jill Yardley, Elise Heon, M Gabriela Wirth, Veronica van Heyningen, Di Donnai, Francis Munier,[...]. Hum Mol Genet 2002
198
13

SOX2 anophthalmia syndrome.
Nicola K Ragge, Birgit Lorenz, Adele Schneider, Kate Bushby, Luisa de Sanctis, Ugo de Sanctis, Alison Salt, J Richard O Collin, Anthony J Vivian, Samantha L Free,[...]. Am J Med Genet A 2005
166
13

CHX10 mutations cause non-syndromic microphthalmia/ anophthalmia in Arab and Jewish kindreds.
Udy Bar-Yosef, Izzeldin Abuelaish, Tamar Harel, Neta Hendler, Rivka Ofir, Ohad S Birk. Hum Genet 2004
54
24

Mutations in a new member of the chromodomain gene family cause CHARGE syndrome.
Lisenka E L M Vissers, Conny M A van Ravenswaaij, Ronald Admiraal, Jane A Hurst, Bert B A de Vries, Irene M Janssen, Walter A van der Vliet, Erik H L P G Huys, Pieter J de Jong, Ben C J Hamel,[...]. Nat Genet 2004
779
13

Uveal coloboma: clinical and basic science update.
Lan Chang, Delphine Blain, Stefano Bertuzzi, Brian P Brooks. Curr Opin Ophthalmol 2006
86
15

Incomplete penetrance and phenotypic variability characterize Gdf6-attributable oculo-skeletal phenotypes.
Mika Asai-Coakwell, Curtis R French, Ming Ye, Kamal Garcha, Karin Bigot, Anoja G Perera, Karen Staehling-Hampton, Silvina C Mema, Bhaskar Chanda, Arcady Mushegian,[...]. Hum Mol Genet 2009
75
16

Sonic hedgehog mutations are an uncommon cause of developmental eye anomalies.
Preeti Bakrania, Sibel A Ugur Iseri, Alexander W Wyatt, Dave J Bunyan, Wayne W K Lam, Alison Salt, Jacqueline Ramsay, David O Robinson, Nicola K Ragge. Am J Med Genet A 2010
24
50

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
11

Oculofaciocardiodental and Lenz microphthalmia syndromes result from distinct classes of mutations in BCOR.
David Ng, Nalin Thakker, Connie M Corcoran, Dian Donnai, Rahat Perveen, Adele Schneider, Donald W Hadley, Cynthia Tifft, Liqun Zhang, Andrew O M Wilkie,[...]. Nat Genet 2004
215
11

Novel heterozygous OTX2 mutations and whole gene deletions in anophthalmia, microphthalmia and coloboma.
Alexander Wyatt, Preeti Bakrania, David J Bunyan, Robert J Osborne, John A Crolla, Alison Salt, Carmen Ayuso, Ruth Newbury-Ecob, Y Abou-Rayyah, J Richard O Collin,[...]. Hum Mutat 2008
78
14

Eye morphogenesis and patterning of the optic vesicle.
Sabine Fuhrmann. Curr Top Dev Biol 2010
223
11

ABCB6 mutations cause ocular coloboma.
Lejin Wang, Fei He, Juan Bu, Yuanli Zhen, Xiaoqui Liu, Wei Du, Jiamei Dong, Jeffrey D Cooney, Sushil Kumar Dubey, Yi Shi,[...]. Am J Hum Genet 2012
54
20

Heterozygous loss-of-function mutations in YAP1 cause both isolated and syndromic optic fissure closure defects.
Kathleen A Williamson, Joe Rainger, James A B Floyd, Morad Ansari, Alison Meynert, Kishan V Aldridge, Jacqueline K Rainger, Carl A Anderson, Anthony T Moore, Matthew E Hurles,[...]. Am J Hum Genet 2014
65
16

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
238
10

The Rx homeobox gene is essential for vertebrate eye development.
P H Mathers, A Grinberg, K A Mahon, M Jamrich. Nature 1997
541
10

A homeobox gene, vax2, controls the patterning of the eye dorsoventral axis.
A M Barbieri, G Lupo, A Bulfone, M Andreazzoli, M Mariani, F Fougerousse, G G Consalez, G Borsani, J S Beckmann, G Barsacchi,[...]. Proc Natl Acad Sci U S A 1999
122
10

Early eye development in vertebrates.
R L Chow, R A Lang. Annu Rev Cell Dev Biol 2001
451
10

Spatial specification of mammalian eye territories by reciprocal transcriptional repression of Pax2 and Pax6.
M Schwarz, F Cecconi, G Bernier, N Andrejewski, B Kammandel, M Wagner, P Gruss. Development 2000
199
10



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
369
10


ALDH1A3 mutations cause recessive anophthalmia and microphthalmia.
Lucas Fares-Taie, Sylvie Gerber, Nicolas Chassaing, Jill Clayton-Smith, Sylvain Hanein, Eduardo Silva, Margaux Serey, Valérie Serre, Xavier Gérard, Clarisse Baumann,[...]. Am J Hum Genet 2013
67
14

Mutations of the human homolog of Drosophila patched in the nevoid basal cell carcinoma syndrome.
H Hahn, C Wicking, P G Zaphiropoulous, M R Gailani, S Shanley, A Chidambaram, I Vorechovsky, E Holmberg, A B Unden, S Gillies,[...]. Cell 1996
9


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.