CoCites: A citation-based method for searching scientific literature

A novel mutation in the DNA-binding domain of MAF at 16q23.1 associated with autosomal dominant "cerulean cataract" in an Indian family.

Vanita Vanita, Daljit Singh, Peter N Robinson, Karl Sperling, Jai Rup Singh. Am J Med Genet A 2006
Times Cited: 70

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

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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

202

Autosomal dominant congenital cataract associated with a missense mutation in the human alpha crystallin gene CRYAA.
M Litt, P Kramer, D M LaMorticella, W Murphey, E W Lovrien, R G Weleber. Hum Mol Genet 1998

377

Autosomal dominant cerulean cataract is associated with a chain termination mutation in the human beta-crystallin gene CRYBB2.
M Litt, R Carrero-Valenzuela, D M LaMorticella, D W Schultz, T N Mitchell, P Kramer, I H Maumenee. Hum Mol Genet 1997

219

Novel MAF mutation in a family with congenital cataract-microcornea syndrome.
Lars Hansen, Hans Eiberg, Thomas Rosenberg. Mol Vis 2007

Mutant DNA-binding domain of HSF4 is associated with autosomal dominant lamellar and Marner cataract.
Lei Bu, Yiping Jin, Yuefeng Shi, Renyuan Chu, Airong Ban, Hans Eiberg, Lisa Andres, Haisong Jiang, Guangyong Zheng, Meiqian Qian,[...]. Nat Genet 2002

210

A novel homeobox gene PITX3 is mutated in families with autosomal-dominant cataracts and ASMD.
E V Semina, R E Ferrell, H A Mintz-Hittner, P Bitoun, W L Alward, R S Reiter, C Funkhauser, S Daack-Hirsch, J C Murray. Nat Genet 1998

295

Genetic heterogeneity of the Coppock-like cataract: a mutation in CRYBB2 on chromosome 22q11.2.
D Gill, R Klose, F L Munier, M McFadden, M Priston, G Billingsley, N Ducrey, D F Schorderet, E Héon. Invest Ophthalmol Vis Sci 2000

124

A juvenile-onset, progressive cataract locus on chromosome 3q21-q22 is associated with a missense mutation in the beaded filament structural protein-2.
Y P Conley, D Erturk, A Keverline, T S Mah, A Keravala, L R Barnes, A Bruchis, J F Hess, P G FitzGerald, D E Weeks,[...]. Am J Hum Genet 2000

127

Missense mutations in MIP underlie autosomal dominant 'polymorphic' and lamellar cataracts linked to 12q.
V Berry, P Francis, S Kaushal, A Moore, S Bhattacharya. Nat Genet 2000

227

The gamma-crystallins and human cataracts: a puzzle made clearer.
E Héon, M Priston, D F Schorderet, G D Billingsley, P O Girard, N Lubsen, F L Munier. Am J Hum Genet 1999

228

A missense mutation in the human connexin50 gene (GJA8) underlies autosomal dominant "zonular pulverulent" cataract, on chromosome 1q.
A Shiels, D Mackay, A Ionides, V Berry, A Moore, S Bhattacharya. Am J Hum Genet 1998

292

Autosomal-dominant congenital cataract associated with a deletion mutation in the human beaded filament protein gene BFSP2.
P M Jakobs, J F Hess, P G FitzGerald, P Kramer, R G Weleber, M Litt. Am J Hum Genet 2000

138

Genetic heterogeneity in microcornea-cataract: five novel mutations in CRYAA, CRYGD, and GJA8.
Lars Hansen, Wenliang Yao, Hans Eiberg, Klaus Wilbrandt Kjaer, Kirsten Baggesen, J Fielding Hejtmancik, Thomas Rosenberg. Invest Ophthalmol Vis Sci 2007

114

Gamma-D crystallin gene (CRYGD) mutation causes autosomal dominant congenital cerulean cataracts.
E Nandrot, C Slingsby, A Basak, M Cherif-Chefchaouni, B Benazzouz, Y Hajaji, S Boutayeb, O Gribouval, L Arbogast, A Berraho,[...]. J Med Genet 2003

Alpha-B crystallin gene (CRYAB) mutation causes dominant congenital posterior polar cataract in humans.
V Berry, P Francis, M A Reddy, D Collyer, E Vithana, I MacKay, G Dawson, A H Carey, A Moore, S S Bhattacharya,[...]. Am J Hum Genet 2001

193

Connexin46 mutations in autosomal dominant congenital cataract.
D Mackay, A Ionides, Z Kibar, G Rouleau, V Berry, A Moore, A Shiels, S Bhattacharya. Am J Hum Genet 1999

232

Novel mutations in GJA8 associated with autosomal dominant congenital cataract and microcornea.
Ramachandran Ramya Devi, Perumalsamy Vijayalakshmi. Mol Vis 2006

Congenital cataracts and their molecular genetics.
J Fielding Hejtmancik. Semin Cell Dev Biol 2008

260

Comprehensive mutational screening in a cohort of Danish families with hereditary congenital cataract.
Lars Hansen, Annemette Mikkelsen, Peter Nürnberg, Gudrun Nürnberg, Iram Anjum, Hans Eiberg, Thomas Rosenberg. Invest Ophthalmol Vis Sci 2009

CRYBB1 mutation associated with congenital cataract and microcornea.
Colin E Willoughby, Ayad Shafiq, Walter Ferrini, Louie Loh Yen Chan, Gail Billingsley, Megan Priston, Calvin Mok, Arvind Chandna, Stephen Kaye, Elise Héon. Mol Vis 2005

A nonsense mutation in CRYBB1 associated with autosomal dominant cataract linked to human chromosome 22q.
Donna S Mackay, Olivera B Boskovska, Harry L S Knopf, Kirsten J Lampi, Alan Shiels. Am J Hum Genet 2002

107

A unique form of autosomal dominant cataract explained by gene conversion between beta-crystallin B2 and its pseudogene.
Vanita, V Sarhadi, A Reis, M Jung, D Singh, K Sperling, J R Singh, J Bürger. J Med Genet 2001

Mutations in betaB3-crystallin associated with autosomal recessive cataract in two Pakistani families.
S Amer Riazuddin, Afshan Yasmeen, Wenliang Yao, Yuri V Sergeev, Qingjiong Zhang, Fareeha Zulfiqar, Assad Riaz, Sheikh Riazuddin, J Fielding Hejtmancik. Invest Ophthalmol Vis Sci 2005

Gamma-S crystallin gene (CRYGS) mutation causes dominant progressive cortical cataract in humans.
H Sun, Z Ma, Y Li, B Liu, Z Li, X Ding, Y Gao, W Ma, X Tang, X Li,[...]. J Med Genet 2005

Molecular genetic basis of inherited cataract and associated phenotypes.
M Ashwin Reddy, Peter J Francis, Vanita Berry, Shomi S Bhattacharya, Anthony T Moore. Surv Ophthalmol 2004

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Cell death triggered by a novel mutation in the alphaA-crystallin gene underlies autosomal dominant cataract linked to chromosome 21q.
Donna S Mackay, Usha P Andley, Alan Shiels. Eur J Hum Genet 2003

150

A new betaA1-crystallin splice junction mutation in autosomal dominant cataract.
J B Bateman, D D Geyer, P Flodman, M Johannes, J Sikela, N Walter, A T Moreira, K Clancy, M A Spence. Invest Ophthalmol Vis Sci 2000

CRYBA4, a novel human cataract gene, is also involved in microphthalmia.
Gail Billingsley, Sathiyavedu T Santhiya, Andrew D Paterson, Koji Ogata, Shoshana Wodak, S Mohsen Hosseini, Shyam Manohar Manisastry, Perumalsamy Vijayalakshmi, Pudhiya Mundyat Gopinath, Jochen Graw,[...]. Am J Hum Genet 2006

Cat-Map: putting cataract on the map.
Alan Shiels, Thomas M Bennett, J Fielding Hejtmancik. Mol Vis 2010

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Clinical description and genome wide linkage study of Y-sutural cataract and myopia in a Chinese family.
Qingjiong Zhang, Xiangming Guo, Xueshan Xiao, Junhui Yi, Xiaoyun Jia, J Fielding Hejtmancik. Mol Vis 2004

Aetiology of congenital and paediatric cataract in an Australian population.
M G Wirth, I M Russell-Eggitt, J E Craig, J E Elder, D A Mackey. Br J Ophthalmol 2002

120

Further evidence of autosomal dominant congenital zonular pulverulent cataracts linked to 13q11 (CZP3) and a novel mutation in connexin 46 (GJA3).
M I Rees, P Watts, I Fenton, A Clarke, R G Snell, M J Owen, J Gray. Hum Genet 2000

Autosomal dominant zonular cataract with sutural opacities is associated with a splice mutation in the betaA3/A1-crystallin gene.
C Kannabiran, P K Rogan, L Olmos, S Basti, G N Rao, M Kaiser-Kupfer, J F Hejtmancik. Mol Vis 1998

Regulation of mouse lens fiber cell development and differentiation by the Maf gene.
B Z Ring, S P Cordes, P A Overbeek, G S Barsh. Development 2000

186

A nonsense mutation (W9X) in CRYAA causes autosomal recessive cataract in an inbred Jewish Persian family.
E Pras, M Frydman, E Levy-Nissenbaum, T Bakhan, J Raz, E I Assia, B Goldman, E Pras. Invest Ophthalmol Vis Sci 2000

152

Mutations in the human forkhead transcription factor FOXE3 associated with anterior segment ocular dysgenesis and cataracts.
E V Semina, I Brownell, H A Mintz-Hittner, J C Murray, M Jamrich. Hum Mol Genet 2001

149

Easy calculations of lod scores and genetic risks on small computers.
G M Lathrop, J M Lalouel. Am J Hum Genet 1984

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A missense mutation in the gammaD crystallin gene (CRYGD) associated with autosomal dominant "coral-like" cataract linked to chromosome 2q.
Donna S Mackay, Usha P Andley, Alan Shiels. Mol Vis 2004

Mutation analysis of congenital cataracts in Indian families: identification of SNPS and a new causative allele in CRYBB2 gene.
Sathiyavedu T Santhiya, Shyam Manohar Manisastry, Deepika Rawlley, Raghunathan Malathi, Sharmila Anishetty, Puthiya M Gopinath, Perumalsamy Vijayalakshmi, Perumalsamy Namperumalsamy, Jerzy Adamski, Jochen Graw. Invest Ophthalmol Vis Sci 2004

A novel missense mutation in the gene for gap-junction protein alpha3 (GJA3) associated with autosomal dominant "nuclear punctate" cataracts linked to chromosome 13q.
Thomas M Bennett, Donna S Mackay, Harry L S Knopf, Alan Shiels. Mol Vis 2004

Progressive polymorphic congenital cataract caused by a CRYBB2 mutation in a Chinese family.
Ke Yao, Xiajing Tang, Xingchao Shentu, Kaijun Wang, Huiying Rao, Kun Xia. Mol Vis 2005

Novel mutations in GJA3 associated with autosomal dominant congenital cataract in the Indian population.
Ramachandran Ramya Devi, Chandrashekar Reena, Perumalsamy Vijayalakshmi. Mol Vis 2005

Pulverulent cataract with variably associated microcornea and iris coloboma in a MAF mutation family.
R V Jamieson, F Munier, A Balmer, N Farrar, R Perveen, G C M Black. Br J Ophthalmol 2003

Congenital cataract and macular hypoplasia in humans associated with a de novo mutation in CRYAA and compound heterozygous mutations in P.
Jochen Graw, Norman Klopp, Thomas Illig, Markus N Preising, Birgit Lorenz. Graefes Arch Clin Exp Ophthalmol 2006

Novel mutations in the gamma-crystallin genes cause autosomal dominant congenital cataracts.
S T Santhiya, M Shyam Manohar, D Rawlley, P Vijayalakshmi, P Namperumalsamy, P M Gopinath, J Löster, J Graw. J Med Genet 2002

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A nonsense mutation in the glucosaminyl (N-acetyl) transferase 2 gene (GCNT2): association with autosomal recessive congenital cataracts.
Eran Pras, Judith Raz, Vered Yahalom, Moshe Frydman, Hanna J Garzozi, Elon Pras, J Fielding Hejtmancik. Invest Ophthalmol Vis Sci 2004

Identification of a novel missense mutation of MAF in a Japanese family with congenital cataract by whole exome sequencing: a clinical report and review of literature.
Yoko Narumi, Sachiko Nishina, Motoharu Tokimitsu, Yoko Aoki, Rika Kosaki, Keiko Wakui, Noriyuki Azuma, Toshinori Murata, Fumio Takada, Yoshimitsu Fukushima,[...]. Am J Med Genet A 2014

Investigation of crystallin genes in familial cataract, and report of two disease associated mutations.
K P Burdon, M G Wirth, D A Mackey, I M Russell-Eggitt, J E Craig, J E Elder, J L Dickinson, M M Sale. Br J Ophthalmol 2004

A missense mutation in the LIM2 gene is associated with autosomal recessive presenile cataract in an inbred Iraqi Jewish family.
Eran Pras, Etgar Levy-Nissenbaum, Tangiz Bakhan, Hadas Lahat, Ehud Assia, Noa Geffen-Carmi, Moshe Frydman, Boleslaw Goldman, Elon Pras. Am J Hum Genet 2002

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A novel GJA8 mutation in an Iranian family with progressive autosomal dominant congenital nuclear cataract.
C E Willoughby, Sara Arab, R Gandhi, S Zeinali, Seddigheh Arab, D Luk, G Billingsley, F L Munier, E Héon. J Med Genet 2003

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.

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