A citation-based method for searching scientific literature

Eric A Muller, Swaroop Aradhya, Joan F Atkin, Erin P Carmany, Alison M Elliott, Albert E Chudley, Robin D Clark, David B Everman, Shannon Garner, Bryan D Hall, Gail E Herman, Emma Kivuva, Subhadra Ramanathan, David A Stevenson, David W Stockton, Louanne Hudgins. Am J Med Genet A 2012
Times Cited: 28







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



Times Cited
  Times     Co-cited
Similarity


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
28

Human homolog of patched, a candidate gene for the basal cell nevus syndrome.
R L Johnson, A L Rothman, J Xie, L V Goodrich, J W Bare, J M Bonifas, A G Quinn, R M Myers, D R Cox, E H Epstein,[...]. Science 1996
28

Interstitial 9q22.3 microdeletion: clinical and molecular characterisation of a newly recognised overgrowth syndrome.
Richard Redon, Geneviève Baujat, Damien Sanlaville, Martine Le Merrer, Michel Vekemans, Arnold Munnich, Nigel P Carter, Valérie Cormier-Daire, Laurence Colleaux. Eur J Hum Genet 2006
58
25

Nevoid basal cell carcinoma (Gorlin) syndrome.
Robert J Gorlin. Genet Med 2004
208
25

Further delineation of 9q22 deletion syndrome associated with basal cell nevus (Gorlin) syndrome: report of two cases and review of the literature.
Kayono Yamamoto, Hiroshi Yoshihashi, Noritaka Furuya, Masanori Adachi, Susumu Ito, Yukichi Tanaka, Mitsuo Masuno, Hideaki Chiyo, Kenji Kurosawa. Congenit Anom (Kyoto) 2009
21
33

Clinical features of microdeletion 9q22.3 (pat).
K Shimojima, M Adachi, M Tanaka, Y Tanaka, K Kurosawa, T Yamamoto. Clin Genet 2009
19
31

Wilms' tumor in patients with 9q22.3 microdeletion syndrome suggests a role for PTCH1 in nephroblastomas.
Bertrand Isidor, Franck Bourdeaut, Delfine Lafon, Ghislaine Plessis, Elodie Lacaze, Caroline Kannengiesser, Sylvie Rossignol, Olivier Pichon, Annaig Briand, Dominique Martin-Coignard,[...]. Eur J Hum Genet 2013
18
33

Birth incidence and prevalence of tumor-prone syndromes: estimates from a UK family genetic register service.
D G Evans, E Howard, C Giblin, T Clancy, H Spencer, S M Huson, F Lalloo. Am J Med Genet A 2010
453
21

Clinical manifestations in 105 persons with nevoid basal cell carcinoma syndrome.
V E Kimonis, A M Goldstein, B Pastakia, M L Yang, R Kase, J J DiGiovanna, A E Bale, S J Bale. Am J Med Genet 1997
550
21

Rhabdomyosarcoma, Wilms tumor, and deletion of the patched gene in Gorlin syndrome.
Mariana M Cajaiba, Allen E Bale, Mayra Alvarez-Franco, Joseph McNamara, Miguel Reyes-Múgica. Nat Clin Pract Oncol 2006
30
17

Complications of the naevoid basal cell carcinoma syndrome: results of a population based study.
D G Evans, E J Ladusans, S Rimmer, L D Burnell, N Thakker, P A Farndon. J Med Genet 1993
365
17


Multiple tumor types including leiomyoma and Wilms tumor in a patient with Gorlin syndrome due to 9q22.3 microdeletion encompassing the PTCH1 and FANC-C loci.
Livia Garavelli, Maria Rosaria Piemontese, Alberto Cavazza, Simonetta Rosato, Anita Wischmeijer, Chiara Gelmini, Enrico Albertini, Giuseppe Albertini, Francesca Forzano, Fabrizia Franchi,[...]. Am J Med Genet A 2013
14
35

Germline mutations in SUFU cause Gorlin syndrome-associated childhood medulloblastoma and redefine the risk associated with PTCH1 mutations.
Miriam J Smith, Christian Beetz, Simon G Williams, Sanjeev S Bhaskar, James O'Sullivan, Beverley Anderson, Sarah B Daly, Jill E Urquhart, Zaynab Bholah, Deemesh Oudit,[...]. J Clin Oncol 2014
151
17

Frameshift mutation in the PTCH2 gene can cause nevoid basal cell carcinoma syndrome.
Katsunori Fujii, Hirofumi Ohashi, Maiko Suzuki, Hiromi Hatsuse, Tadashi Shiohama, Hideki Uchikawa, Toshiyuki Miyashita. Fam Cancer 2013
43
17

Diagnosis of 9q22.3 microdeletion syndrome in utero following identification of craniosynostosis, overgrowth, and skeletal anomalies.
Sara Chadwick Reichert, Kristin Zelley, Kim E Nichols, Moriah Eberhard, Elaine H Zackai, Juan Martinez-Poyer. Am J Med Genet A 2015
6
83

Delineation of an interstitial 9q22 deletion in basal cell nevus syndrome.
S E Boonen, D Stahl, S Kreiborg, T Rosenberg, V Kalscheuer, L A Larsen, N Tommerup, K Brøndum-Nielsen, Z Tümer. Am J Med Genet A 2005
26
15

Molecular analysis of chromosome 9q deletions in two Gorlin syndrome patients.
R Shimkets, M R Gailani, V M Siu, T Yang-Feng, C L Pressman, S Levanat, A Goldstein, M Dean, A E Bale. Am J Hum Genet 1996
57
14

Nevoid basal cell carcinoma syndrome (Gorlin syndrome).
Lorenzo Lo Muzio. Orphanet J Rare Dis 2008
260
14

Inhibiting the hedgehog pathway in patients with the basal-cell nevus syndrome.
Jean Y Tang, Julian M Mackay-Wiggan, Michelle Aszterbaum, Robert L Yauch, Joselyn Lindgren, Kris Chang, Carol Coppola, Anita M Chanana, Jackleen Marji, David R Bickers,[...]. N Engl J Med 2012
388
14


Identification of a SUFU germline mutation in a family with Gorlin syndrome.
L Pastorino, P Ghiorzo, S Nasti, L Battistuzzi, R Cusano, C Marzocchi, M L Garrè, M Clementi, G Bianchi Scarrà. Am J Med Genet A 2009
114
14

Basal cell carcinomas: attack of the hedgehog.
Ervin H Epstein. Nat Rev Cancer 2008
532
14

First evidence of genotype-phenotype correlations in Gorlin syndrome.
D Gareth Evans, Deemesh Oudit, Miriam J Smith, David Rutkowski, Ernest Allan, William G Newman, John T Lear. J Med Genet 2017
33
14

The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data.
Aaron McKenna, Matthew Hanna, Eric Banks, Andrey Sivachenko, Kristian Cibulskis, Andrew Kernytsky, Kiran Garimella, David Altshuler, Stacey Gabriel, Mark Daly,[...]. Genome Res 2010
10

Perinatal findings and molecular cytogenetic analyses of de novo interstitial deletion of 9q (9q22.3-->q31.3) associated with Gorlin syndrome.
Chih-Ping Chen, Shuan-Pei Lin, Tzu-Hao Wang, Yann-Jang Chen, Ming Chen, Wayseen Wang. Prenat Diagn 2006
22
13

High-density oligonucleotide array with sub-kilobase resolution reveals breakpoint information of submicroscopic deletions in nevoid basal cell carcinoma syndrome.
Katsunori Fujii, Shumpei Ishikawa, Hideki Uchikawa, Daisuke Komura, Michael H Shapero, Fan Shen, Jing Hung, Hiroshi Arai, Yoko Tanaka, Kimio Sasaki,[...]. Hum Genet 2007
23
13

Rhabdomyosarcomas and radiation hypersensitivity in a mouse model of Gorlin syndrome.
H Hahn, L Wojnowski, A M Zimmer, J Hall, G Miller, A Zimmer. Nat Med 1998
346
10

Nevoid basal-cell carcinoma syndrome.
R J Gorlin. Medicine (Baltimore) 1987
582
10

Nevoid basal cell carcinoma syndrome.
R J Gorlin. Dermatol Clin 1995
273
10

Location of gene for Gorlin syndrome.
P A Farndon, R G Del Mastro, D G Evans, M W Kilpatrick. Lancet 1992
309
10

Entire PTCH1 deletion is a common event in point mutation-negative cases with nevoid basal cell carcinoma syndrome in Japan.
K Nagao, K Fujii, K Saito, K Sugita, M Endo, T Motojima, H Hatsuse, T Miyashita. Clin Genet 2011
15
20

A missense mutation in PTCH2 underlies dominantly inherited NBCCS in a Chinese family.
Z Fan, J Li, J Du, H Zhang, Y Shen, C-Y Wang, S Wang. J Med Genet 2008
73
10

New mutations and an updated database for the patched-1 (PTCH1) gene.
Marie G Reinders, Antonius F van Hout, Betûl Cosgun, Aimée D Paulussen, Edward M Leter, Peter M Steijlen, Klara Mosterd, Michel van Geel, Johan J Gille. Mol Genet Genomic Med 2018
15
20

A framework for variation discovery and genotyping using next-generation DNA sequencing data.
Mark A DePristo, Eric Banks, Ryan Poplin, Kiran V Garimella, Jared R Maguire, Christopher Hartl, Anthony A Philippakis, Guillermo del Angel, Manuel A Rivas, Matt Hanna,[...]. Nat Genet 2011
7

Isolation and characterization of a zinc finger polypeptide gene at the human chromosome 11 Wilms' tumor locus.
K M Call, T Glaser, C Y Ito, A J Buckler, J Pelletier, D A Haber, E A Rose, A Kral, H Yeger, W H Lewis. Cell 1990
7

Germline mutations in DIS3L2 cause the Perlman syndrome of overgrowth and Wilms tumor susceptibility.
Dewi Astuti, Mark R Morris, Wendy N Cooper, Raymond H J Staals, Naomi C Wake, Graham A Fews, Harmeet Gill, Dean Gentle, Salwati Shuib, Christopher J Ricketts,[...]. Nat Genet 2012
155
7

Interstitial deletion of chromosome 9, int del(9)(9q22.31-q31.2), including the genes causing multiple basal cell nevus syndrome and Robinow/brachydactyly 1 syndrome.
Carla Olivieri, Paola Maraschio, Desiree Caselli, Carla Martini, Giampiero Beluffi, Emanuela Maserati, Cesare Danesino. Eur J Pediatr 2003
23
8

Female pseudohermaphroditism in a fetus with a deletion 9(q22.2q31.1).
A Coulomb L'Herminé, A Aboura, B Simon-Bouy, F Robin, F Audibert, N Strouk, F Capron, R Frydman, G Tachdjian. Prenat Diagn 2002
7
28

A girl with deletion 9q22.1-q22.32 including the PTCH and ROR2 genes identified by genome-wide array-CGH.
Beata Nowakowska, Anna Kutkowska-Kaźmierczak, Paweł Stankiewicz, Ewa Bocian, Ewa Obersztyn, Zhishuo Ou, Sau Wai Cheung, Wei-Wen Cai. Am J Med Genet A 2007
18
11


Basal cell carcinomas in gorlin syndrome: a review of 202 patients.
Elizabeth A Jones, Mohammed Imran Sajid, Andrew Shenton, D Gareth Evans. J Skin Cancer 2011
66
7

AP1S2 is mutated in X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (Pettigrew syndrome).
Pierre Cacciagli, Jean-Pierre Desvignes, Nadine Girard, Marc Delepine, Diana Zelenika, Mark Lathrop, Nicolas Lévy, David H Ledbetter, William B Dobyns, Laurent Villard. Eur J Hum Genet 2014
27
7

Mutations in the AP1S2 gene encoding the sigma 2 subunit of the adaptor protein 1 complex are associated with syndromic X-linked mental retardation with hydrocephalus and calcifications in basal ganglia.
Y Saillour, G Zanni, V Des Portes, D Heron, L Guibaud, M T Iba-Zizen, J L Pedespan, K Poirier, L Castelnau, C Julien,[...]. J Med Genet 2007
48
7

Familial aggregation of congenital hydrocephalus in a nationwide cohort.
Tina Noergaard Munch, Klaus Rostgaard, Marie-Louise Hee Rasmussen, Jan Wohlfahrt, Marianne Juhler, Mads Melbye. Brain 2012
42
7

Mutation in MPDZ causes severe congenital hydrocephalus.
Mohammed S Al-Dosari, Mohammed Al-Owain, Maha Tulbah, Wesam Kurdi, Nouran Adly, Amal Al-Hemidan, Tariq A Masoodi, Buthainah Albash, Fowzan S Alkuraya. J Med Genet 2013
41
7

Disturbed Wnt Signalling due to a Mutation in CCDC88C Causes an Autosomal Recessive Non-Syndromic Hydrocephalus with Medial Diverticulum.
A B Ekici, D Hilfinger, M Jatzwauk, C T Thiel, D Wenzel, I Lorenz, E Boltshauser, T W Goecke, G Staatz, D J Morris-Rosendahl,[...]. Mol Syndromol 2010
49
7


Two novel CCDC88C mutations confirm the role of DAPLE in autosomal recessive congenital hydrocephalus.
Anais Drielsma, Chaim Jalas, Nicolas Simonis, Julie Désir, Natalia Simanovsky, Isabelle Pirson, Orly Elpeleg, Marc Abramowicz, Simon Edvardson. J Med Genet 2012
37
7

Megalencephaly-capillary malformation (MCAP) and megalencephaly-polydactyly-polymicrogyria-hydrocephalus (MPPH) syndromes: two closely related disorders of brain overgrowth and abnormal brain and body morphogenesis.
Ghayda M Mirzaa, Robert L Conway, Karen W Gripp, Tally Lerman-Sagie, Dawn H Siegel, Linda S deVries, Dorit Lev, Nancy Kramer, Elizabeth Hopkins, John M Graham,[...]. Am J Med Genet A 2012
113
7


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.