Linda M Reis, Ayesha Khan, Ariana Kariminejad, Farhad Ebadi, Rebecca C Tyler, Elena V Semina. Mol Vis 2011
Times Cited: 20
Times Cited: 20
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
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Use of genome-wide SNP homozygosity mapping in small pedigrees to identify new mutations in VSX2 causing recessive microphthalmia and a semidominant inner retinal dystrophy.
Sibel Ugur Iseri, Alexander W Wyatt, Gudrun Nürnberg, Christian Kluck, Peter Nürnberg, Graham E Holder, Ed Blair, Alison Salt, Nicola K Ragge. Hum Genet 2010
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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
Udy Bar-Yosef, Izzeldin Abuelaish, Tamar Harel, Neta Hendler, Rivka Ofir, Ohad S Birk. Hum Genet 2004
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Mutations in the CHX10 gene in non-syndromic microphthalmia/anophthalmia patients from Qatar.
M Faiyaz-Ul-Haque, S H E Zaidi, M S Al-Mureikhi, I Peltekova, L-C Tsui, A S Teebi. Clin Genet 2007
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Developmental expression of a novel murine homeobox gene (Chx10): evidence for roles in determination of the neuroretina and inner nuclear layer.
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PAX6 gene dosage effect in a family with congenital cataracts, aniridia, anophthalmia and central nervous system defects.
T Glaser, L Jepeal, J G Edwards, S R Young, J Favor, R L Maas. Nat Genet 1994
T Glaser, L Jepeal, J G Edwards, S R Young, J Favor, R L Maas. Nat Genet 1994
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VSX2 in microphthalmia: a novel splice site mutation producing a severe microphthalmia phenotype.
Emma M M Burkitt Wright, Rahat Perveen, Naomi Bowers, Simon Ramsden, Emma McCann, Mary O'Driscoll, I Chris Lloyd, Jill Clayton-Smith, Graeme C M Black. Br J Ophthalmol 2010
Emma M M Burkitt Wright, Rahat Perveen, Naomi Bowers, Simon Ramsden, Emma McCann, Mary O'Driscoll, I Chris Lloyd, Jill Clayton-Smith, Graeme C M Black. Br J Ophthalmol 2010
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Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia.
N Chassaing, A Causse, A Vigouroux, A Delahaye, J-L Alessandri, O Boespflug-Tanguy, O Boute-Benejean, H Dollfus, B Duban-Bedu, B Gilbert-Dussardier,[...]. Clin Genet 2014
N Chassaing, A Causse, A Vigouroux, A Delahaye, J-L Alessandri, O Boespflug-Tanguy, O Boute-Benejean, H Dollfus, B Duban-Bedu, B Gilbert-Dussardier,[...]. Clin Genet 2014
35
Novel SOX2 mutations and genotype-phenotype correlation in anophthalmia and microphthalmia.
Adele Schneider, Tanya Bardakjian, Linda M Reis, Rebecca C Tyler, Elena V Semina. Am J Med Genet A 2009
Adele Schneider, Tanya Bardakjian, Linda M Reis, Rebecca C Tyler, Elena V Semina. Am J Med Genet A 2009
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30
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
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
30
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
Noriyuki Azuma, Yuki Yamaguchi, Hiroshi Handa, Keiko Tadokoro, Atsuko Asaka, Eriko Kawase, Masao Yamada. Am J Hum Genet 2003
30
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
D Morrison, D FitzPatrick, I Hanson, K Williamson, V van Heyningen, B Fleck, I Jones, J Chalmers, H Campbell. J Med Genet 2002
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The genetic architecture of microphthalmia, anophthalmia and coloboma.
Kathleen A Williamson, David R FitzPatrick. Eur J Med Genet 2014
Kathleen A Williamson, David R FitzPatrick. Eur J Med Genet 2014
30
Genetic rescue of cell number in a mouse model of microphthalmia: interactions between Chx10 and G1-phase cell cycle regulators.
Eric S Green, Jennifer L Stubbs, Edward M Levine. Development 2003
Eric S Green, Jennifer L Stubbs, Edward M Levine. Development 2003
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Transdifferentiation of the retina into pigmented cells in ocular retardation mice defines a new function of the homeodomain gene Chx10.
Sheldon Rowan, C-M Amy Chen, Tracy L Young, David E Fisher, Constance L Cepko. Development 2004
Sheldon Rowan, C-M Amy Chen, Tracy L Young, David E Fisher, Constance L Cepko. Development 2004
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Extraocular mesenchyme patterns the optic vesicle during early eye development in the embryonic chick.
S Fuhrmann, E M Levine, T A Reh. Development 2000
S Fuhrmann, E M Levine, T A Reh. Development 2000
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Ocular retardation mouse caused by Chx10 homeobox null allele: impaired retinal progenitor proliferation and bipolar cell differentiation.
M Burmeister, J Novak, M Y Liang, S Basu, L Ploder, N L Hawes, D Vidgen, F Hoover, D Goldman, V I Kalnins,[...]. Nat Genet 1996
M Burmeister, J Novak, M Y Liang, S Basu, L Ploder, N L Hawes, D Vidgen, F Hoover, D Goldman, V I Kalnins,[...]. Nat Genet 1996
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First implication of STRA6 mutations in isolated anophthalmia, microphthalmia, and coloboma: a new dimension to the STRA6 phenotype.
Jillian Casey, Riki Kawaguchi, Maria Morrissey, Hui Sun, Paul McGettigan, Jens E Nielsen, Judith Conroy, Regina Regan, Elaine Kenny, Paul Cormican,[...]. Hum Mutat 2011
Jillian Casey, Riki Kawaguchi, Maria Morrissey, Hui Sun, Paul McGettigan, Jens E Nielsen, Judith Conroy, Regina Regan, Elaine Kenny, Paul Cormican,[...]. Hum Mutat 2011
25
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
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
25
Homozygous nonsense mutation in the FOXE3 gene as a cause of congenital primary aphakia in humans.
Sophie Valleix, Florence Niel, Brigitte Nedelec, Marie-Paule Algros, Claire Schwartz, Bernard Delbosc, Marc Delpech, Bernadette Kantelip. Am J Hum Genet 2006
Sophie Valleix, Florence Niel, Brigitte Nedelec, Marie-Paule Algros, Claire Schwartz, Bernard Delbosc, Marc Delpech, Bernadette Kantelip. Am J Hum Genet 2006
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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
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
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Bone morphogenetic protein 7 (BMP7) mutations are associated with variable ocular, brain, ear, palate, and skeletal anomalies.
Alexander W Wyatt, Robert J Osborne, Helen Stewart, Nicola K Ragge. Hum Mutat 2010
Alexander W Wyatt, Robert J Osborne, Helen Stewart, Nicola K Ragge. Hum Mutat 2010
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FOXE3 plays a significant role in autosomal recessive microphthalmia.
Linda M Reis, Rebecca C Tyler, Adele Schneider, Tanya Bardakjian, Joan M Stoler, Serge B Melancon, Elena V Semina. Am J Med Genet A 2010
Linda M Reis, Rebecca C Tyler, Adele Schneider, Tanya Bardakjian, Joan M Stoler, Serge B Melancon, Elena V Semina. Am J Med Genet A 2010
25
Seeing clearly: the dominant and recessive nature of FOXE3 in eye developmental anomalies.
Sibel Ugur Iseri, Robert J Osborne, Martin Farrall, Alexander William Wyatt, Ghazala Mirza, Gudrun Nürnberg, Christian Kluck, Helen Herbert, Angela Martin, Muhammad Sajid Hussain,[...]. Hum Mutat 2009
Sibel Ugur Iseri, Robert J Osborne, Martin Farrall, Alexander William Wyatt, Ghazala Mirza, Gudrun Nürnberg, Christian Kluck, Helen Herbert, Angela Martin, Muhammad Sajid Hussain,[...]. Hum Mutat 2009
25
Anophthalmos, microphthalmos, and typical coloboma in the United Kingdom: a prospective study of incidence and risk.
Shaheen P Shah, Amy E Taylor, Jane C Sowden, Nicola K Ragge, Isabelle Russell-Eggitt, Jugnoo S Rahi, Clare E Gilbert. Invest Ophthalmol Vis Sci 2011
Shaheen P Shah, Amy E Taylor, Jane C Sowden, Nicola K Ragge, Isabelle Russell-Eggitt, Jugnoo S Rahi, Clare E Gilbert. Invest Ophthalmol Vis Sci 2011
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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
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
25
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
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
25
Clinical and mutation analysis of 51 probands with anophthalmia and/or severe microphthalmia from a single center.
Christina Gerth-Kahlert, Kathleen Williamson, Morad Ansari, Jacqueline K Rainger, Volker Hingst, Theodor Zimmermann, Stefani Tech, Rudolf F Guthoff, Veronica van Heyningen, David R Fitzpatrick. Mol Genet Genomic Med 2013
Christina Gerth-Kahlert, Kathleen Williamson, Morad Ansari, Jacqueline K Rainger, Volker Hingst, Theodor Zimmermann, Stefani Tech, Rudolf F Guthoff, Veronica van Heyningen, David R Fitzpatrick. Mol Genet Genomic Med 2013
25
Mutational screening of CHX10, GDF6, OTX2, RAX and SOX2 genes in 50 unrelated microphthalmia-anophthalmia-coloboma (MAC) spectrum cases.
J Gonzalez-Rodriguez, E L Pelcastre, J L Tovilla-Canales, J E Garcia-Ortiz, M Amato-Almanza, C Villanueva-Mendoza, Z Espinosa-Mattar, J C Zenteno. Br J Ophthalmol 2010
J Gonzalez-Rodriguez, E L Pelcastre, J L Tovilla-Canales, J E Garcia-Ortiz, M Amato-Almanza, C Villanueva-Mendoza, Z Espinosa-Mattar, J C Zenteno. Br J Ophthalmol 2010
25
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
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
25
Inactivation of the zebrafish homologue of Chx10 by antisense oligonucleotides causes eye malformations similar to the ocular retardation phenotype.
S M Barabino, F Spada, F Cotelli, E Boncinelli. Mech Dev 1997
S M Barabino, F Spada, F Cotelli, E Boncinelli. Mech Dev 1997
20
Fate maps of neural crest and mesoderm in the mammalian eye.
Philip J Gage, William Rhoades, Sandra K Prucka, Tord Hjalt. Invest Ophthalmol Vis Sci 2005
Philip J Gage, William Rhoades, Sandra K Prucka, Tord Hjalt. Invest Ophthalmol Vis Sci 2005
20
Chx10 repression of Mitf is required for the maintenance of mammalian neuroretinal identity.
D Jonathan Horsford, Minh-Thanh T Nguyen, Grant C Sellar, Rashmi Kothary, Heinz Arnheiter, Roderick R McInnes. Development 2005
D Jonathan Horsford, Minh-Thanh T Nguyen, Grant C Sellar, Rashmi Kothary, Heinz Arnheiter, Roderick R McInnes. Development 2005
20
Extreme hyperopia is the result of null mutations in MFRP, which encodes a Frizzled-related protein.
Olof H Sundin, Gregory S Leppert, Eduardo D Silva, Jun-Ming Yang, Sharola Dharmaraj, Irene H Maumenee, Luisa Coutinho Santos, Cameron F Parsa, Elias I Traboulsi, Karl W Broman,[...]. Proc Natl Acad Sci U S A 2005
Olof H Sundin, Gregory S Leppert, Eduardo D Silva, Jun-Ming Yang, Sharola Dharmaraj, Irene H Maumenee, Luisa Coutinho Santos, Cameron F Parsa, Elias I Traboulsi, Karl W Broman,[...]. Proc Natl Acad Sci U S A 2005
20
A new autosomal recessive syndrome consisting of posterior microphthalmos, retinitis pigmentosa, foveoschisis, and optic disc drusen is caused by a MFRP gene mutation.
Raul Ayala-Ramirez, Federico Graue-Wiechers, Violeta Robredo, Monica Amato-Almanza, Iliana Horta-Diez, Juan Carlos Zenteno. Mol Vis 2006
Raul Ayala-Ramirez, Federico Graue-Wiechers, Violeta Robredo, Monica Amato-Almanza, Iliana Horta-Diez, Juan Carlos Zenteno. Mol Vis 2006
20
Vsx2 controls eye organogenesis and retinal progenitor identity via homeodomain and non-homeodomain residues required for high affinity DNA binding.
Changjiang Zou, Edward M Levine. PLoS Genet 2012
Changjiang Zou, Edward M Levine. PLoS Genet 2012
20
Identification of novel mutations and sequence variants in the SOX2 and CHX10 genes in patients with anophthalmia/microphthalmia.
Jie Zhou, Femida Kherani, Tanya M Bardakjian, James Katowitz, Nkecha Hughes, Lisa A Schimmenti, Adele Schneider, Terri L Young. Mol Vis 2008
Jie Zhou, Femida Kherani, Tanya M Bardakjian, James Katowitz, Nkecha Hughes, Lisa A Schimmenti, Adele Schneider, Terri L Young. Mol Vis 2008
20
Beta-catenin controls differentiation of the retinal pigment epithelium in the mouse optic cup by regulating Mitf and Otx2 expression.
Peter Westenskow, Stefano Piccolo, Sabine Fuhrmann. Development 2009
Peter Westenskow, Stefano Piccolo, Sabine Fuhrmann. Development 2009
20
Genetic defects of GDF6 in the zebrafish out of sight mutant and in human eye developmental anomalies.
Anneke I den Hollander, Janisha Biyanwila, Peter Kovach, Tanya Bardakjian, Elias I Traboulsi, Nicola K Ragge, Adele Schneider, Jarema Malicki. BMC Genet 2010
Anneke I den Hollander, Janisha Biyanwila, Peter Kovach, Tanya Bardakjian, Elias I Traboulsi, Nicola K Ragge, Adele Schneider, Jarema Malicki. BMC Genet 2010
20
Targeted 'next-generation' sequencing in anophthalmia and microphthalmia patients confirms SOX2, OTX2 and FOXE3 mutations.
Nelson Lopez Jimenez, Jason Flannick, Mani Yahyavi, Jiang Li, Tanya Bardakjian, Leath Tonkin, Adele Schneider, Elliott H Sherr, Anne M Slavotinek. BMC Med Genet 2011
Nelson Lopez Jimenez, Jason Flannick, Mani Yahyavi, Jiang Li, Tanya Bardakjian, Leath Tonkin, Adele Schneider, Elliott H Sherr, Anne M Slavotinek. BMC Med Genet 2011
25
Homozygous null mutation in ODZ3 causes microphthalmia in humans.
Mohammed A Aldahmesh, Jawahir Y Mohammed, Selwa Al-Hazzaa, Fowzan S Alkuraya. Genet Med 2012
Mohammed A Aldahmesh, Jawahir Y Mohammed, Selwa Al-Hazzaa, Fowzan S Alkuraya. Genet Med 2012
20
A homozygous mutation in a consanguineous family consolidates the role of ALDH1A3 in autosomal recessive microphthalmia.
L Roos, M Fang, C Dali, H Jensen, N Christoffersen, B Wu, J Zhang, R Xu, P Harris, X Xu,[...]. Clin Genet 2014
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20
Homozygous FOXE3 mutations cause non-syndromic, bilateral, total sclerocornea, aphakia, microphthalmia and optic disc coloboma.
Manir Ali, Beatriz Buentello-Volante, Martin McKibbin, J Alberto Rocha-Medina, Narcis Fernandez-Fuentes, Wilson Koga-Nakamura, Aruna Ashiq, Kamron Khan, Adam P Booth, Grange Williams,[...]. Mol Vis 2010
Manir Ali, Beatriz Buentello-Volante, Martin McKibbin, J Alberto Rocha-Medina, Narcis Fernandez-Fuentes, Wilson Koga-Nakamura, Aruna Ashiq, Kamron Khan, Adam P Booth, Grange Williams,[...]. Mol Vis 2010
20
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
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
20
Malformations of the brain in two fetuses with a compound heterozygosity for two PAX6 mutations.
Bogna Schmidt-Sidor, Krystyna Szymańska, Kathleen Williamson, Veronica van Heyningen, Tomasz Roszkowski, Teresa Wierzba-Bobrowicz, Jacek Zaremba. Folia Neuropathol 2009
Bogna Schmidt-Sidor, Krystyna Szymańska, Kathleen Williamson, Veronica van Heyningen, Tomasz Roszkowski, Teresa Wierzba-Bobrowicz, Jacek Zaremba. Folia Neuropathol 2009
22
Next generation sequencing identifies mutations in Atonal homolog 7 (ATOH7) in families with global eye developmental defects.
Kamron Khan, Clare V Logan, Martin McKibbin, Eamonn Sheridan, Nursel H Elçioglu, Ozlem Yenice, David A Parry, Narcis Fernandez-Fuentes, Zakia I A Abdelhamed, Ahmed Al-Maskari,[...]. Hum Mol Genet 2012
Kamron Khan, Clare V Logan, Martin McKibbin, Eamonn Sheridan, Nursel H Elçioglu, Ozlem Yenice, David A Parry, Narcis Fernandez-Fuentes, Zakia I A Abdelhamed, Ahmed Al-Maskari,[...]. Hum Mol Genet 2012
20
Three new PAX6 mutations including one causing an unusual ophthalmic phenotype associated with neurodevelopmental abnormalities.
Anouk Dansault, Gabriel David, Claire Schwartz, Carolina Jaliffa, Véronique Vieira, Guillaume de la Houssaye, Karine Bigot, Françise Catin, Laurent Tattu, Catherine Chopin,[...]. Mol Vis 2007
Anouk Dansault, Gabriel David, Claire Schwartz, Carolina Jaliffa, Véronique Vieira, Guillaume de la Houssaye, Karine Bigot, Françise Catin, Laurent Tattu, Catherine Chopin,[...]. Mol Vis 2007
20
Mutations in c12orf57 cause a syndromic form of colobomatous microphthalmia.
Fatema Zahrani, Mohammed A Aldahmesh, Muneera J Alshammari, Selwa A F Al-Hazzaa, Fowzan S Alkuraya. Am J Hum Genet 2013
Fatema Zahrani, Mohammed A Aldahmesh, Muneera J Alshammari, Selwa A F Al-Hazzaa, Fowzan S Alkuraya. Am J Hum Genet 2013
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.