A citation-based method for searching scientific literature

Hildegard Nikki Hall, Kathleen A Williamson, David R FitzPatrick. Hum Genet 2019
Times Cited: 20







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



Times Cited
  Times     Co-cited
Similarity


Aniridia.
Melanie Hingorani, Isabel Hanson, Veronica van Heyningen. Eur J Hum Genet 2012
118
35

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
435
35

Recessive and Dominant De Novo ITPR1 Mutations Cause Gillespie Syndrome.
Sylvie Gerber, Kamil J Alzayady, Lydie Burglen, Dominique Brémond-Gignac, Valentina Marchesin, Olivier Roche, Marlène Rio, Benoit Funalot, Raphaël Calmon, Alexandra Durr,[...]. Am J Hum Genet 2016
70
35

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
403
30

Assessment of PAX6 alleles in 66 families with aniridia.
A M Bobilev, M E McDougal, W L Taylor, E E Geisert, P A Netland, J D Lauderdale. Clin Genet 2016
22
30

Recurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on DNA-protein interaction.
Kathleen A Williamson, H Nikki Hall, Liusaidh J Owen, Benjamin J Livesey, Isabel M Hanson, G G W Adams, Simon Bodek, Patrick Calvas, Bruce Castle, Michael Clarke,[...]. Genet Med 2020
17
35

Detailed ophthalmologic evaluation of 43 individuals with PAX6 mutations.
Melanie Hingorani, Kathleen A Williamson, Anthony T Moore, Veronica van Heyningen. Invest Ophthalmol Vis Sci 2009
113
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
44
25

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
31
25


PAX6: 25th anniversary and more to learn.
Ales Cvekl, Patrick Callaerts. Exp Eye Res 2017
57
25

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
171
25

Pax6: a multi-level regulator of ocular development.
Ohad Shaham, Yotam Menuchin, Chen Farhy, Ruth Ashery-Padan. Prog Retin Eye Res 2012
127
25

The Spectrum of PAX6 Mutations and Genotype-Phenotype Correlations in the Eye.
Dulce Lima Cunha, Gavin Arno, Marta Corton, Mariya Moosajee. Genes (Basel) 2019
28
25

Implication of non-coding PAX6 mutations in aniridia.
Julie Plaisancié, M Tarilonte, P Ramos, C Jeanton-Scaramouche, V Gaston, H Dollfus, D Aguilera, J Kaplan, L Fares-Taie, F Blanco-Kelly,[...]. Hum Genet 2018
14
28

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
98
20


Positional cloning and characterization of a paired box- and homeobox-containing gene from the aniridia region.
C C Ton, H Hirvonen, H Miwa, M M Weil, P Monaghan, T Jordan, V van Heyningen, N D Hastie, H Meijers-Heijboer, M Drechsler. Cell 1991
725
20

A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect.
Meriel McEntagart, Kathleen A Williamson, Jacqueline K Rainger, Ann Wheeler, Anne Seawright, Elfride De Baere, Hannah Verdin, L Therese Bergendahl, Alan Quigley, Joe Rainger,[...]. Am J Hum Genet 2016
46
20

Early phenotypic features of aniridia-associated keratopathy and association with PAX6 coding mutations.
Neil Lagali, Bogumil Wowra, Fabian Norbert Fries, Lorenz Latta, Kayed Moslemani, Tor Paaske Utheim, Edward Wylegala, Berthold Seitz, Barbara Käsmann-Kellner. Ocul Surf 2020
13
30

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
21

Parental Mosaicism in PAX6 Causes Intra-Familial Variability: Implications for Genetic Counseling of Congenital Aniridia and Microphthalmia.
María Tarilonte, Matías Morín, Patricia Ramos, Marta Galdós, Fiona Blanco-Kelly, Cristina Villaverde, Dolores Rey-Zamora, Gema Rebolleda, Francisco J Muñoz-Negrete, Saoud Tahsin-Swafiri,[...]. Front Genet 2018
14
28

3' deletions cause aniridia by preventing PAX6 gene expression.
J D Lauderdale, J S Wilensky, E R Oliver, D S Walton, T Glaser. Proc Natl Acad Sci U S A 2000
123
20


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
76
20

The genetic architecture of microphthalmia, anophthalmia and coloboma.
Kathleen A Williamson, David R FitzPatrick. Eur J Med Genet 2014
134
20

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
15

PAX6 mutations: genotype-phenotype correlations.
Ioanna Tzoulaki, Ian M S White, Isabel M Hanson. BMC Genet 2005
139
15

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
15

Anophthalmia and microphthalmia.
Amit S Verma, David R Fitzpatrick. Orphanet J Rare Dis 2007
209
15

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
52
15

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
62
15

Genetic Advances in Microphthalmia.
Julie Plaisancie, Patrick Calvas, Nicolas Chassaing. J Pediatr Genet 2016
14
21

Characteristics and outcomes of children with the Wilms tumor-Aniridia syndrome: a report from the National Wilms Tumor Study Group.
Norman E Breslow, Robin Norris, Patricia A Norkool, Tammy Kang, J Bruce Beckwith, Elizabeth J Perlman, Michael L Ritchey, Daniel M Green, Kim E Nichols. J Clin Oncol 2003
68
15


Postnatal manipulation of Pax6 dosage reverses congenital tissue malformation defects.
Cheryl Y Gregory-Evans, Xia Wang, Kishor M Wasan, Jinying Zhao, Andrew L Metcalfe, Kevin Gregory-Evans. J Clin Invest 2014
62
15

Glaucoma and frequency of ocular and general diseases in 30 patients with aniridia: a clinical study.
Eugen Gramer, Constantin Reiter, Gwendolyn Gramer. Eur J Ophthalmol 2012
30
15

PAX6 in sensory development.
Veronica van Heyningen, Kathleen A Williamson. Hum Mol Genet 2002
166
15


Mouse small eye results from mutations in a paired-like homeobox-containing gene.
R E Hill, J Favor, B L Hogan, C C Ton, G F Saunders, I M Hanson, J Prosser, T Jordan, N D Hastie, V van Heyningen. Nature 1991
15

PAX6 Mutational Status Determines Aniridia-Associated Keratopathy Phenotype.
Neil Lagali, Bogumil Wowra, Fabian Norbert Fries, Lorenz Latta, Kayed Moslemani, Tor Paaske Utheim, Edward Wylegala, Berthold Seitz, Barbara Käsmann-Kellner. Ophthalmology 2020
15
20

A mouse model of aniridia reveals the in vivo downstream targets of Pax6 driving iris and ciliary body development in the eye.
Xia Wang, Xianghong Shan, Cheryl Y Gregory-Evans. Biochim Biophys Acta Mol Basis Dis 2017
14
21


Long-range downstream enhancers are essential for Pax6 expression.
Dirk A Kleinjan, Anne Seawright, Sebastien Mella, Catherine B Carr, David A Tyas, T Ian Simpson, John O Mason, David J Price, Veronica van Heyningen. Dev Biol 2006
107
15

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
15
20

PAX6 missense mutation in isolated foveal hypoplasia.
N Azuma, S Nishina, H Yanagisawa, T Okuyama, M Yamada. Nat Genet 1996
153
15

Clinical utility gene card for: Aniridia.
Rose Richardson, Melanie Hingorani, Veronica Van Heyningen, Cheryl Gregory-Evans, Mariya Moosajee. Eur J Hum Genet 2016
9
33

PAX6 aniridia syndrome: clinics, genetics, and therapeutics.
Hyun Taek Lim, Dae Hee Kim, Hyuna Kim. Curr Opin Ophthalmol 2017
26
15

Functional reassessment of PAX6 single nucleotide variants by in vitro splicing assay.
Alexandra Yu Filatova, Tatiana A Vasilyeva, Andrey V Marakhonov, Anna A Voskresenskaya, Rena A Zinchenko, Mikhail Yu Skoblov. Eur J Hum Genet 2019
16
18

The Pax6 isoform bearing an alternative spliced exon promotes the development of the neural retinal structure.
Noriyuki Azuma, Keiko Tadokoro, Astuko Asaka, Masao Yamada, Yuki Yamaguchi, Hiroshi Handa, Satsuki Matsushima, Takashi Watanabe, Shinichi Kohsaka, Yasuyuki Kida,[...]. Hum Mol Genet 2005
46
15


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.