A citation-based method for searching scientific literature

Fabiola Ceroni, Domingo Aguilera-Garcia, Nicolas Chassaing, Dorine Arjanne Bax, Fiona Blanco-Kelly, Patricia Ramos, Maria Tarilonte, Cristina Villaverde, Luciana Rodrigues Jacy da Silva, Maria Juliana Ballesta-Martínez, Maria Jose Sanchez-Soler, Richard James Holt, Lisa Cooper-Charles, Jonathan Bruty, Yvonne Wallis, Dominic McMullan, Jonathan Hoffman, David Bunyan, Alison Stewart, Helen Stewart, Katherine Lachlan, Alan Fryer, Victoria McKay, Joëlle Roume, Pascal Dureau, Anand Saggar, Michael Griffiths, Patrick Calvas, Carmen Ayuso, Marta Corton, Nicola K Ragge. Hum Genet 2019
Times Cited: 18







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



Times Cited
  Times     Co-cited
Similarity



Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.
Sue Richards, Nazneen Aziz, Sherri Bale, David Bick, Soma Das, Julie Gastier-Foster, Wayne W Grody, Madhuri Hegde, Elaine Lyon, Elaine Spector,[...]. Genet Med 2015
27

Screening for PAX6 gene mutations is consistent with haploinsufficiency as the main mechanism leading to various ocular defects.
Marie-Claire Vincent, Anne-Laure Pujo, David Olivier, Patrick Calvas. Eur J Hum Genet 2003
73
22


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
194
22

Missense mutation in the alternative splice region of the PAX6 gene in eye anomalies.
N Azuma, Y Yamaguchi, H Handa, M Hayakawa, A Kanai, M Yamada. Am J Hum Genet 1999
108
22

Mutations at the PAX6 locus are found in heterogeneous anterior segment malformations including Peters' anomaly.
I M Hanson, J M Fletcher, T Jordan, A Brown, D Taylor, R J Adams, H H Punnett, V van Heyningen. Nat Genet 1994
400
22

Rare FOXC1 variants in congenital glaucoma: identification of translation regulatory sequences.
Cristina Medina-Trillo, José-Daniel Aroca-Aguilar, Carmen-Dora Méndez-Hernández, Laura Morales, Maite García-Antón, Julián García-Feijoo, Julio Escribano. Eur J Hum Genet 2016
11
36

New mutations in GJA8 expand the phenotype to include total sclerocornea.
A S Ma, J R Grigg, I Prokudin, M Flaherty, B Bennetts, R V Jamieson. Clin Genet 2018
8
50

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
69
22

Improving molecular diagnosis of aniridia and WAGR syndrome using customized targeted array-based CGH.
Fiona Blanco-Kelly, María Palomares, Elena Vallespín, Cristina Villaverde, Rubén Martín-Arenas, Camilo Vélez-Monsalve, Isabel Lorda-Sánchez, Julián Nevado, María José Trujillo-Tiebas, Pablo Lapunzina,[...]. PLoS One 2017
13
30

Novel mutations in PAX6, OTX2 and NDP in anophthalmia, microphthalmia and coloboma.
Brett Deml, Linda M Reis, Emmanuelle Lemyre, Robin D Clark, Ariana Kariminejad, Elena V Semina. Eur J Hum Genet 2016
43
22

Mutations and mechanisms in congenital and age-related cataracts.
Alan Shiels, J Fielding Hejtmancik. Exp Eye Res 2017
78
22

Cloning and characterization of a novel bicoid-related homeobox transcription factor gene, RIEG, involved in Rieger syndrome.
E V Semina, R Reiter, N J Leysens, W L Alward, K W Small, N A Datson, J Siegel-Bartelt, D Bierke-Nelson, P Bitoun, B U Zabel,[...]. Nat Genet 1996
684
16

FOXE3 contributes to Peters anomaly through transcriptional regulation of an autophagy-associated protein termed DNAJB1.
Shahid Y Khan, Shivakumar Vasanth, Firoz Kabir, John D Gottsch, Arif O Khan, Raghothama Chaerkady, Mei-Chong W Lee, Carmen C Leitch, Zhiwei Ma, Julie Laux,[...]. Nat Commun 2016
26
16

Recurrent 17 bp duplication in PITX3 is primarily associated with posterior polar cataract (CPP4).
V Berry, Z Yang, P K F Addison, P J Francis, A Ionides, G Karan, L Jiang, W Lin, J Hu, R Yang,[...]. J Med Genet 2004
51
16

FOXE3 mutations: genotype-phenotype correlations.
J Plaisancié, N K Ragge, H Dollfus, J Kaplan, D Lehalle, C Francannet, G Morin, H Colineaux, P Calvas, N Chassaing. Clin Genet 2018
13
23

Angiopoietin receptor TEK mutations underlie primary congenital glaucoma with variable expressivity.
Tomokazu Souma, Stuart W Tompson, Benjamin R Thomson, Owen M Siggs, Krishnakumar Kizhatil, Shinji Yamaguchi, Liang Feng, Vachiranee Limviphuvadh, Kristina N Whisenhunt, Sebastian Maurer-Stroh,[...]. J Clin Invest 2016
82
16

Lens gap junctions in growth, differentiation, and homeostasis.
Richard T Mathias, Thomas W White, Xiaohua Gong. Physiol Rev 2010
144
16

Novel and recurrent PITX3 mutations in Belgian families with autosomal dominant congenital cataract and anterior segment dysgenesis have similar phenotypic and functional characteristics.
Hannah Verdin, Elena A Sorokina, Françoise Meire, Ingele Casteels, Thomy de Ravel, Elena V Semina, Elfride De Baere. Orphanet J Rare Dis 2014
22
16

PAX6 mutations: genotype-phenotype correlations.
Ioanna Tzoulaki, Ian M S White, Isabel M Hanson. BMC Genet 2005
138
16


PAX6 in sensory development.
Veronica van Heyningen, Kathleen A Williamson. Hum Mol Genet 2002
166
16

Connexin mutants and cataracts.
Eric C Beyer, Lisa Ebihara, Viviana M Berthoud. Front Pharmacol 2013
59
16

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
145
16

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
41
16

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
291
16

Genetic analysis of chromosome 11p13 and the PAX6 gene in a series of 125 cases referred with aniridia.
David O Robinson, Rachel J Howarth, Kathleen A Williamson, Veronica van Heyningen, Sarah J Beal, John A Crolla. Am J Med Genet A 2008
74
16

Null mutations in LTBP2 cause primary congenital glaucoma.
Manir Ali, Martin McKibbin, Adam Booth, David A Parry, Payal Jain, S Amer Riazuddin, J Fielding Hejtmancik, Shaheen N Khan, Sabika Firasat, Mike Shires,[...]. Am J Hum Genet 2009
180
16

Disruption of autoregulatory feedback by a mutation in a remote, ultraconserved PAX6 enhancer causes aniridia.
Shipra Bhatia, Hemant Bengani, Margaret Fish, Alison Brown, Maria Teresa Divizia, Riccardo de Marco, Guiseppe Damante, Robert Grainger, Veronica van Heyningen, Dirk A Kleinjan. Am J Hum Genet 2013
93
16

Mutational analysis of PAX6: 16 novel mutations including 5 missense mutations with a mild aniridia phenotype.
K Grønskov, T Rosenberg, A Sand, K Brøndum-Nielsen. Eur J Hum Genet 1999
71
16

Molecular analysis of patients with aniridia in Russian Federation broadens the spectrum of PAX6 mutations.
T A Vasilyeva, A A Voskresenskaya, B Käsmann-Kellner, O V Khlebnikova, N A Pozdeyeva, G M Bayazutdinova, S I Kutsev, E K Ginter, E V Semina, A V Marakhonov,[...]. Clin Genet 2017
19
16

Missense mutations in the most ancient residues of the PAX6 paired domain underlie a spectrum of human congenital eye malformations.
I Hanson, A Churchill, J Love, R Axton, T Moore, M Clarke, F Meire, V van Heyningen. Hum Mol Genet 1999
138
16

Congenital aniridia variant: minimally abnormal irides with severe limbal stem cell deficiency.
Heather M Skeens, Brian P Brooks, Edward J Holland. Ophthalmology 2011
31
16

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
169
16

The human PAX6 gene is mutated in two patients with aniridia.
T Jordan, I Hanson, D Zaletayev, S Hodgson, J Prosser, A Seawright, N Hastie, V van Heyningen. Nat Genet 1992
433
16

Developmental malformations of the eye: the role of PAX6, SOX2 and OTX2.
A M Hever, K A Williamson, V van Heyningen. Clin Genet 2006
124
16

Genetic Analysis of 'PAX6-Negative' Individuals with Aniridia or Gillespie Syndrome.
Morad Ansari, Jacqueline Rainger, Isabel M Hanson, Kathleen A Williamson, Freddie Sharkey, Louise Harewood, Angela Sandilands, Jill Clayton-Smith, Helene Dollfus, Pierre Bitoun,[...]. PLoS One 2016
28
16

Recurrence of SOX2 anophthalmia syndrome with gonosomal mosaicism in a phenotypically normal mother.
Laurence Faivre, Kathleen A Williamson, Valérie Faber, Nicole Laurent, Marianne Grimaldi, Christel Thauvin-Robinet, Christine Durand, Francine Mugneret, Jean-Bernard Gouyon, Alain Bron,[...]. Am J Med Genet A 2006
44
16

Aniridia.
Melanie Hingorani, Isabel Hanson, Veronica van Heyningen. Eur J Hum Genet 2012
111
16

Genetic investigation of 93 families with microphthalmia or posterior microphthalmos.
N Patel, A O Khan, S Alsahli, G Abdel-Salam, S R Nowilaty, A M Mansour, A Nabil, M Al-Owain, S Sogati, M A Salih,[...]. Clin Genet 2018
21
16

Biochemical Basis for Dominant Inheritance, Variable Penetrance, and Maternal Effects in RBP4 Congenital Eye Disease.
Christopher M Chou, Christine Nelson, Susan A Tarlé, Jonathan T Pribila, Tanya Bardakjian, Sean Woods, Adele Schneider, Tom Glaser. Cell 2015
35
16

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
75
16

Mutations Impairing GSK3-Mediated MAF Phosphorylation Cause Cataract, Deafness, Intellectual Disability, Seizures, and a Down Syndrome-like Facies.
Marcello Niceta, Emilia Stellacci, Karen W Gripp, Giuseppe Zampino, Maria Kousi, Massimiliano Anselmi, Alice Traversa, Andrea Ciolfi, Deborah Stabley, Alessandro Bruselles,[...]. Am J Hum Genet 2015
61
16

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
163
16

Epidemiology of anophthalmia and microphthalmia: Prevalence and patterns in Texas, 1999-2009.
Tiffany M Chambers, A J Agopian, Richard A Lewis, Peter H Langlois, Heather E Danysh, Kari A Weber, Gary M Shaw, Laura E Mitchell, Philip J Lupo. Am J Med Genet A 2018
11
27

Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing.
Alan S Ma, John R Grigg, Gladys Ho, Ivan Prokudin, Elizabeth Farnsworth, Katherine Holman, Anson Cheng, Frank A Billson, Frank Martin, Clare Fraser,[...]. Hum Mutat 2016
72
16

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
63
16

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
372
16

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
61
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.